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    DMD dystrophin [ Homo sapiens (human) ]

    Gene ID: 1756, updated on 20-May-2018
    Official Symbol
    DMDprovided by HGNC
    Official Full Name
    dystrophinprovided by HGNC
    Primary source
    HGNC:HGNC:2928
    See related
    Ensembl:ENSG00000198947 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; MRX85; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272
    Summary
    This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016]
    Expression
    Ubiquitous expression in heart (RPKM 7.1), fat (RPKM 4.3) and 23 other tissues See more
    Orthologs
    See DMD in Genome Data Viewer
    Location:
    Xp21.2-p21.1
    Exon count:
    89
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (31119219..33339609, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (31137345..33357726, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene TAB3 antisense RNA 1 Neighboring gene TGF-beta activated kinase 1 (MAP3K7) binding protein 3 Neighboring gene ferritin heavy chain like 17 Neighboring gene RNA, U6 small nuclear 894, pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 501 Neighboring gene nucleophosmin 1 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 uncharacterized LOC105373153

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-10-04)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-10-04)

    ClinGen Genome Curation Page

    NHGRI GWAS Catalog

    Description
    A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
    NHGRI GWA Catalog
    Genome-wide association study of co-occurring anxiety in major depression.
    NHGRI GWA Catalog
    Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.
    NHGRI GWA Catalog
    • 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...
    • Ectoderm Differentiation, organism-specific biosystem (from WikiPathways)
      Ectoderm Differentiation, organism-specific biosystemModel depicting ectoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
    • 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.
    • Non-integrin membrane-ECM interactions, organism-specific biosystem (from REACTOME)
      Non-integrin membrane-ECM interactions, organism-specific biosystemSeveral non-integrin membrane proteins interact with extracellular matrix proteins. Transmembrane proteoglycans may associate with integrins and growth factor receptors to influence their function, o...
    • 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....
    • 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...
    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    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 
    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 cell action potential ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    cardiac muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular protein localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular protein-containing complex assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    muscle cell cellular homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    muscle fiber development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    muscle filament sliding TAS
    Traceable Author Statement
    more info
     
    muscle organ development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    negative regulation of peptidyl-cysteine S-nitrosylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    negative regulation of peptidyl-serine phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    peptide biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of sodium ion transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    regulation of heart rate IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    regulation of ryanodine-sensitive calcium-release channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    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 voltage-gated calcium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    response to muscle stretch ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    Z disc ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell-substrate junction ISS
    Inferred from Sequence or Structural Similarity
    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
    PubMed 
    filopodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    filopodium membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with lateral plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    membrane raft ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neuron projection terminus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sarcolemma IDA
    Inferred from Direct Assay
    more info
    PubMed 
    synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    syntrophin complex TAS
    Traceable Author Statement
    more info
    PubMed 

    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_000109.3NP_000100.2  dystrophin isoform Dp427c

      See identical proteins and their annotated locations for NP_000100.2

      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 (11) summary
      COG1340
      Location:16961966
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00014
      Location:127232
      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:333550
      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:30513080
      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:33033351
      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 ...
      pfam00435
      Location:29263032
      Spectrin; Spectrin repeat
      pfam01442
      Location:28863032
      Apolipoprotein; Apolipoprotein A1/A4/E domain
      pfam09068
      Location:30813199
      EF-hand_2; EF hand
      pfam09069
      Location:32033294
      EF-hand_3; EF-hand
      pfam16769
      Location:34803663
      MCM3AP_GANP; MCM3AP domain of GANP
      cl02488
      Location:14591668
      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; ...
    2. NM_004006.2NP_003997.1  dystrophin isoform Dp427m

      See identical proteins and their annotated locations for NP_003997.1

      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
      ENSP00000354923.3, OTTHUMP00000023117, ENST00000357033.8, OTTHUMT00000056182
      Conserved Domains (11) summary
      COG1340
      Location:17041974
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00014
      Location:135240
      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:341558
      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:30593088
      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:33113359
      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 ...
      pfam00435
      Location:29343040
      Spectrin; Spectrin repeat
      pfam01442
      Location:28943040
      Apolipoprotein; Apolipoprotein A1/A4/E domain
      pfam09068
      Location:30893207
      EF-hand_2; EF hand
      pfam09069
      Location:32113302
      EF-hand_3; EF-hand
      pfam16769
      Location:34883671
      MCM3AP_GANP; MCM3AP domain of GANP
      cl02488
      Location:14671676
      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; ...
    3. NM_004009.3NP_004000.1  dystrophin isoform Dp427p1

