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    DMD dystrophin [ Homo sapiens (human) ]

    Gene ID: 1756, updated on 15-Jun-2013
    Official Symbol
    DMDprovided by HGNC
    Official Full Name
    dystrophinprovided by HGNC
    Primary source
    HGNC:2928
    Locus tag
    GS1-19O24.1
    See related
    Ensembl:ENSG00000198947; HPRD:02303; MIM:300377; Vega:OTTHUMG00000021336
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272
    Summary
    The dystrophin gene is the largest gene found in nature, measuring 2.4 Mb. The gene was identified through a positional cloning approach, targeted at the isolation of the gene responsible for Duchenne (DMD) and Becker (BMD) Muscular Dystrophies. DMD is a recessive, fatal, X-linked disorder occurring at a frequency of about 1 in 3,500 new-born males. BMD is a milder allelic form. In general, DMD patients carry mutations which cause premature translation termination (nonsense or frame shift mutations), while in BMD patients dystrophin is reduced either in molecular weight (derived from in-frame deletions) or in expression level. The dystrophin gene is highly complex, containing at least eight independent, tissue-specific promoters and two polyA-addition sites. Furthermore, dystrophin RNA is differentially spliced, producing a range of different transcripts, encoding a large set of protein isoforms. Dystrophin (as encoded by the Dp427 transcripts) is a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. Dystrophin is part of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. [provided by RefSeq, Jul 2008]
    Annotation information
    Annotation category: partial on reference assembly
    Location :
    Xp21.2
    Sequence :
    Chromosome: X; NC_000023.10 (31137345..33357726, complement)
    See DMD in Epigenomics, MapViewer

    Chromosome X - NC_000023.10Genomic Context describing neighboring genes Neighboring gene TGF-beta activated kinase 1/MAP3K7 binding protein 3 Neighboring gene ferritin, heavy polypeptide-like 17 Neighboring gene nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 8 Neighboring gene microRNA 3915 Neighboring gene microRNA 548f-5 Neighboring gene tubulin folding cofactor A pseudogene 1 Neighboring gene lysosomal-associated membrane protein 1 pseudogene Neighboring gene family with sequence similarity 47, member A

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Nested introns in an intron: evidence of multi-step splicing in a large intron of the human dystrophin pre-mRNA. Suzuki H, et al. FEBS Lett, 2013 Mar 18. PMID 23395799.
    2. The N-terminal actin-binding tandem calponin-homology (CH) domain of dystrophin is in a closed conformation in solution and when bound to F-actin. Singh SM, et al. Biophys J, 2012 Nov 7. PMID 23199925.
    3. The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms. Bovolenta M, et al. PLoS One, 2012. PMID 23028937.
    4. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. Povlsen LK, et al. Nat Cell Biol, 2012 Oct. PMID 23000965.
    5. A census of human soluble protein complexes. Havugimana PC, et al. Cell, 2012 Aug 31. PMID 22939629.

    See all (332) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. In solution, dystrophin N-terminal actin-binding domain binds to F-actin in a closed conformation.
      Title: The N-terminal actin-binding tandem calponin-homology (CH) domain of dystrophin is in a closed conformation in solution and when bound to F-actin.
    2. The evidence obtained for multi-step splicing in a large intron of the human dystrophin pre-mRNA.
      Title: Nested introns in an intron: evidence of multi-step splicing in a large intron of the human dystrophin pre-mRNA.
    3. A DMD nonsense mutation in somatic mosaicism causes isolated cardiomyopathy with genetic normalization in skeletal muscle.
      Title: Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle.
    4. Findings reveal that DMD lncRNAs may contribute to the orchestration and homeostasis of the muscle dystrophin expression pattern by either selective targeting and down-modulating the dystrophin promoter transcriptional activity.
      Title: The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms.
    5. Review of the role of DMD mutations in Duchenne muscular dystrophy and use in genetic diagnosis.
      Title: [Recommendations of good practices for the genetic diagnosis of Duchenne and Becker muscular dystrophies].
    6. A novel missense mutation in EDN3 and a deletion mutation in DMD has been found in the same Indian family members affected with Waardenburg syndrome and Duchenne muscular dystrophy.
      Title: Genetic analysis of an Indian family with members affected with Waardenburg syndrome and Duchenne muscular dystrophy.
    7. No relationship between X-inactivation pattern and transcriptional behaviour of DMD gene was observed in Duchenne muscular dystrophies.
      Title: Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype.
    8. identified 2 brothers with mild proximal weakness, recurrent abdominal pain, and moderately elevated serum creatine kinase; a novel mutation was found in exon 11 of the dystrophin gene (c.1280T>C); results suggest this missense mutation hinders dynamic properties of the dystrophin N-terminal region
      Title: Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy.
    9. identified differences in the stability, dystrophin structure and lipid binding properties of these end-product proteins produced by exon 51 skipping repair
      Title: Exon edited dystrophin rods in the hinge 3 region.
    10. This REVIEW discusses the experimental evidence supporting participation of dystrophin Dp71 in different cellular processes, including cell adhesion, water homeostasis, cell division, and nuclear architecture.
      Title: Dystrophin Dp71: the smallest but multifunctional product of the Duchenne muscular dystrophy gene.
    Submit: New GeneRIF Correction See all (170)

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Becker muscular dystrophy

    Summary from GeneReviews: Dystrophinopathies Go to GeneReviews

    Disease Characteristics
    The dystrophinopathies include a spectrum of muscle disease caused by mutations in DMD, which encodes the protein dystrophin. The mild end of the spectrum includes the phenotypes of asymptomatic increase in serum concentration of creatine phosphokinase (CK) and muscle cramps with myoglobinuria and isolated quadriceps myopathy. The severe end of the spectrum includes progressive muscle diseases that are classified as Duchenne/Becker muscular dystrophy when skeletal muscle is primarily affected and as DMD-associated dilated cardiomyopathy (DCM) when the heart is primarily affected. Duchenne muscular dystrophy (DMD) usually presents in early childhood with delayed milestones, including delays in sitting and standing independently. Proximal weakness causes a waddling gait and difficulty climbing. DMD is rapidly progressive, with affected children being wheelchair dependent by age 12 years. Cardiomyopathy occurs in individuals with DMD after age 18 years. Few survive beyond the third decade, with respiratory complications and cardiomyopathy being common causes of death. Becker muscular dystrophy (BMD) is characterized by later-onset skeletal muscle weakness; individuals remain ambulatory into their 20s. Despite the milder skeletal muscle involvement, heart failure from DCM is a common cause of morbidity and the most common cause of death in BMD. Mean age of death is in the mid-40s. DMD-associated DCM is characterized by left ventricular dilation and congestive heart failure. Females heterozygous for a DMD mutation are at increased risk for DCM.
    Diagnosis Testing
    DMD is the only gene in which mutations cause the dystrophinopathies. Molecular genetic testing of DMD can establish the diagnosis of a dystrophinopathy without muscle biopsy in most individuals with DMD and BMD. Virtually all males with DMD/BMD have identifiable DMD mutations. The number of individuals with DMD-associated DCM and identifiable DMD mutations is unknown. In the remaining cases, a combination of clinical findings, family history, serum CK concentration, and muscle biopsy with dystrophin studies confirms the diagnosis.
    Genetic Counseling
    The dystrophinopathies are inherited in an X-linked manner. The risk to the sibs of a proband depends on the carrier status of the mother. Carrier females have a 50% chance of transmitting the DMD mutation in each pregnancy. Sons who inherit the mutation will be affected; daughters who inherit the mutation are carriers and may or may not develop cardiomyopathy. Males with DMD do not reproduce. Males with BMD or DMD-associated DCM may reproduce: all of their daughters are carriers; none of their sons inherit their father's DMD mutation. Carrier testing for at-risk females and prenatal testing for pregnancies at increased risk are possible if the DMD disease-causing mutation in the family is known or if informative linked markers have been identified.
    References

