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DMD dystrophin [ Homo sapiens (human) ]

Gene ID: 1756, updated on 18-Oct-2014
Official Symbol
DMDprovided by HGNC
Official Full Name
dystrophinprovided by HGNC
Primary source
HGNC: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; MRX85; 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]
Location:
Xp21.2
Exon count:
86
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (31119222..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 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

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...
  • 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 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...
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 
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 cell action potential ISS
Inferred from Sequence or Structural Similarity
more info
 
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 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
motile cilium assembly TAS
Traceable Author Statement
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
 
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 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 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 voltage-gated calcium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
colocalizes_with actin cytoskeleton TAS
Traceable Author Statement
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
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 
filopodium membrane IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with lateral plasma membrane TAS
Traceable Author Statement
more info
 
membrane raft TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus TAS
Traceable Author Statement
more info
 
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 
syntrophin complex TAS
Traceable Author Statement
more info
 
Preferred Names
dystrophin
Names
dystrophin
mental retardation, X-linked 85

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 

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

mRNA and Protein(s)

  1. NM_000109.3NP_000100.2  dystrophin Dp427c isoform

    See proteins identical to 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 (8) summary
    pfam09068
    Location:30793199
    EF-hand_2; EF hand
    COG1340
    Location:16961966
    COG1340; Uncharacterized archaeal coiled-coil protein [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:16711768
    Spectrin; Spectrin repeat
    pfam09069
    Location:32033294
    EF-hand_3; EF-hand
  2. NM_004006.2NP_003997.1  dystrophin Dp427m isoform

    See proteins identical to 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, OTTHUMP00000023117, ENST00000357033, OTTHUMT00000056182
    Conserved Domains (8) summary
    pfam09068
    Location:30873207
    EF-hand_2; EF hand
    COG1340
    Location:17041974
    COG1340; Uncharacterized archaeal coiled-coil protein [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:16791776
    Spectrin; Spectrin repeat
    pfam09069
    Location:32113302
    EF-hand_3; EF-hand
  3. NM_004009.3NP_004000.1  dystrophin Dp427p1 isoform

    See proteins identical to 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, OTTHUMP00000023121, ENST00000378677, OTTHUMT00000056187
    Conserved Domains (8) summary
    pfam09068
    Location:30833203
    EF-hand_2; EF hand
    COG1340
    Location:17001970
    COG1340; Uncharacterized archaeal coiled-coil protein [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:16751772
    Spectrin; Spectrin repeat
    pfam09069
    Location:32073298
    EF-hand_3; EF-hand
  4. NM_004010.3NP_004001.1  dystrophin Dp427p2 isoform

    See proteins identical to 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 (8) summary
    pfam09068
    Location:29643084
    EF-hand_2; EF hand
    COG1340
    Location:15811851
    COG1340; Uncharacterized archaeal coiled-coil protein [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:15561653
    Spectrin; Spectrin repeat
    pfam09069
    Location:30883179
    EF-hand_3; EF-hand
  5. NM_004011.3NP_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 (7) summary
    pfam09068
    Location:17461866
    EF-hand_2; EF hand
    COG1340
    Location:363633
    COG1340; Uncharacterized archaeal coiled-coil protein [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:338435
    Spectrin; Spectrin repeat
    pfam09069
    Location:18701961
    EF-hand_3; EF-hand
  6. NM_004012.3NP_004003.1  dystrophin Dp260-2 isoform

    See proteins identical to 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 (7) summary
    pfam09068
    Location:17431863
    EF-hand_2; EF hand
    COG1340
    Location:360630
    COG1340; Uncharacterized archaeal coiled-coil protein [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:335432
    Spectrin; Spectrin repeat
    pfam09069
    Location:18671958
    EF-hand_3; EF-hand
  7. NM_004013.2NP_004004.1  dystrophin Dp140 isoform

    See proteins identical to 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/TrEMBL
    A1L0U9
    UniProtKB/Swiss-Prot
    P11532
    Related
    ENSP00000367979, ENST00000378707
    Conserved Domains (5) summary
    pfam09068
    Location:627747
    EF-hand_2; EF hand
    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 ...
    pfam09069
    Location:751842
    EF-hand_3; EF-hand
  8. NM_004014.2NP_004005.1  dystrophin Dp116 isoform