      See identical proteins and their annotated locations for NP_004000.1

      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
      ENSP00000367948.2, OTTHUMP00000023121, ENST00000378677.6, OTTHUMT00000056187
      Conserved Domains (11) summary
      COG1340
      Location:17001970
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00014
      Location:131236
      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:337554
      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:30553084
      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:33073355
      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 ...
      pfam00435
      Location:29303036
      Spectrin; Spectrin repeat
      pfam01442
      Location:28903036
      Apolipoprotein; Apolipoprotein A1/A4/E domain
      pfam09068
      Location:30853203
      EF-hand_2; EF hand
      pfam09069
      Location:32073298
      EF-hand_3; EF-hand
      pfam16769
      Location:34843667
      MCM3AP_GANP; MCM3AP domain of GANP
      cl02488
      Location:14631672
      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; ...
    4. NM_004010.3NP_004001.1  dystrophin isoform Dp427p2

      See identical proteins and their annotated locations for NP_004001.1

      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 (11) summary
      COG1340
      Location:15811851
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00014
      Location:12117
      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:218435
      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:29362965
      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:31883236
      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 ...
      pfam00435
      Location:28112917
      Spectrin; Spectrin repeat
      pfam01442
      Location:27712917
      Apolipoprotein; Apolipoprotein A1/A4/E domain
      pfam09068
      Location:29663084
      EF-hand_2; EF hand
      pfam09069
      Location:30883179
      EF-hand_3; EF-hand
      pfam16769
      Location:33653548
      MCM3AP_GANP; MCM3AP domain of GANP
      cl02488
      Location:13441553
      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; ...
    5. NM_004011.3NP_004002.2  dystrophin isoform Dp260-1

      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 (10) summary
      COG1340
      Location:363633
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00176
      Location:764979
      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:17181747
      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:19702018
      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 ...
      pfam00435
      Location:15931699
      Spectrin; Spectrin repeat
      pfam01442
      Location:15531699
      Apolipoprotein; Apolipoprotein A1/A4/E domain
      pfam09068
      Location:17481866
      EF-hand_2; EF hand
      pfam09069
      Location:18701961
      EF-hand_3; EF-hand
      pfam16769
      Location:21472330
      MCM3AP_GANP; MCM3AP domain of GANP
      cl02488
      Location:126335
      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; ...
    6. NM_004012.3NP_004003.1  dystrophin isoform Dp260-2

      See identical proteins and their annotated locations for NP_004003.1

      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 (10) summary
      COG1340
      Location:360630
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00176
      Location:761976
      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:17151744
      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:19672015
      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 ...
      pfam00435
      Location:15901696
      Spectrin; Spectrin repeat
      pfam01442
      Location:15501696
      Apolipoprotein; Apolipoprotein A1/A4/E domain
      pfam09068
      Location:17451863
      EF-hand_2; EF hand
      pfam09069
      Location:18671958
      EF-hand_3; EF-hand
      pfam16769
      Location:21442327
      MCM3AP_GANP; MCM3AP domain of GANP
      cl02488
      Location:123332
      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; ...
    7. NM_004013.2NP_004004.1  dystrophin isoform Dp140

      See identical proteins and their annotated locations for NP_004004.1

      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/Swiss-Prot
      P11532
      UniProtKB/TrEMBL
      A1L0U9
      Related
      ENSP00000367979.3, ENST00000378707.7
      Conserved Domains (7) summary
      cd00176
      Location:230473
      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:599628
      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:851899
      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 ...
      pfam00435
      Location:474580
      Spectrin; Spectrin repeat
      pfam09068
      Location:629747
      EF-hand_2; EF hand
      pfam09069
      Location:751842
      EF-hand_3; EF-hand
      pfam16769
      Location:10281211
      MCM3AP_GANP; MCM3AP domain of GANP
    8. NM_004014.2NP_004005.1  dystrophin isoform Dp116

