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UniProtKB - P11532 (DMD_HUMAN)

Entry version 251 (29 Sep 2021)
Sequence version 3 (30 Nov 2010)
Previous versions | rss
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Protein

Dystrophin

Gene

DMD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission.

By similarity1 Publication

Miscellaneous

The DMD gene is the largest known gene in humans. It is 2.4 million base-pairs in size, comprises 79 exons and takes over 16 hours to be transcribed and cotranscriptionally spliced.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi3313ZincPROSITE-ProRule annotation1
Metal bindingi3316ZincPROSITE-ProRule annotation1
Metal bindingi3337ZincPROSITE-ProRule annotation1
Metal bindingi3340ZincPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri3308 – 3364ZZ-type; degeneratePROSITE-ProRule annotationAdd BLAST57

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActin-binding
LigandCalcium, Metal-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P11532

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-3000171, Non-integrin membrane-ECM interactions
R-HSA-390522, Striated Muscle Contraction

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P11532

SIGNOR Signaling Network Open Resource

More...SIGNORi		P11532

Protein family/group databases

Transport Classification Database

More...TCDBi		8.A.66.1.2, the dystrophin (dystrophin) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Dystrophin
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:DMD
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:2928, DMD

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		300377, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P11532

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000198947

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasm, Cytoskeleton, Membrane, Postsynaptic cell membrane, Synapse

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Duchenne muscular dystrophy (DMD)6 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionMost common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00514754L → R in DMD. 1 Publication1
Natural variantiVAR_023541645D → G in DMD. 1 Publication1
Natural variantiVAR_005154773K → E in DMD. 1
Natural variantiVAR_0051662305 – 2366Missing in DMD. Add BLAST62
Natural variantiVAR_0235453313C → F in DMD; results in highly reduced protein levels and expression at the sarcolemma. 2 Publications1
Natural variantiVAR_0235463335D → H in DMD; does not affect protein stability; does not affect protein expression at the sarcolemma; interaction with DAG1 is reduced. 2 Publications1
Natural variantiVAR_0235473340C → Y in DMD; results in highly reduced protein levels and expression at the sarcolemma. 2 Publications1
Becker muscular dystrophy (BMD)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA neuromuscular disorder characterized by dystrophin deficiency. It appears between the age of 5 and 15 years with a proximal motor deficiency of variable progression. Heart involvement can be the initial sign. Becker muscular dystrophy has a more benign course than Duchenne muscular dystrophy.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00514632 – 62Missing in BMD. Add BLAST31
Natural variantiVAR_005149168A → D in BMD. 1
Natural variantiVAR_023539171A → P in BMD. 1 Publication1
Natural variantiVAR_005150231Y → N in BMD. 1
Natural variantiVAR_005152495 – 534Missing in BMD. Add BLAST40
Natural variantiVAR_0051702921H → R in BMD. Corresponds to variant dbSNP:rs1800279EnsemblClinVar.1
Natural variantiVAR_0051723421A → V in BMD. 1
Cardiomyopathy, dilated, X-linked 3B (CMD3B)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02353718K → N in CMD3B; decreased thermodynamic stability; accelerated unfolding, perturbed protein structure; no effect on anchoring function. 2 Publications1
Natural variantiVAR_023540279T → A in CMD3B. 1 Publication1
Natural variantiVAR_0235443228F → L in CMD3B. 1 Publication1

Keywords - Diseasei

Cardiomyopathy, Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		1756

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		DMD

MalaCards human disease database

More...MalaCardsi		DMD
MIMi300376, phenotype
302045, phenotype
310200, phenotype

Open Targets

More...OpenTargetsi		ENSG00000198947

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		98895, Becker muscular dystrophy
98896, Duchenne muscular dystrophy
154, Familial isolated dilated cardiomyopathy
206546, Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
777, X-linked non-syndromic intellectual disability

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27378

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P11532, Tclin

Chemistry databases

Drug and drug target database

More...DrugBanki		DB15593, Golodirsen

DrugCentral

More...DrugCentrali		P11532

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		DMD

Domain mapping of disease mutations (DMDM)

More...DMDMi		313104240

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000760751 – 3685DystrophinAdd BLAST3685

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei3483PhosphoserineCombined sources1
Modified residuei3490PhosphoserineCombined sources1
Modified residuei3500PhosphoserineCombined sources1
Modified residuei3612PhosphoserineCombined sources1
Modified residuei3613PhosphoserineCombined sources1
Modified residuei3617PhosphoserineCombined sources1
Modified residuei3623PhosphoserineCombined sources1
Modified residuei3624PhosphoserineCombined sources1
Modified residuei3666PhosphoserineCombined sources1
Isoform 15 (identifier: P11532-5)
Modified residuei340PhosphothreonineCombined sources1
Modified residuei344PhosphoserineCombined sources1
Modified residuei348PhosphoserineCombined sources1
Modified residuei616PhosphothreonineCombined sources1
Isoform 13 (identifier: P11532-8)
Modified residuei340PhosphothreonineCombined sources1
Modified residuei344PhosphoserineCombined sources1
Modified residuei348PhosphoserineCombined sources1
Isoform 16 (identifier: P11532-9)
Modified residuei519PhosphothreonineCombined sources1
Isoform 14 (identifier: P11532-6)
Modified residuei629PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P11532