    Cardiomyopathy, dilated, 3b

    Summary from GeneReviews: Dystrophinopathies Go to GeneReviews

    Disease Characteristics
    The dystrophinopathies include a spectrum of muscle disease caused by mutations in DMD, which encodes the protein dystrophin. The mild end of the spectrum includes the phenotypes of asymptomatic increase in serum concentration of creatine phosphokinase (CK) and muscle cramps with myoglobinuria and isolated quadriceps myopathy. The severe end of the spectrum includes progressive muscle diseases that are classified as Duchenne/Becker muscular dystrophy when skeletal muscle is primarily affected and as DMD-associated dilated cardiomyopathy (DCM) when the heart is primarily affected. Duchenne muscular dystrophy (DMD) usually presents in early childhood with delayed milestones, including delays in sitting and standing independently. Proximal weakness causes a waddling gait and difficulty climbing. DMD is rapidly progressive, with affected children being wheelchair dependent by age 12 years. Cardiomyopathy occurs in individuals with DMD after age 18 years. Few survive beyond the third decade, with respiratory complications and cardiomyopathy being common causes of death. Becker muscular dystrophy (BMD) is characterized by later-onset skeletal muscle weakness; individuals remain ambulatory into their 20s. Despite the milder skeletal muscle involvement, heart failure from DCM is a common cause of morbidity and the most common cause of death in BMD. Mean age of death is in the mid-40s. DMD-associated DCM is characterized by left ventricular dilation and congestive heart failure. Females heterozygous for a DMD mutation are at increased risk for DCM.
    Diagnosis Testing
    DMD is the only gene in which mutations cause the dystrophinopathies. Molecular genetic testing of DMD can establish the diagnosis of a dystrophinopathy without muscle biopsy in most individuals with DMD and BMD. Virtually all males with DMD/BMD have identifiable DMD mutations. The number of individuals with DMD-associated DCM and identifiable DMD mutations is unknown. In the remaining cases, a combination of clinical findings, family history, serum CK concentration, and muscle biopsy with dystrophin studies confirms the diagnosis.
    Genetic Counseling
    The dystrophinopathies are inherited in an X-linked manner. The risk to the sibs of a proband depends on the carrier status of the mother. Carrier females have a 50% chance of transmitting the DMD mutation in each pregnancy. Sons who inherit the mutation will be affected; daughters who inherit the mutation are carriers and may or may not develop cardiomyopathy. Males with DMD do not reproduce. Males with BMD or DMD-associated DCM may reproduce: all of their daughters are carriers; none of their sons inherit their father's DMD mutation. Carrier testing for at-risk females and prenatal testing for pregnancies at increased risk are possible if the DMD disease-causing mutation in the family is known or if informative linked markers have been identified.
    References

    Duchenne muscular dystrophy

    Summary from GeneReviews: Dystrophinopathies Go to GeneReviews

    Disease Characteristics
    The dystrophinopathies include a spectrum of muscle disease caused by mutations in DMD, which encodes the protein dystrophin. The mild end of the spectrum includes the phenotypes of asymptomatic increase in serum concentration of creatine phosphokinase (CK) and muscle cramps with myoglobinuria and isolated quadriceps myopathy. The severe end of the spectrum includes progressive muscle diseases that are classified as Duchenne/Becker muscular dystrophy when skeletal muscle is primarily affected and as DMD-associated dilated cardiomyopathy (DCM) when the heart is primarily affected. Duchenne muscular dystrophy (DMD) usually presents in early childhood with delayed milestones, including delays in sitting and standing independently. Proximal weakness causes a waddling gait and difficulty climbing. DMD is rapidly progressive, with affected children being wheelchair dependent by age 12 years. Cardiomyopathy occurs in individuals with DMD after age 18 years. Few survive beyond the third decade, with respiratory complications and cardiomyopathy being common causes of death. Becker muscular dystrophy (BMD) is characterized by later-onset skeletal muscle weakness; individuals remain ambulatory into their 20s. Despite the milder skeletal muscle involvement, heart failure from DCM is a common cause of morbidity and the most common cause of death in BMD. Mean age of death is in the mid-40s. DMD-associated DCM is characterized by left ventricular dilation and congestive heart failure. Females heterozygous for a DMD mutation are at increased risk for DCM.
    Diagnosis Testing
    DMD is the only gene in which mutations cause the dystrophinopathies. Molecular genetic testing of DMD can establish the diagnosis of a dystrophinopathy without muscle biopsy in most individuals with DMD and BMD. Virtually all males with DMD/BMD have identifiable DMD mutations. The number of individuals with DMD-associated DCM and identifiable DMD mutations is unknown. In the remaining cases, a combination of clinical findings, family history, serum CK concentration, and muscle biopsy with dystrophin studies confirms the diagnosis.
    Genetic Counseling
    The dystrophinopathies are inherited in an X-linked manner. The risk to the sibs of a proband depends on the carrier status of the mother. Carrier females have a 50% chance of transmitting the DMD mutation in each pregnancy. Sons who inherit the mutation will be affected; daughters who inherit the mutation are carriers and may or may not develop cardiomyopathy. Males with DMD do not reproduce. Males with BMD or DMD-associated DCM may reproduce: all of their daughters are carriers; none of their sons inherit their father's DMD mutation. Carrier testing for at-risk females and prenatal testing for pregnancies at increased risk are possible if the DMD disease-causing mutation in the family is known or if informative linked markers have been identified.
    References
    Products Interactant Other Gene Complex Source Pubs Description
    P11532 P68133 ACTA1    HPRD  PubMed  
    P11532 P68032 ACTC1    HPRD  PubMed  
    P11532 Q9ULU8 CADPS    HPRD  PubMed  
    P11532 Q86UW7 CADPS2    HPRD  PubMed  
    P11532 Q14118 DAG1    HPRD  PubMed  
    P11532 Q13574 DGKZ    HPRD  PubMed  
    P11532 P11532 DMD    HPRD  PubMed  
    P11532 Q9Y4J8 DTNA    HPRD  PubMed  
    P11532 O60941 DTNB    HPRD  PubMed  
    P11532 P48023 FASLG    HPRD  PubMed  
    P11532 Q14500 KCNJ12    HPRD  PubMed  
    P11532 P08727 KRT19    HPRD  PubMed  
    P11532 P05787 KRT8    HPRD  PubMed  
    P11532 Q15124 PGM5    HPRD  PubMed  
    P11532 Q96LD1 SGCZ    HPRD  PubMed  
    P11532 Q13424 SNTA1    HPRD  PubMed  
    P11532 Q13884 SNTB1    HPRD  PubMed  
    P11532 Q13425 SNTB2    HPRD  PubMed  
    P11532 Q9NSN8 SNTG1    HPRD  PubMed  
    P11532 Q9NY99 SNTG2    HPRD  PubMed  
    P11532 P46939 UTRN    HPRD  PubMed  
    BioGRID:108096 BioGRID:106573 ACTA1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108096 BioGRID:122494 AHNAK    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108096 BioGRID:106715 ALB    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108096 BioGRID:106848 APP    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108096 BioGRID:106901 ARRB1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108096 BioGRID:107428 CDC25A    BioGRID  PubMed Two-hybrid 
    BioGRID:108096 BioGRID:107975 DAG1    BioGRID  PubMed Affinity Capture-Western; Co-crystal Structure 
    BioGRID:108096 BioGRID:118061 DISC1    BioGRID  PubMed Two-hybrid 
    BioGRID:108096 BioGRID:108170 DTNA    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:108096 BioGRID:108171 DTNB    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108096 BioGRID:246668 Itgb1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108096 BioGRID:109970 KCNJ12    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108096 BioGRID:109963 KCNJ4    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108096 BioGRID:110381 MAP3K5    BioGRID  PubMed Two-hybrid 
    BioGRID:108096 BioGRID:108326 MARK2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108096 BioGRID:110811 NEDD4    BioGRID  PubMed Co-fractionation 
    BioGRID:108096 BioGRID:110865 NFX1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108096 BioGRID:129767 PTRF    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108096 BioGRID:247643 Ptk2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108096 BioGRID:112523 SNTA1    BioGRID  PubMed Affinity Capture-Western; Protein-peptide; Reconstituted Complex 
    BioGRID:108096 BioGRID:112524 SNTB1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108096 BioGRID:112528 SNTB2    BioGRID  PubMed Affinity Capture-MS; Protein-peptide 
    BioGRID:108096 BioGRID:263295 Snta1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108096 BioGRID:112872 TERF1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108096 BioGRID:112873 TERF2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108096 BioGRID:117577 TRAF3IP1    BioGRID  PubMed Two-hybrid 
    BioGRID:108096 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    • Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystem (from WikiPathways)
      Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
      Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Dilated cardiomyopathy, conserved biosystem (from KEGG)
      Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Muscle contraction, organism-specific biosystem (from REACTOME)
      Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
    • Striated Muscle Contraction, organism-specific biosystem (from WikiPathways)
      Striated Muscle Contraction, organism-specific biosystemMuscle contraction is the process where muscle tissue is activated by a signal from the nervous system. In case of voluntary action the nervous signals are initiated from the brain by so called actio...
    • Striated Muscle Contraction, organism-specific biosystem (from REACTOME)
      Striated Muscle Contraction, organism-specific biosystemStriated muscle contraction is a process whereby force is generated within striated muscle tissue, resulting in a change in muscle geometry, or in short, increased force being exerted on the tendons....
    • Viral myocarditis, organism-specific biosystem (from KEGG)
      Viral myocarditis, organism-specific biosystemMyocarditis is a cardiac disease associated with inflammation and injury of the myocardium. It results from various etiologies, both noninfectious and infectious, but coxsackievirus B3 (CVB3) is stil...