      See identical proteins and their annotated locations for NP_004005.1

      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
      Consensus CDS
      CCDS75965.1
      UniProtKB/Swiss-Prot
      P11532
      Related
      ENSP00000340057.3, ENST00000343523.6
      Conserved Domains (8) summary
      cd00176
      Location:10204
      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:330359
      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:582630
      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 ...
      pfam00435
      Location:205311
      Spectrin; Spectrin repeat
      pfam01442
      Location:165311
      Apolipoprotein; Apolipoprotein A1/A4/E domain
      pfam09068
      Location:360478
      EF-hand_2; EF hand
      pfam09069
      Location:482573
      EF-hand_3; EF-hand
      pfam16769
      Location:759942
      MCM3AP_GANP; MCM3AP domain of GANP
    9. NM_004015.2NP_004006.1  dystrophin isoform Dp71

      See identical proteins and their annotated locations for NP_004006.1

      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
      UniProtKB/TrEMBL
      A0A0S2Z3B5
      Related
      ENSP00000367974.4, OTTHUMP00000023126, ENST00000378702.8, OTTHUMT00000056196
      Conserved Domains (4) summary
      cd02334
      Location:243291
      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:21139
      EF-hand_2; EF hand
      pfam09069
      Location:143234
      EF-hand_3; EF-hand
      pfam16769
      Location:420603
      MCM3AP_GANP; MCM3AP domain of GANP
    10. NM_004016.2NP_004007.1  dystrophin isoform Dp71b

      See identical proteins and their annotated locations for NP_004007.1

      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
      UniProtKB/TrEMBL
      A0A0S2Z3J7
      Related
      ENSP00000367997.3, OTTHUMP00000023124, ENST00000378723.7, OTTHUMT00000056194
      Conserved Domains (3) summary
      cd02334
      Location:243291
      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 ...
      cd16246
      Location:57218
      EFh_DMD; EF-hand-like motif found in dystrophin
      cl25732
      Location:367537
      SMC_N; RecF/RecN/SMC N terminal domain
    11. NM_004017.2NP_004008.1  dystrophin isoform Dp71a

      See identical proteins and their annotated locations for NP_004008.1

      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:243291
      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:21139
      EF-hand_2; EF hand
      pfam09069
      Location:143234
      EF-hand_3; EF-hand
      pfam16769
      Location:407590
      MCM3AP_GANP; MCM3AP domain of GANP
    12. NM_004018.2NP_004009.1  dystrophin isoform Dp71ab

      See identical proteins and their annotated locations for NP_004009.1

      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
      Related
      ENSP00000354464.4, OTTHUMP00000023125, ENST00000361471.8, OTTHUMT00000056195
      Conserved Domains (4) summary
      cd02334
      Location:243291
      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:21139
      EF-hand_2; EF hand
      pfam09069
      Location:143234
      EF-hand_3; EF-hand
      pfam16769
      Location:407600
      MCM3AP_GANP; MCM3AP domain of GANP
    13. NM_004019.2NP_004010.1  dystrophin isoform Dp40

      See identical proteins and their annotated locations for NP_004010.1

      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 (2) summary
      cd02334
      Location:243291
      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 ...
      cd16246
      Location:57218
      EFh_DMD; EF-hand-like motif found in dystrophin
    14. NM_004020.3NP_004011.2  dystrophin isoform Dp140c

      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
      ENSP00000444119.1, ENST00000541735.5
      Conserved Domains (7) summary
      cd00176
      Location:230473
      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:599628
      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:851899
      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 ...
      pfam00435
      Location:474580
      Spectrin; Spectrin repeat
      pfam09068
      Location:629747
      EF-hand_2; EF hand
      pfam09069
      Location:751842
      EF-hand_3; EF-hand
      pfam16769
      Location:9661101
      MCM3AP_GANP; MCM3AP domain of GANP
    15. NM_004021.2NP_004012.1  dystrophin isoform Dp140b