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P11532

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P11532

MaxQB - The MaxQuant DataBase

More...MaxQBi		P11532

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P11532

PeptideAtlas

More...PeptideAtlasi		P11532

PRoteomics IDEntifications database

More...PRIDEi		P11532

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		17631
17635
17951
19709
19712
25166
29059
52788 [P11532-1]
52789 [P11532-2]
52790 [P11532-3]
52791 [P11532-4]
52792 [P11532-5]
52793 [P11532-6]

PTM databases

CarbonylDB database of protein carbonylation sites

More...CarbonylDBi		P11532

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P11532, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P11532

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P11532

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P11532

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in muscle fibers accumulating in the costameres of myoplasm at the sarcolemma. Expressed in brain, muscle, kidney, lung and testis. Most tissues contain transcripts of multiple isoforms. Isoform 15: Only isoform to be detected in heart and liver and is also expressed in brain, testis and hepatoma cells.3 Publications

<p>This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Isoform 15: Expressed in embryonic neural tissue from the sixth week of development. Isoform 16: Detected in all embryonic tissues examined.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000198947, Expressed in trigeminal ganglion and 248 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P11532, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P11532, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000198947, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with SYNM (By similarity).

Interacts with the syntrophins SNTA1, SNTB1, SNTB2, SNTG1 and SNTG2 (PubMed:7844150, PubMed:8576247).

Interacts with KRT19 (PubMed:16000376).

Component of the dystrophin-associated glycoprotein complex which is composed of three subcomplexes: a cytoplasmic complex comprised of DMD (or UTRN), DTNA and a number of syntrophins, such as SNTB1, SNTB2, SNTG1 and SNTG2, the transmembrane dystroglycan complex, and the sarcoglycan-sarcospan complex.

Interacts with DAG1 (betaDAG1) with DMD; the interaction is inhibited by phosphorylation on the PPXY motif of DAG1 (PubMed:7592992, PubMed:11495720, PubMed:10932245).

Interacts with CMYA5 (By similarity). Directly interacts with ANK2 and ANK3; these interactions do not interfere with betaDAG1-binding and are necessary for proper localization in muscle cells (By similarity).

Identified in a dystroglycan complex that contains at least PRX, DRP2, UTRN, DMD and DAG1 (By similarity).

Interacts with DTNB (By similarity).

By similarity6 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		108096, 82 interactors

Database of interacting proteins

More...DIPi		DIP-32593N

Protein interaction database and analysis system

More...IntActi		P11532, 56 interactors

Molecular INTeraction database

More...MINTi		P11532

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000354923

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P11532, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

13685
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Small Angle Scattering Biological Data Bank

More...SASBDBi		P11532

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P11532

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P11532

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini15 – 119Calponin-homology (CH) 1PROSITE-ProRule annotationAdd BLAST105
Domaini134 – 240Calponin-homology (CH) 2PROSITE-ProRule annotationAdd BLAST107
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati339 – 447Spectrin 1Add BLAST109
Repeati448 – 556Spectrin 2Add BLAST109
Repeati559 – 667Spectrin 3Add BLAST109
Repeati719 – 828Spectrin 4Add BLAST110
Repeati830 – 934Spectrin 5Add BLAST105
Repeati943 – 1045Spectrin 6Add BLAST103
Repeati1048 – 1154Spectrin 7Add BLAST107
Repeati1157 – 1263Spectrin 8Add BLAST107
Repeati1266 – 1367Spectrin 9Add BLAST102
Repeati1368 – 1463Spectrin 10Add BLAST96
Repeati1468 – 1568Spectrin 11Add BLAST101
Repeati1571 – 1676Spectrin 12Add BLAST106
Repeati1679 – 1778Spectrin 13Add BLAST100
Repeati1779 – 1874Spectrin 14Add BLAST96
Repeati1877 – 1979Spectrin 15Add BLAST103
Repeati1992 – 2101Spectrin 16Add BLAST110
Repeati2104 – 2208Spectrin 17Add BLAST105
Repeati2211 – 2318Spectrin 18Add BLAST108
Repeati2319 – 2423Spectrin 19Add BLAST105
Repeati2475 – 2577Spectrin 20Add BLAST103
Repeati2580 – 2686Spectrin 21Add BLAST107
Repeati2689 – 2802Spectrin 22Add BLAST114
Repeati2808 – 2930Spectrin 23Add BLAST123
Repeati2935 – 3040Spectrin 24Add BLAST106
Domaini3055 – 3088WWPROSITE-ProRule annotationAdd BLAST34

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 240Actin-bindingAdd BLAST240
Regioni63 – 72ANK2- and ANK-3 bindingBy similarity10
Regioni1415 – 1913Interaction with SYNMBy similarityAdd BLAST499
Regioni3058 – 3408Interaction with SYNMBy similarityAdd BLAST351
Regioni3466 – 3518Binds to SNTB1Add BLAST53
Regioni3528 – 3554DisorderedSequence analysisAdd BLAST27
Regioni3603 – 3685DisorderedSequence analysisAdd BLAST83