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    actin binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    dystroglycan binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    myosin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    nitric-oxide synthase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    structural constituent of cytoskeleton TAS
    Traceable Author Statement
    more info
    		 PubMed 
    structural constituent of muscle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    structural constituent of muscle TAS
    Traceable Author Statement
    more info
    		 PubMed 
    vinculin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    cardiac muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    cellular protein complex assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    cellular protein localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    establishment of blood-nerve barrier IEA
    Inferred from Electronic Annotation
    more info
    		  
    establishment of glial blood-brain barrier IEA
    Inferred from Electronic Annotation
    more info
    		  
    flagellum assembly TAS
    Traceable Author Statement
    more info
    		  
    muscle cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    muscle fiber development IEA
    Inferred from Electronic Annotation
    more info
    		  
    muscle filament sliding TAS
    Traceable Author Statement
    more info
    		  
    muscle organ development NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    myotube cell development IEA
    Inferred from Electronic Annotation
    more info
    		  
    negative regulation of peptidyl-serine phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    neurotransmitter receptor metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleus localization IEA
    Inferred from Electronic Annotation
    more info
    		  
    olfactory nerve structural organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    peptide biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    positive regulation of neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    positive regulation of neuron projection development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    positive regulation of sodium ion transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    regulation of cardiac muscle cell action potential ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    regulation of cellular response to growth factor stimulus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    regulation of heart rate IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    regulation of peptidyl-cysteine S-nitrosylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    regulation of ryanodine-sensitive calcium-release channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    regulation of skeletal muscle contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    regulation of transcription, DNA-dependent IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of voltage-gated calcium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    Z disc IEA
    Inferred from Electronic Annotation
    more info
    		  
    colocalizes_with actin cytoskeleton TAS
    Traceable Author Statement
    more info
    		  
    cell surface IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cell-substrate junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    costamere IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    dystrophin-associated glycoprotein complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    dystrophin-associated glycoprotein complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    dystrophin-associated glycoprotein complex TAS
    Traceable Author Statement
    more info
    		  
    filopodium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    membrane raft IEA
    Inferred from Electronic Annotation
    more info
    		  
    membrane raft TAS
    Traceable Author Statement
    more info
    		  
    neuron projection terminus IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    nucleus TAS
    Traceable Author Statement
    more info
    		  
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    sarcolemma IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Preferred Names
    dystrophin
    Names
    dystrophin

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012232.1 RefSeqGene

      Range
      5001..2225382
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_199

    mRNA and Protein(s)

    1. NM_000109.3 → NP_000100.2  dystrophin Dp427c isoform

      Status: REVIEWED

      Description
      Transcript Variant: transcript Dp427c is expressed predominantly in neurons of the cortex and the CA regions of the hippocampus. It uses a unique promoter/exon 1 located about 130 kb upstream of the Dp427m transcript promoter. The transcript includes the common exon 2 of transcript Dp427m and has a similar length of 14 kb. The Dp427c isoform contains a unique N-terminal MED sequence, instead of the MLWWEEVEDCY sequence of isoform Dp427m. The remainder of isoform Dp427c is identical to isoform Dp427m.
      Source sequence(s)
      AL050305, AL109609, BC028720, BC036103, M18533
      UniProtKB/Swiss-Prot
      P11532
      UniProtKB/TrEMBL
      Q4G0X0
      Conserved Domains (8) summary
      cd00014
      Location:127 – 232
      Blast Score: 209
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:2464 – 2680
      Blast Score: 190
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd00201
      Location:3051 – 3080
      Blast Score: 116
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd02334
      Location:3303 – 3351
      Blast Score: 271
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      COG1340
      Location:1696 – 1971
      Blast Score: 110
      COG1340; Uncharacterized archaeal coiled-coil protein [Function unknown]
      pfam09068
      Location:3079 – 3199
      Blast Score: 454
      efhand_1; EF hand
      pfam09069
      Location:3203 – 3294
      Blast Score: 416
      efhand_2; EF-hand
      pfam00435
      Location:1671 – 1768
      Blast Score: 123
      Spectrin; Spectrin repeat