    See proteins identical to 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, ENST00000343523
    Conserved Domains (6) summary
    pfam09068
    Location:358478
    EF-hand_2; EF hand
    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 ...
    pfam09069
    Location:482573
    EF-hand_3; EF-hand
    cl02600
    Location:827869
    HTH_MerR-SF; Helix-Turn-Helix DNA binding domain of transcription regulators from the MerR superfamily
  9. NM_004015.2NP_004006.1  dystrophin Dp71 isoform

    See proteins identical to 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
    Conserved Domains (4) summary
    pfam09068
    Location:19139
    EF-hand_2; EF hand
    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 ...
    pfam09069
    Location:143234
    EF-hand_3; EF-hand
    cl02600
    Location:488530
    HTH_MerR-SF; Helix-Turn-Helix DNA binding domain of transcription regulators from the MerR superfamily
  10. NM_004016.2NP_004007.1  dystrophin Dp71b isoform

    See proteins identical to 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
    Related
    ENSP00000367997, OTTHUMP00000023124, ENST00000378723, OTTHUMT00000056194
    Conserved Domains (4) summary
    pfam09068
    Location:19139
    EF-hand_2; EF hand
    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 ...
    pfam09069
    Location:143234
    EF-hand_3; EF-hand
    pfam15552
    Location:410605
    DUF4657; Domain of unknown function (DUF4657)
  11. NM_004017.2NP_004008.1  dystrophin Dp71a isoform

    See proteins identical to 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
    pfam09068
    Location:19139
    EF-hand_2; EF hand
    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 ...
    pfam09069
    Location:143234
    EF-hand_3; EF-hand
    cl02600
    Location:475517
    HTH_MerR-SF; Helix-Turn-Helix DNA binding domain of transcription regulators from the MerR superfamily
  12. NM_004018.2NP_004009.1  dystrophin Dp71ab isoform

    See proteins identical to 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
    Conserved Domains (4) summary
    pfam09068
    Location:19139
    EF-hand_2; EF hand
    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 ...
    pfam09069
    Location:143234
    EF-hand_3; EF-hand
    pfam15552
    Location:397592
    DUF4657; Domain of unknown function (DUF4657)
  13. NM_004019.2NP_004010.1  dystrophin Dp40 isoform

    See proteins identical to 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 (3) summary
    pfam09068
    Location:19139
    EF-hand_2; EF hand
    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 ...
    pfam09069
    Location:143234
    EF-hand_3; EF-hand
  14. NM_004020.3NP_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
    pfam09068
    Location:627747
    EF-hand_2; EF hand
    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 ...
    pfam09069
    Location:751842
    EF-hand_3; EF-hand
  15. NM_004021.2NP_004012.1  dystrophin Dp140b isoform

    See proteins identical to 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/TrEMBL
    A7E212
    UniProtKB/Swiss-Prot
    P11532
    Conserved Domains (6) summary
    pfam09068
    Location:627747
    EF-hand_2; EF hand
    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 ...
    pfam09069
    Location:751842
    EF-hand_3; EF-hand
    pfam15552
    Location:10181213
    DUF4657; Domain of unknown function (DUF4657)
  16. NM_004022.2NP_004013.1  dystrophin Dp140ab isoform

    See proteins identical to 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, ENST00000359836
    Conserved Domains (6) summary
    pfam09068
    Location:627747
    EF-hand_2; EF hand
    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 ...
    pfam09069
    Location:751842
    EF-hand_3; EF-hand
    pfam15552
    Location:10051200
    DUF4657; Domain of unknown function (DUF4657)
  17. NM_004023.2NP_004014.1  dystrophin Dp140bc isoform

    See proteins identical to 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 (5) summary
    pfam09068
    Location:627747
    EF-hand_2; EF hand
    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 ...
    pfam09069
    Location:751842
    EF-hand_3; EF-hand

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    31119222..33339609
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724469.1XP_006724532.1  