      See identical proteins and their annotated locations for NP_004012.1

      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/Swiss-Prot
      P11532
      UniProtKB/TrEMBL
      A7E212
      Related
      ENSP00000417123.1, OTTHUMP00000215846, ENST00000474231.5, OTTHUMT00000356267
      Conserved Domains (7) summary
      cd00176
      Location:230473
      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:599628
      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:851899
      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 ...
      pfam00435
      Location:474580
      Spectrin; Spectrin repeat
      pfam09068
      Location:629747
      EF-hand_2; EF hand
      pfam09069
      Location:751842
      EF-hand_3; EF-hand
      pfam16769
      Location:10281221
      MCM3AP_GANP; MCM3AP domain of GANP
    16. NM_004022.2NP_004013.1  dystrophin isoform D140ab

      See identical proteins and their annotated locations for NP_004013.1

      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
      ENSP00000352894.1, ENST00000359836.5
      Conserved Domains (7) summary
      cd00176
      Location:230473
      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:599628
      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:851899
      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 ...
      pfam00435
      Location:474580
      Spectrin; Spectrin repeat
      pfam09068
      Location:629747
      EF-hand_2; EF hand
      pfam09069
      Location:751842
      EF-hand_3; EF-hand
      pfam16769
      Location:10151208
      MCM3AP_GANP; MCM3AP domain of GANP
    17. NM_004023.2NP_004014.1  dystrophin isoform Dp140bc

      See identical proteins and their annotated locations for NP_004014.1

      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
      Conserved Domains (7) summary
      cd00176
      Location:230473
      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:599628
      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:851899
      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 ...
      pfam00435
      Location:474580
      Spectrin; Spectrin repeat
      pfam09068
      Location:629747
      EF-hand_2; EF hand
      pfam09069
      Location:751842
      EF-hand_3; EF-hand
      pfam16769
      Location:9661111
      MCM3AP_GANP; MCM3AP domain of GANP

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

      Range
      31119219..33339609 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006724469.3XP_006724532.1  dystrophin isoform X2

      Conserved Domains (11) summary
      COG1340
      Location:16961966
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00014
      Location:127232
      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:333550
      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:30513080
      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:33033351
      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 ...
      pfam00435
      Location:29263032
      Spectrin; Spectrin repeat
      pfam01442
      Location:28863032
      Apolipoprotein; Apolipoprotein A1/A4/E domain
      pfam09068
      Location:30813199
      EF-hand_2; EF hand
      pfam09069
      Location:32033294
      EF-hand_3; EF-hand
      pfam16769
      Location:34803673
      MCM3AP_GANP; MCM3AP domain of GANP
      cl02488
      Location:14591668
      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; ...
    2. XM_011545467.1XP_011543769.1  dystrophin isoform X5

      Conserved Domains (11) summary
      COG1340
      Location:16721933
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00014
      Location:135240
      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:341558
      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:30183047
      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:32703318
      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 ...
      pfam00435
      Location:28932999
      Spectrin; Spectrin repeat
      pfam01442
      Location:28532999
      Apolipoprotein; Apolipoprotein A1/A4/E domain
      pfam09068
      Location:30483166
      EF-hand_2; EF hand
      pfam09069
      Location:31703261
      EF-hand_3; EF-hand
      pfam16769
      Location:34473640
      MCM3AP_GANP; MCM3AP domain of GANP
      cl02488
      Location:14671676
      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; ...
    3. XM_006724473.2XP_006724536.1  dystrophin isoform X6

      Conserved Domains (10) summary
      cd00014
      Location:135240
      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:341558
      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:30133042
      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:32653313
      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 ...
      pfam00435
      Location:28882994
      Spectrin; Spectrin repeat
      pfam01442
      Location:28482994
      Apolipoprotein; Apolipoprotein A1/A4/E domain
      pfam09068
      Location:30433161
      EF-hand_2; EF hand
      pfam09069
      Location:31653256
      EF-hand_3; EF-hand
      pfam16769
      Location:34423635
      MCM3AP_GANP; MCM3AP domain of GANP
      cl02488
      Location:14671676
      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; ...
    4. XM_006724475.2XP_006724538.1  dystrophin isoform X8