    2. NM_004006.2 → NP_003997.1  dystrophin Dp427m isoform

      Status: REVIEWED

      Description
      Transcript Variant: transcript Dp427m encodes the main dystrophin protein found in muscle. As a result of alternative promoter use, exon 1 encodes a unique N-terminal MLWWEEVEDCY aa sequence.
      Source sequence(s)
      AL031643, AL109609, BC028720, M18533
      Consensus CDS
      CCDS14233.1
      UniProtKB/Swiss-Prot
      P11532
      Related
      ENSP00000354923, OTTHUMP00000023117, ENST00000357033, OTTHUMT00000056182
      Conserved Domains (8) summary
      cd00014
      Location:135 – 240
      Blast Score: 209
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:2472 – 2688
      Blast Score: 190
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd00201
      Location:3059 – 3088
      Blast Score: 116
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd02334
      Location:3311 – 3359
      Blast Score: 271
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      COG1340
      Location:1704 – 1979
      Blast Score: 111
      COG1340; Uncharacterized archaeal coiled-coil protein [Function unknown]
      pfam09068
      Location:3087 – 3207
      Blast Score: 454
      efhand_1; EF hand
      pfam09069
      Location:3211 – 3302
      Blast Score: 416
      efhand_2; EF-hand
      pfam00435
      Location:1679 – 1776
      Blast Score: 123
      Spectrin; Spectrin repeat

    3. NM_004007.2 → NP_003998.1  dystrophin Dp427l isoform

      Status: REVIEWED

      Description
      Transcript Variant: transcript Dp427l originates at a unique promoter/exon 1 with splicing to exon 3 of the full length dystrophin (Dp427m) transcript. Consequently, amino acids 1-31 are replaced by a single methionine.
      Source sequence(s)
      AC004468, AC006061, AC078958, AC079143, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193, AC096506, AL031542, AL096699, AL109609, AL139278, AL451144, D32048, M18533
      UniProtKB/Swiss-Prot
      P11532
      Conserved Domains (8) summary
      cd00014
      Location:12 – 117
      Blast Score: 210
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:2349 – 2565
      Blast Score: 188
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd00201
      Location:2936 – 2965
      Blast Score: 116
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd02334
      Location:3188 – 3236
      Blast Score: 271
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      COG1340
      Location:1581 – 1856
      Blast Score: 109
      COG1340; Uncharacterized archaeal coiled-coil protein [Function unknown]
      pfam09068
      Location:2964 – 3084
      Blast Score: 454
      efhand_1; EF hand
      pfam09069
      Location:3088 – 3179
      Blast Score: 416
      efhand_2; EF-hand
      pfam00435
      Location:1556 – 1653
      Blast Score: 122
      Spectrin; Spectrin repeat

    4. NM_004009.3 → NP_004000.1  dystrophin Dp427p1 isoform

      Status: REVIEWED

      Description
      Transcript Variant: transcript Dp427p1 initiates from a unique promoter/exon 1 located in what corresponds to the first intron of transcript Dp427m. The transcript adds the common exon 2 of Dp427m and has a similar length (14 kb). The Dp427p1 isoform replaces the MLWWEEVEDCY-start of Dp427m with a unique N-terminal MSEVSSD aa sequence.
      Source sequence(s)
      AL049643, AL109609, BC028720, M18533, S64152
      Consensus CDS
      CCDS55395.1
      UniProtKB/Swiss-Prot
      P11532
      Related
      ENSP00000367948, OTTHUMP00000023121, ENST00000378677, OTTHUMT00000056187
      Conserved Domains (8) summary
      cd00014
      Location:131 – 236
      Blast Score: 209
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:2468 – 2684
      Blast Score: 190
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd00201
      Location:3055 – 3084
      Blast Score: 116
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd02334
      Location:3307 – 3355
      Blast Score: 272
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      COG1340
      Location:1700 – 1975
      Blast Score: 111
      COG1340; Uncharacterized archaeal coiled-coil protein [Function unknown]
      pfam09068
      Location:3083 – 3203
      Blast Score: 454
      efhand_1; EF hand
      pfam09069
      Location:3207 – 3298
      Blast Score: 416
      efhand_2; EF-hand
      pfam00435
      Location:1675 – 1772
      Blast Score: 123
      Spectrin; Spectrin repeat

    5. NM_004010.3 → NP_004001.1  dystrophin Dp427p2 isoform

      Status: REVIEWED

      Description
      Transcript Variant: transcript Dp427p2 has an additional 82 nt directly after exon 1 which introduces a translational stop codon 24 bp downstream of the same ATG codon included in the Dp427p1 transcript. This transcript has unknown coding capacity.
      Source sequence(s)
      AL049643, AL109609, BC028720, M18533, S64152
      UniProtKB/Swiss-Prot
      P11532
      Conserved Domains (8) summary
      cd00014
      Location:12 – 117
      Blast Score: 210
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:2349 – 2565
      Blast Score: 188
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd00201
      Location:2936 – 2965
      Blast Score: 116
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd02334
      Location:3188 – 3236
      Blast Score: 271
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      COG1340
      Location:1581 – 1856
      Blast Score: 109
      COG1340; Uncharacterized archaeal coiled-coil protein [Function unknown]
      pfam09068
      Location:2964 – 3084
      Blast Score: 454
      efhand_1; EF hand
      pfam09069
      Location:3088 – 3179
      Blast Score: 416
      efhand_2; EF-hand
      pfam00435
      Location:1556 – 1653
      Blast Score: 122
      Spectrin; Spectrin repeat

    6. NM_004011.3 → NP_004002.2  dystrophin Dp260-1 isoform

      Status: REVIEWED

      Description
      Transcript Variant: transcript Dp260-1 uses exons 30-79, and originates from a promoter/exon 1 sequence located in intron 29 of the dystrophin gene. As a result, Dp260-1 contains a 95 bp exon 1 encoding a unique N-terminal 16 aa MTEIILLIFFPAYFLN-sequence that replaces amino acids 1-1357 of the full-length dystrophin product (Dp427m isoform).
      Source sequence(s)
      AL109609, BC028720, M18533
      UniProtKB/Swiss-Prot
      P11532
      Conserved Domains (4) summary
      cd00176
      Location:1131 – 1347
      Blast Score: 188
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd00201
      Location:1718 – 1747
      Blast Score: 118
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd02334
      Location:1970 – 2018
      Blast Score: 272
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      COG1340
      Location:363 – 638
      Blast Score: 108
      COG1340; Uncharacterized archaeal coiled-coil protein [Function unknown]

    7. NM_004012.3 → NP_004003.1  dystrophin Dp260-2 isoform

      Status: REVIEWED

      Description
      Transcript Variant: transcript Dp260-2 uses exons 30-79, starting from a promoter/exon 1 sequence located in intron 29 of the dystrophin gene that is alternatively spliced and lacks N-terminal amino acids 1-1357 of the full length dystrophin (Dp427m isoform). The Dp260-2 transcript encodes a unique N-terminal MSARKLRNLSYKK sequence.
      Source sequence(s)
      AL109609, BC028720, M18533
      UniProtKB/Swiss-Prot
      P11532
      Conserved Domains (7) summary
      cd00176
      Location:1128 – 1344
      Blast Score: 186
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd00201
      Location:1715 – 1744
      Blast Score: 118
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd02334
      Location:1967 – 2015
      Blast Score: 272
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      COG1340
      Location:360 – 635
      Blast Score: 107
      COG1340; Uncharacterized archaeal coiled-coil protein [Function unknown]
      pfam09068
      Location:1743 – 1863
      Blast Score: 453
      efhand_1; EF hand
      pfam09069
      Location:1867 – 1958
      Blast Score: 417
      efhand_2; EF-hand
      pfam00435
      Location:335 – 432
      Blast Score: 122
      Spectrin; Spectrin repeat