    Conserved Domains (9) summary
    pfam09068
    Location:30793199
    EF-hand_2; EF hand
    COG1340
    Location:16961966
    COG1340; Uncharacterized archaeal coiled-coil protein [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:16711768
    Spectrin; Spectrin repeat
    pfam09069
    Location:32033294
    EF-hand_3; EF-hand
    pfam15552
    Location:34703665
    DUF4657; Domain of unknown function (DUF4657)
  2. XM_006724472.1XP_006724535.1  

    Conserved Domains (9) summary
    pfam09068
    Location:30443164
    EF-hand_2; EF hand
    COG1340
    Location:16611931
    COG1340; Uncharacterized archaeal coiled-coil protein [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:298515
    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:30163045
    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:32683316
    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:16361733
    Spectrin; Spectrin repeat
    pfam09069
    Location:31683259
    EF-hand_3; EF-hand
    pfam15552
    Location:34353630
    DUF4657; Domain of unknown function (DUF4657)
  3. XM_006724473.1XP_006724536.1  

    Conserved Domains (8) summary
    pfam09068
    Location:30413161
    EF-hand_2; EF hand
    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:18311933
    Spectrin; Spectrin repeat
    pfam09069
    Location:31653256
    EF-hand_3; EF-hand
    pfam15552
    Location:34323627
    DUF4657; Domain of unknown function (DUF4657)
  4. XM_006724474.1XP_006724537.1  

    Conserved Domains (8) summary
    pfam09068
    Location:30873207
    EF-hand_2; EF hand
    COG1340
    Location:17041974
    COG1340; Uncharacterized archaeal coiled-coil protein [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:16791776
    Spectrin; Spectrin repeat
    pfam09069
    Location:32113302
    EF-hand_3; EF-hand
  5. XM_006724475.1XP_006724538.1  

    Conserved Domains (8) summary
    pfam09068
    Location:30873207
    EF-hand_2; EF hand
    COG1340
    Location:17041974
    COG1340; Uncharacterized archaeal coiled-coil protein [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:16791776
    Spectrin; Spectrin repeat
    pfam09069
    Location:32113302
    EF-hand_3; EF-hand
  6. XM_006724471.1XP_006724534.1  

    Conserved Domains (9) summary
    pfam09068
    Location:30873207
    EF-hand_2; EF hand
    COG1340
    Location:17041974
    COG1340; Uncharacterized archaeal coiled-coil protein [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:16791776
    Spectrin; Spectrin repeat
    pfam09069
    Location:32113302
    EF-hand_3; EF-hand
    pfam15552
    Location:34433638
    DUF4657; Domain of unknown function (DUF4657)
  7. XM_006724470.1XP_006724533.1  

    Conserved Domains (9) summary
    pfam09068
    Location:30873207
    EF-hand_2; EF hand
    COG1340
    Location:17041974
    COG1340; Uncharacterized archaeal coiled-coil protein [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:16791776
    Spectrin; Spectrin repeat
    pfam09069
    Location:32113302
    EF-hand_3; EF-hand
    pfam15552
    Location:34653660
    DUF4657; Domain of unknown function (DUF4657)
  8. XM_006724468.1XP_006724531.1  

    Conserved Domains (9) summary
    pfam09068
    Location:30873207
    EF-hand_2; EF hand
    COG1340
    Location:17041974
    COG1340; Uncharacterized archaeal coiled-coil protein [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:16791776
    Spectrin; Spectrin repeat
    pfam09069
    Location:32113302
    EF-hand_3; EF-hand
    pfam15552
    Location:34783673
    DUF4657; Domain of unknown function (DUF4657)
  9. XM_006724476.1XP_006724539.1  

    Conserved Domains (8) summary
    pfam09068
    Location:22972417
    EF-hand_2; EF hand
    COG1340
    Location:9141184
    COG1340; Uncharacterized archaeal coiled-coil protein [Function unknown]
    cd00176
    Location:13151530
    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:22692298
    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:25212569
    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:889986
    Spectrin; Spectrin repeat
    pfam09069
    Location:24212512
    EF-hand_3; EF-hand
    pfam15552
    Location:26882883
    DUF4657; Domain of unknown function (DUF4657)

RNA

  1. XR_430491.1 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000155.1 

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

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    31168731..33388091
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.