      Conserved Domains (11) summary
      COG1340
      Location:17041974
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00014
      Location:135240
      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:341558
      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:30593088
      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:33113359
      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 ...
      pfam00435
      Location:29343040
      Spectrin; Spectrin repeat
      pfam01442
      Location:28943040
      Apolipoprotein; Apolipoprotein A1/A4/E domain
      pfam09068
      Location:30893207
      EF-hand_2; EF hand
      pfam09069
      Location:32113302
      EF-hand_3; EF-hand
      pfam16769
      Location:34263561
      MCM3AP_GANP; MCM3AP domain of GANP
      cl02488
      Location:14671676
      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; ...
    5. XM_017029328.1XP_016884817.1  dystrophin isoform X4

    6. XM_006724468.2XP_006724531.1  dystrophin isoform X1

      Conserved Domains (11) summary
      COG1340
      Location:17041974
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00014
      Location:135240
      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:341558
      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:30593088
      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:33113359
      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 ...
      pfam00435
      Location:29343040
      Spectrin; Spectrin repeat
      pfam01442
      Location:28943040
      Apolipoprotein; Apolipoprotein A1/A4/E domain
      pfam09068
      Location:30893207
      EF-hand_2; EF hand
      pfam09069
      Location:32113302
      EF-hand_3; EF-hand
      pfam16769
      Location:34883681
      MCM3AP_GANP; MCM3AP domain of GANP
      cl02488
      Location:14671676
      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; ...
    7. XM_017029331.1XP_016884820.1  dystrophin isoform X13

    8. XM_006724470.3XP_006724533.1  dystrophin isoform X3

      Conserved Domains (11) summary
      COG1340
      Location:17041974
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00014
      Location:135240
      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:341558
      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:30593088
      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:33113359
      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 ...
      pfam00435
      Location:29343040
      Spectrin; Spectrin repeat
      pfam01442
      Location:28943040
      Apolipoprotein; Apolipoprotein A1/A4/E domain
      pfam09068
      Location:30893207
      EF-hand_2; EF hand
      pfam09069
      Location:32113302
      EF-hand_3; EF-hand
      pfam16769
      Location:34753668
      MCM3AP_GANP; MCM3AP domain of GANP
      cl02488
      Location:14671676
      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; ...
    9. XM_006724474.3XP_006724537.1  dystrophin isoform X7

      Conserved Domains (11) summary
      COG1340
      Location:17041974
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00014
      Location:135240
      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:341558
      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:30593088
      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:33113359
      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 ...
      pfam00435
      Location:29343040
      Spectrin; Spectrin repeat
      pfam01442
      Location:28943040
      Apolipoprotein; Apolipoprotein A1/A4/E domain
      pfam09068
      Location:30893207
      EF-hand_2; EF hand
      pfam09069
      Location:32113302
      EF-hand_3; EF-hand
      pfam16769
      Location:34263571
      MCM3AP_GANP; MCM3AP domain of GANP
      cl02488
      Location:14671676
      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; ...
    10. XM_011545468.2XP_011543770.1  dystrophin isoform X9

      Conserved Domains (9) summary
      COG1340
      Location:17041974
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00014
      Location:135240
      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:341558
      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:30593088
      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 ...
      pfam00435
      Location:29343040
      Spectrin; Spectrin repeat
      pfam01442
      Location:28943040
      Apolipoprotein; Apolipoprotein A1/A4/E domain
      pfam09068
      Location:30893207
      EF-hand_2; EF hand
      pfam09069
      Location:32113272
      EF-hand_3; EF-hand
      cl02488
      Location:14671676
      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; ...
    11. XM_017029330.2XP_016884819.1  dystrophin isoform X11

    12. XM_017029329.1XP_016884818.1  dystrophin isoform X10

    13. XM_011545469.1XP_011543771.1  dystrophin isoform X12

      Conserved Domains (4) summary
      cd00014
      Location:135240
      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:341558
      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; ...
      pfam00435
      Location:16791776
      Spectrin; Spectrin repeat
      cl02488
      Location:14671676
      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; ...

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_004007.2: Suppressed sequence

      Description
      NM_004007.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript, which appears to have been derived from a disease-associated deletion mutation.
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