    8. NM_004013.2 → NP_004004.1  dystrophin Dp140 isoform

      Status: REVIEWED

      Description
      Transcript Variant: Dp140 transcripts use exons 45-79, starting at a promoter/exon 1 located in intron 44. Dp140 transcripts have a long (1 kb) 5' UTR since translation is initiated in exon 51 (corresponding to aa 2461 of dystrophin). In addition to the alternative promoter and exon 1, differential splicing of exons 71-74 and 78 produces at least five Dp140 isoforms. Of these, this transcript (Dp140) contains all of the exons.
      Source sequence(s)
      BC028720, DA804849, M18533
      Consensus CDS
      CCDS48091.1
      UniProtKB/TrEMBL
      A1L0U9
      UniProtKB/Swiss-Prot
      P11532
      Related
      ENSP00000367979, ENST00000378707
      Conserved Domains (5) summary
      cd00176
      Location:12 – 228
      Blast Score: 207
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd00201
      Location:599 – 628
      Blast Score: 116
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd02334
      Location:851 – 899
      Blast Score: 267
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:627 – 747
      Blast Score: 451
      efhand_1; EF hand
      pfam09069
      Location:751 – 842
      Blast Score: 416
      efhand_2; EF-hand

    9. NM_004014.2 → NP_004005.1  dystrophin Dp116 isoform

      Status: REVIEWED

      Description
      Transcript Variant: transcript Dp116 uses exons 56-79, starting from a promoter/exon 1 within intron 55. As a result, the Dp116 isoform contains a unique N-terminal MLHRKTYHVK aa sequence, instead of aa 1-2739 of dystrophin. Differential splicing produces several Dp116-subtypes. The Dp116 isoform is also known as S-dystrophin or apo-dystrophin-2. This variant was curated in collaboration with Johann den Dunnen.
      Source sequence(s)
      AC079175, BC028720, M18533
      UniProtKB/Swiss-Prot
      P11532
      Conserved Domains (5) summary
      cd00176
      Location:206 – 316
      Blast Score: 152
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd00201
      Location:330 – 359
      Blast Score: 117
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd02334
      Location:582 – 630
      Blast Score: 258
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:358 – 478
      Blast Score: 453
      efhand_1; EF hand
      pfam09069
      Location:482 – 573
      Blast Score: 417
      efhand_2; EF-hand

    10. NM_004015.2 → NP_004006.1  dystrophin Dp71 isoform

      Status: REVIEWED

      Description
      Transcript Variant: Dp71 transcripts use exons 63-79 with a novel 80- to 100-nt exon containing an ATG start site for a new coding sequence of 17 nt. The short coding sequence is in-frame with the consecutive dystrophin sequence from exon 63. Differential splicing of exons 71 and 78 produces at least four Dp71 isoforms. Of these, this transcript (Dp71) includes both exons 71 and 78.
      Source sequence(s)
      BC028720, BC070078, BC094758
      Consensus CDS
      CCDS14234.1
      UniProtKB/Swiss-Prot
      P11532
      Conserved Domains (4) summary
      cd02334
      Location:243 – 291
      Blast Score: 246
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:19 – 139
      Blast Score: 454
      efhand_1; EF hand
      pfam09069
      Location:143 – 234
      Blast Score: 418
      efhand_2; EF-hand
      cl02600
      Location:488 – 530
      Blast Score: 83
      HTH_MerR-SF; Helix-Turn-Helix DNA binding domain of transcription regulators from the MerR superfamily

    11. NM_004016.2 → NP_004007.1  dystrophin Dp71b isoform

      Status: REVIEWED

      Description
      Transcript Variant: Dp71 transcripts use exons 63-79 with a novel 80- to 100-nt exon containing an ATG start site for a new coding sequence of 17 nt. The short coding sequence is in-frame with the consecutive dystrophin sequence from exon 63. Differential splicing of exons 71 and 78 produces at least four Dp71 isoforms. Of these, this transcript (Dp71b) lacks exon 78 and encodes a protein with a different C-terminus than Dp71 and Dp71a isoforms.
      Source sequence(s)
      BC028720, BC094758
      Consensus CDS
      CCDS14231.1
      UniProtKB/Swiss-Prot
      P11532
      Related
      ENSP00000367997, OTTHUMP00000023124, ENST00000378723, OTTHUMT00000056194
      Conserved Domains (4) summary
      cd02334
      Location:243 – 291
      Blast Score: 247
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:19 – 139
      Blast Score: 453
      efhand_1; EF hand
      pfam09069
      Location:143 – 234
      Blast Score: 417
      efhand_2; EF-hand
      cl02600
      Location:488 – 530
      Blast Score: 84
      HTH_MerR-SF; Helix-Turn-Helix DNA binding domain of transcription regulators from the MerR superfamily

    12. NM_004017.2 → NP_004008.1  dystrophin Dp71a isoform

      Status: REVIEWED

      Description
      Transcript Variant: Dp71 transcripts use exons 63-79 with a novel 80- to 100-nt exon containing an ATG start site for a new coding sequence of 17 nt. The short coding sequence is in-frame with the consecutive dystrophin sequence from exon 63. Differential splicing of exons 71 and 78 produces at least four Dp71 isoforms. Of these, this transcript (Dp71a) lacks exon 71.
      Source sequence(s)
      BC028720, BC070078, M92650
      UniProtKB/Swiss-Prot
      P11532
      Conserved Domains (4) summary
      cd02334
      Location:243 – 291
      Blast Score: 245
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:19 – 139
      Blast Score: 453
      efhand_1; EF hand
      pfam09069
      Location:143 – 234
      Blast Score: 418
      efhand_2; EF-hand
      cl02600
      Location:475 – 517
      Blast Score: 83
      HTH_MerR-SF; Helix-Turn-Helix DNA binding domain of transcription regulators from the MerR superfamily

    13. NM_004018.2 → NP_004009.1  dystrophin Dp71ab isoform

      Status: REVIEWED

      Description
      Transcript Variant: Dp71 transcripts use exons 63-79 with a novel 80- to 100-nt exon containing an ATG start site for a new coding sequence of 17 nt. The short coding sequence is in-frame with the consecutive dystrophin sequence from exon 63. Differential splicing of exons 71 and 78 produces at least four Dp71 isoforms. Of these, this transcript (Dp71ab) lacks both exons 71 and 78 and encodes a protein with a C-terminus like isoform Dp71b.
      Source sequence(s)
      BC028720, DB233002, M92650
      Consensus CDS
      CCDS14232.1
      UniProtKB/Swiss-Prot
      P11532
      Conserved Domains (4) summary
      cd02334
      Location:243 – 291
      Blast Score: 246
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:19 – 139
      Blast Score: 452
      efhand_1; EF hand
      pfam09069
      Location:143 – 234
      Blast Score: 417
      efhand_2; EF-hand
      cl02600
      Location:475 – 517
      Blast Score: 83
      HTH_MerR-SF; Helix-Turn-Helix DNA binding domain of transcription regulators from the MerR superfamily

    14. NM_004019.2 → NP_004010.1  dystrophin Dp40 isoform

      Status: REVIEWED

      Description
      Transcript Variant: transcript Dp40 uses exons 63-70. The 5' UTR and encoded first 7 aa are identical to that in transcript Dp71, but the stop codon lies at the splice junction of the exon/intron 70. The 3' UTR includes nt from intron 70 which includes an alternative polyadenylation site. The Dp40 isoform lacks the normal C-terminal end of full-length dystrophin (aa 3409-3685).
      Source sequence(s)
      AC078958, M18533, S42206
      UniProtKB/Swiss-Prot
      P11532
      UniProtKB/TrEMBL
      Q16484
      Conserved Domains (3) summary
      cd02334
      Location:243 – 291
      Blast Score: 231
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:19 – 139
      Blast Score: 448
      efhand_1; EF hand
      pfam09069
      Location:143 – 234
      Blast Score: 421
      efhand_2; EF-hand

    15. NM_004020.3 → NP_004011.2  dystrophin Dp140c isoform

      Status: REVIEWED

      Description
      Transcript Variant: Dp140 transcripts use exons 45-79, starting at a promoter/exon 1 located in intron 44. Dp140 transcripts have a long (1 kb) 5' UTR since translation is initiated in exon 51 (corresponding to aa 2461 of dystrophin). In addition to the alternative promoter and exon 1, differential splicing of exons 71-74 and 78 produces at least five Dp140 isoforms. Of these, this transcript (Dp140c) lacks exons 71-74.
      Source sequence(s)
      AC078958, BC028720, DA804849, M18533
      Consensus CDS
      CCDS55394.1
      UniProtKB/Swiss-Prot
      P11532
      Related
      ENSP00000444119, ENST00000541735
      Conserved Domains (5) summary
      cd00176
      Location:12 – 228
      Blast Score: 204
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd00201
      Location:599 – 628
      Blast Score: 116
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd02334
      Location:851 – 899
      Blast Score: 267
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:627 – 747
      Blast Score: 449
      efhand_1; EF hand
      pfam09069
      Location:751 – 842
      Blast Score: 416
      efhand_2; EF-hand

    16. NM_004021.2 → NP_004012.1  dystrophin Dp140b isoform

      Status: REVIEWED

      Description
      Transcript Variant: Dp140 transcripts use exons 45-79, starting at a promoter/exon 1 located in intron 44. Dp140 transcripts have a long (1 kb) 5' UTR since translation is initiated in exon 51 (corresponding to aa 2461 of dystrophin). In addition to the alternative promoter and exon 1, differential splicing of exons 71-74 and 78 produces at least five Dp140 isoforms. Of these, this transcript (Dp140b) lacks exon 78 and encodes a protein with a unique C-terminus.
      Source sequence(s)
      BC028720, DA804849, M18533
      UniProtKB/TrEMBL
      A7E212
      UniProtKB/Swiss-Prot
      P11532
      Conserved Domains (5) summary
      cd00176
      Location:12 – 228
      Blast Score: 206
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd00201
      Location:599 – 628
      Blast Score: 117
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd02334
      Location:851 – 899
      Blast Score: 267
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:627 – 747
      Blast Score: 451
      efhand_1; EF hand
      pfam09069
      Location:751 – 842
      Blast Score: 416
      efhand_2; EF-hand

    17. NM_004022.2 → NP_004013.1  dystrophin Dp140ab isoform

      Status: REVIEWED

      Description
      Transcript Variant: Dp140 transcripts use exons 45-79, starting at a promoter/exon 1 located in intron 44. Dp140 transcripts have a long (1 kb) 5' UTR since translation is initiated in exon 51 (corresponding to aa 2461 of dystrophin). In addition to the alternative promoter and exon 1, differential splicing of exons 71-74 and 78 produces at least five Dp140 isoforms. Of these, this transcript (Dp140ab) lacks exons 71 and 78 and encodes a protein with a unique C-terminus.
      Source sequence(s)
      BC028720, DA804849, M18533, M92650
      UniProtKB/Swiss-Prot
      P11532
      Related
      ENSP00000352894, ENST00000359836
      Conserved Domains (5) summary
      cd00176
      Location:12 – 228
      Blast Score: 204
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd00201
      Location:599 – 628
      Blast Score: 117
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd02334
      Location:851 – 899
      Blast Score: 267
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:627 – 747
      Blast Score: 450
      efhand_1; EF hand
      pfam09069
      Location:751 – 842
      Blast Score: 416
      efhand_2; EF-hand

    18. NM_004023.2 → NP_004014.1  dystrophin Dp140bc isoform

      Status: REVIEWED

      Description
      Transcript Variant: Dp140 transcripts use exons 45-79, starting at a promoter/exon 1 located in intron 44. Dp140 transcripts have a long (1 kb) 5' UTR since translation is initiated in exon 51 (corresponding to aa 2461 of dystrophin). In addition to the alternative promoter and exon 1, differential splicing of exons 71-74 and 78 produces at least five Dp140 isoforms. Of these, this transcript (Dp140bc) lacks exons 71-74 and 78 and encodes a protein with a unique C-terminus.
      Source sequence(s)
      BC028720, DA804849, M18533, M92650
      UniProtKB/Swiss-Prot
      P11532
      Related
      ENSP00000340057, ENST00000343523
      Conserved Domains (5) summary
      cd00176
      Location:12 – 228
      Blast Score: 203
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd00201
      Location:599 – 628
      Blast Score: 117
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd02334
      Location:851 – 899
      Blast Score: 268
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:627 – 747
      Blast Score: 449
      efhand_1; EF hand
      pfam09069
      Location:751 – 842
      Blast Score: 415
      efhand_2; EF-hand

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000023.10 Reference GRCh37.p10 Primary Assembly

      Range
      31137345..33357726, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000155.1 Alternate HuRef

      Range
      28877768..31095562, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018934.1 Alternate CHM1_1.0

      Range
      31052062..33271495, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic AB037493.1 BAA90413.1
    genomic ABBA01073015.1 (1769..5976) None
    genomic ABBA01073016.1 None
    genomic ABBA01073017.1 None
    genomic ABBA01073018.1 None
    genomic ABBA01073019.1 None
    genomic ABBA01073020.1 None
    genomic ABBA01073021.1 None
    genomic ABBA01073022.1 None
    genomic ABBA01073023.1 None
    genomic ABBA01073024.1 None
    genomic ABBA01073025.1 None
    genomic ABBA01073026.1 None
    genomic ABBA01073027.1 None
    genomic ABBA01073028.1 None
    genomic ABBA01073029.1 None
    genomic ABBA01073030.1 None
    genomic ABBA01073031.1 None
    genomic ABBA01073032.1 None
    genomic ABBA01073033.1 None
    genomic ABBA01073034.1 None
    genomic ABBA01073035.1 None
    genomic ABBA01073036.1 None
    genomic ABBA01073037.1 None
    genomic ABBA01073038.1 None
    genomic ABBA01073039.1 None
    genomic ABBA01073040.1 None
    genomic ABBA01073041.1 None
    genomic ABBA01073042.1 None
    genomic ABBA01073043.1 None
    genomic ABBA01073044.1 None
    genomic ABBA01073045.1 None
    genomic ABBA01073046.1 None
    genomic ABBA01073047.1 None
    genomic ABBA01073048.1 None
    genomic ABBA01073049.1 None
    genomic ABBA01073050.1 None
    genomic ABBA01073051.1 None
    genomic ABBA01073052.1 None
    genomic ABBA01073053.1 None
    genomic ABBA01073054.1 None
    genomic ABBA01073055.1 None
    genomic ABBA01073056.1 None
    genomic ABBA01073057.1 None
    genomic ABBA01073058.1 None
    genomic ABBA01073059.1 None
    genomic ABBA01073060.1 None
    genomic ABBA01073061.1 None
    genomic ABBA01073062.1 None
    genomic ABBA01073063.1 None
    genomic ABBA01073064.1 None
    genomic ABBA01073065.1 None
    genomic ABBA01073066.1 None
    genomic ABBA01073067.1 None
    genomic ABBA01073068.1 None
    genomic ABBA01073069.1 None
    genomic ABBA01073070.1 None
    genomic ABBA01073071.1 None
    genomic ABBA01073072.1 None
    genomic ABBA01073073.1 None
    genomic ABBA01073074.1 None
    genomic ABBA01073075.1 None
    genomic ABBA01073076.1 None
    genomic ABBA01073077.1 None
    genomic ABBA01073078.1 None
    genomic ABBA01073079.1 None
    genomic ABBA01073080.1 None
    genomic ABBA01073081.1 None
    genomic ABBA01073082.1 None
    genomic ABBA01073083.1 None
    genomic ABBA01073084.1 None
    genomic ABBA01073085.1 None
    genomic ABBA01073086.1 None
    genomic ABBA01073087.1 None
    genomic ABBA01073088.1 None
    genomic ABBA01073089.1 None
    genomic ABBA01073090.1 None
    genomic ABBA01073091.1 None
    genomic ABBA01073092.1 None
    genomic ABBA01073093.1 None
    genomic ABBA01073094.1 None
    genomic ABBA01073095.1 None
    genomic ABBA01073096.1 None
    genomic ABBA01073097.1 None
    genomic ABBA01073098.1 None
    genomic ABBA01073099.1 None
    genomic ABBA01073100.1 None
    genomic ABBA01073101.1 None
    genomic ABBA01073102.1 None
    genomic ABBA01073103.1 None
    genomic ABBA01073104.1 None
    genomic ABBA01073105.1 None
    genomic ABBA01073106.1 None
    genomic ABBA01073107.1 None
    genomic ABBA01073108.1 None
    genomic ABBA01073109.1 None
    genomic ABBA01073110.1 None
    genomic ABBA01073111.1 None
    genomic ABBA01073112.1 None
    genomic ABBA01073113.1 None
    genomic ABBA01073114.1 None
    genomic ABBA01073115.1 None
    genomic ABBA01073116.1 None
    genomic ABBA01073117.1 None
    genomic ABBA01073118.1 None
    genomic ABBA01073119.1 None
    genomic ABBA01073120.1 None
    genomic ABBA01073121.1 None
    genomic ABBA01073122.1 None
    genomic ABBA01073123.1 None
    genomic ABBA01073124.1 None
    genomic ABBA01073125.1 None
    genomic ABBA01073126.1 None
    genomic ABBA01073127.1 None
    genomic ABBA01073128.1 None
    genomic ABBA01073129.1 None
    genomic ABBA01073130.1 None
    genomic ABBA01073131.1 None
    genomic ABBA01073132.1 None
    genomic ABBA01073133.1 None
    genomic ABBA01073134.1 None
    genomic ABBA01073135.1 None
    genomic ABBA01073136.1 None
    genomic ABBA01073137.1 None
    genomic ABBA01073138.1 None
    genomic ABBA01073139.1 None
    genomic ABBA01073140.1 None
    genomic ABBA01073141.1 None
    genomic ABBA01073142.1 None
    genomic ABBA01073143.1 None
    genomic ABBA01073144.1 None
    genomic ABBA01073145.1 None
    genomic ABBA01073146.1 None
    genomic ABBA01073147.1 None
    genomic ABBA01073148.1 None
    genomic ABBA01073149.1 None
    genomic ABBA01073150.1 None
    genomic ABBA01073151.1 None
    genomic ABBA01073152.1 None
    genomic ABBA01073153.1 None
    genomic ABBA01073154.1 None
    genomic ABBA01073155.1 None
    genomic ABBA01073156.1 None
    genomic ABBA01073157.1 None
    genomic ABBA01073158.1 None
    genomic ABBA01073159.1 None
    genomic ABBA01073160.1 None
    genomic ABBA01073161.1 None
    genomic ABBA01073162.1 None
    genomic ABBA01073163.1 None
    genomic ABBA01073164.1 None
    genomic ABBA01073165.1 None
    genomic ABBA01073166.1 None
    genomic ABBA01073167.1 None
    genomic ABBA01073168.1 None
    genomic ABBA01073169.1 None
    genomic ABBA01073170.1 None
    genomic ABBA01073171.1 None
    genomic ABBA01073172.1 None
    genomic ABBA01073173.1 None
    genomic ABBA01073174.1 None
    genomic ABBA01073175.1 None
    genomic ABBA01073176.1 None
    genomic ABBA01073177.1 None
    genomic ABBA01073178.1 None
    genomic ABBA01073179.1 None
    genomic ABBA01073180.1 None
    genomic ABBA01073181.1 None
    genomic ABBA01073182.1 None
    genomic ABBA01073183.1 None
    genomic ABBA01073184.1 None
    genomic ABBA01073185.1 None
    genomic ABBA01073186.1 None
    genomic ABBA01073187.1 None
    genomic ABBA01073188.1 None
    genomic ABBA01073189.1 None
    genomic ABBA01073190.1 None
    genomic ABBA01073191.1 None
    genomic ABBA01073192.1 None
    genomic ABBA01073193.1 None
    genomic ABBA01073194.1 None
    genomic ABBA01073195.1 None
    genomic ABBA01073196.1 None
    genomic ABBA01073197.1 None
    genomic ABBA01073198.1 None
    genomic ABBA01073199.1 None
    genomic ABBA01073200.1 None
    genomic ABBA01073201.1 None
    genomic ABBA01073202.1 None
    genomic ABBA01073203.1 None
    genomic ABBA01073204.1 None
    genomic ABBA01073205.1 None
    genomic ABBA01073206.1 None
    genomic ABBA01073207.1 None
    genomic ABBA01073208.1 None
    genomic ABBA01073209.1 None
    genomic ABBA01073210.1 None
    genomic ABBA01073211.1 None
    genomic ABBA01073212.1 None
    genomic ABBA01073213.1 None
    genomic ABBA01073214.1 None
    genomic ABBA01073215.1 None
    genomic ABBA01073216.1 None
    genomic ABBA01073217.1 None
    genomic ABBA01073218.1 None
    genomic ABBA01073219.1 None
    genomic ABBA01073220.1 None
    genomic ABBA01073221.1 None
    genomic ABBA01073222.1 None
    genomic ABBA01073223.1 None
    genomic ABBA01073224.1 None
    genomic ABBA01073225.1 None
    genomic ABBA01073226.1 None
    genomic ABBA01073227.1 None
    genomic ABBA01073228.1 None
    genomic ABBA01073229.1 None
    genomic ABBA01073230.1 None
    genomic ABBA01073231.1 None
    genomic ABBA01073232.1 None
    genomic ABBA01073233.1 None
    genomic ABBA01073234.1 None
    genomic ABBA01073235.1 None
    genomic ABBA01073236.1 None
    genomic ABBA01073237.1 None
    genomic ABBA01073238.1 None
    genomic ABBA01073239.1 None
    genomic ABBA01073240.1 None
    genomic ABBA01073241.1 None
    genomic ABBA01073242.1 None
    genomic ABBA01073243.1 None
    genomic ABBA01073244.1 None
    genomic ABBA01073245.1 None
    genomic ABBA01073246.1 None
    genomic ABBA01073247.1 None
    genomic ABBA01073248.1 None
    genomic ABBA01073249.1 None
    genomic ABBA01073250.1 None
    genomic ABBA01073251.1 None
    genomic ABBA01073252.1 None
    genomic ABBA01073253.1 None
    genomic ABBA01073254.1 None
    genomic ABBA01073255.1 None
    genomic ABBA01073256.1 None
    genomic ABBA01073257.1 None
    genomic ABBA01073258.1 None
    genomic ABBA01073259.1 None
    genomic ABBA01073260.1 None
    genomic ABBA01073261.1 None
    genomic ABBA01073262.1 None
    genomic ABBA01073263.1 None
    genomic ABBA01073264.1 (1958..7236) None
    genomic AC004468.1 (2..125756) None
    genomic AC006061.1 (91000..98056) None
    genomic AC078957.16 (2..196999) None
    genomic AC078958.30 (2002..187546) None
    genomic AC079143.17 (1999..5303) None
    genomic AC079175.24 (2..161198) None
    genomic AC079177.21 (2009..155533) None
    genomic AC079864.22 (1570..161874) None
    genomic AC090632.13 None
    genomic AC093167.11 (2072..75001) None
    genomic AC093193.11 (2647..83001) None
    genomic AC096506.5 (2007..120135) None
    genomic AF047502.1 AAD03808.1
    genomic AF047505.1 AAD03809.1
    genomic AF213402.1 AAL61550.1
    genomic AF213403.1 AAL61551.1
    genomic AF213404.1 AAL61552.1
    genomic AF213405.1 AAL61553.1
    genomic AF213406.1 AAL61554.1
    genomic AF213407.1 AAL61555.1
    genomic AF213408.1 AAL61556.1
    genomic AF213409.1 AAL61557.1
    genomic AF213410.1 AAL61558.1
    genomic AF213411.1 AAL61559.1
    genomic AF213412.1 AAL65098.1
    genomic AF213413.1 AAL61560.1
    genomic AF213414.1 AAL61561.1
    genomic AF213415.1 AAL61562.1
    genomic AF213416.1 AAL61563.1
    genomic AF213417.1 AAL61564.1
    genomic AF213418.1 AAL61565.1
    genomic AF213419.1 AAL61566.1
    genomic AF213420.1 AAL61567.1
    genomic AF213421.1 AAL61568.1
    genomic AF213422.1 AAL61569.1
    genomic AF213423.1 AAL61570.1
    genomic AF213424.1 AAL61571.1
    genomic AF213425.1 AAL61572.1
    genomic AF213426.1 AAL61573.1
    genomic AF213427.1 AAL61574.1
    genomic AF213428.1 AAL61575.1
    genomic AF213429.1 AAL61576.1
    genomic AF213430.1 AAL61577.1
    genomic AF213431.1 AAL61578.1
    genomic AF213433.1 AAL61579.1
    genomic AF213434.1 AAL61580.1
    genomic AF213435.1 AAL65099.1
    genomic AF213436.1 AAL65100.1
    genomic AF213437.1 AAL61581.1
    genomic AF213438.1 AAL61582.1
    genomic AF213439.1 AAL61583.1
    genomic AF213440.1 AAL61584.1
    genomic AF213441.1 AAL61585.1
    genomic AF213442.1 AAL61586.1
      AAL61587.1
    genomic AF213443.1 AAL61588.1
    genomic AF213444.1 AAL61589.1
    genomic AJ271220.2 CAD30261.1
    genomic AL031542.1 (100..132290) None
    genomic AL031643.1 (101..133889) None
    genomic AL049643.12 (100..118695) None
    genomic AL050305.9 (100..15033) None
    genomic AL096699.11 (13223..203006) None
    genomic AL109609.5 (100..109098) None
    genomic AL121880.21 (101..87065) None
    genomic AL139278.12 (76604..95866) None
    genomic AL139401.14 (101..16392) None
    genomic AL451144.5 (100..100207) None
    genomic AL596023.2 (2001..3996) None
    genomic AMYH01022195.1 (7289..420533) None
    genomic AMYH01022196.1 None
    genomic AMYH01022197.1 None
    genomic AMYH01022198.1 None
    genomic AMYH01022199.1 None
    genomic AMYH01022200.1 None
    genomic AMYH01022201.1 None
    genomic CH471074.1 EAW99061.1
      EAW99062.1
      EAW99063.1
      EAW99064.1
      EAW99065.1
      EAW99066.1
    genomic D32048.1 None
    genomic L01538.1 None
    genomic L05642.1 AAA74506.1
    genomic L05646.1 AAA74507.1
    genomic L05649.1 AAA74508.1
    genomic M23261.1 AAA52309.1
    genomic M32058.1 None
    genomic M81257.1 AAA52330.1
    genomic M86903.1 AAA35779.1
    genomic S42212.1 AAD13821.1
    genomic U27203.1 AAA86115.1
      AAA86116.1
    genomic U60822.1 AAC51631.1
    genomic U90310.1 None
    genomic U94396.1 AAB53001.1
    genomic X06293.1 CAE82077.1
    genomic X13045.1 CAA31451.1
    genomic X13046.1 CAA31452.1
    genomic X13047.1 CAA31453.1
    genomic X13048.1 CAA31454.1
    genomic X15495.1 CAA33518.1
    genomic X54820.1 CAA38589.1
    mRNA AB208836.1 BAD92073.1
    mRNA AK129855.1 None
    mRNA AK299936.1 BAG61769.1
    mRNA AK309142.1 None
    mRNA BC009242.2 AAH09242.1
    mRNA BC010932.1 None
    mRNA BC028720.1 AAH28720.1
    mRNA BC036103.1 AAH36103.1
    mRNA BC070078.1 AAH70078.1
    mRNA BC094758.1 AAH94758.1
    mRNA BC127103.1 AAI27104.2
    mRNA BC150141.1 AAI50142.1
    mRNA DA804849.1 None
    mRNA DB233002.1 None
    mRNA L35854.1 None
    mRNA M18533.1 AAA53189.1
    mRNA M63072.1 AAA52312.1
    mRNA M63073.1 AAA52313.1
    mRNA M63074.1 AAA52314.1
    mRNA M63075.1 AAA52315.1
    mRNA M92650.1 AAA52316.1
    mRNA S38776.1 AAB22395.2
    mRNA S42206.1 AAD13820.1
    mRNA S60970.1 None
    mRNA S60971.1 None
    mRNA S60972.1 None
    mRNA S60973.1 None
    mRNA S62617.1 AAB27159.1
    mRNA S64152.1 None
    mRNA S81419.1 AAD14363.1
    mRNA X06178.1 CAA29544.1
    mRNA X06179.1 CAA29545.1
    mRNA X14298.1 CAA32479.1
    mRNA X15148.1 CAA33245.1
    mRNA X15149.1 CAA33246.1
    other-genetic BC111587.2 AAI11588.1
    other-genetic BC111836.3 AAI11837.1
    other-genetic BC111934.1 AAI11935.1
    other-genetic BC118002.1 AAI18003.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P11532.3 GenPept UniProtKB/Swiss-Prot:P11532

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
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    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

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        Order cDNA clone
      • 3D structures
        3D structure of a gene
      • BioAssay
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      • BioSystems
        BioSystems
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      • CCDS
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      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • GAP
        GAP Links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
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        GTR associated with a gene
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        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
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        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • SNP: VarView
        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

      Links to other resources

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