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi3603 – 3673Polar residuesSequence analysisAdd BLAST71

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri3308 – 3364ZZ-type; degeneratePROSITE-ProRule annotationAdd BLAST57

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4286, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154342

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_001187_1_2_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P11532

Database of Orthologous Groups

More...OrthoDBi		924518at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P11532

TreeFam database of animal gene trees

More...TreeFami		TF320178

Family and domain databases

Conserved Domains Database

More...CDDi		cd00014, CH, 2 hits
cd00201, WW, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.418.10, 2 hits
3.30.60.90, 1 hit

Intrinsically Disordered proteins with Extensive Annotations and Literature

More...IDEALi		IID00267

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR001589, Actinin_actin-bd_CS
IPR001715, CH-domain
IPR036872, CH_dom_sf
IPR035436, Dystrophin/utrophin
IPR011992, EF-hand-dom_pair
IPR015153, EF-hand_dom_typ1
IPR015154, EF-hand_dom_typ2
IPR018159, Spectrin/alpha-actinin
IPR002017, Spectrin_repeat
IPR001202, WW_dom
IPR036020, WW_dom_sf
IPR000433, Znf_ZZ
IPR043145, Znf_ZZ_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00307, CH, 2 hits
PF09068, EF-hand_2, 1 hit
PF09069, EF-hand_3, 1 hit
PF00435, Spectrin, 17 hits
PF00397, WW, 1 hit
PF00569, ZZ, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF002341, Dystrophin/utrophin, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00033, CH, 2 hits
SM00150, SPEC, 22 hits
SM00456, WW, 1 hit
SM00291, ZnF_ZZ, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47473, SSF47473, 2 hits
SSF47576, SSF47576, 1 hit
SSF51045, SSF51045, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00019, ACTININ_1, 1 hit
PS00020, ACTININ_2, 1 hit
PS50021, CH, 2 hits
PS01159, WW_DOMAIN_1, 1 hit
PS50020, WW_DOMAIN_2, 1 hit
PS01357, ZF_ZZ_1, 1 hit
PS50135, ZF_ZZ_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (17+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 17 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative promoter usage and alternative splicing. AlignAdd to basket

This entry has 17 described isoforms and 36 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P11532-1) [UniParc]FASTAAdd to basket
Also known as: Dystrophin-4, Dp427m

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLWWEEVEDC YEREDVQKKT FTKWVNAQFS KFGKQHIENL FSDLQDGRRL 
        60         70         80         90        100
LDLLEGLTGQ KLPKEKGSTR VHALNNVNKA LRVLQNNNVD LVNIGSTDIV 
       110        120        130        140        150
DGNHKLTLGL IWNIILHWQV KNVMKNIMAG LQQTNSEKIL LSWVRQSTRN 
       160        170        180        190        200
YPQVNVINFT TSWSDGLALN ALIHSHRPDL FDWNSVVCQQ SATQRLEHAF 
       210        220        230        240        250
NIARYQLGIE KLLDPEDVDT TYPDKKSILM YITSLFQVLP QQVSIEAIQE 
       260        270        280        290        300
VEMLPRPPKV TKEEHFQLHH QMHYSQQITV SLAQGYERTS SPKPRFKSYA 
       310        320        330        340        350
YTQAAYVTTS DPTRSPFPSQ HLEAPEDKSF GSSLMESEVN LDRYQTALEE 
       360        370        380        390        400
VLSWLLSAED TLQAQGEISN DVEVVKDQFH THEGYMMDLT AHQGRVGNIL 
       410        420        430        440        450
QLGSKLIGTG KLSEDEETEV QEQMNLLNSR WECLRVASME KQSNLHRVLM 
       460        470        480        490        500
DLQNQKLKEL NDWLTKTEER TRKMEEEPLG PDLEDLKRQV QQHKVLQEDL 
       510        520        530        540        550
EQEQVRVNSL THMVVVVDES SGDHATAALE EQLKVLGDRW ANICRWTEDR 
       560        570        580        590        600
WVLLQDILLK WQRLTEEQCL FSAWLSEKED AVNKIHTTGF KDQNEMLSSL 
       610        620        630        640        650
QKLAVLKADL EKKKQSMGKL YSLKQDLLST LKNKSVTQKT EAWLDNFARC 
       660        670        680        690        700
WDNLVQKLEK STAQISQAVT TTQPSLTQTT VMETVTTVTT REQILVKHAQ 
       710        720        730        740        750
EELPPPPPQK KRQITVDSEI RKRLDVDITE LHSWITRSEA VLQSPEFAIF 
       760        770        780        790        800
RKEGNFSDLK EKVNAIEREK AEKFRKLQDA SRSAQALVEQ MVNEGVNADS 
       810        820        830        840        850
IKQASEQLNS RWIEFCQLLS ERLNWLEYQN NIIAFYNQLQ QLEQMTTTAE 
       860        870        880        890        900
NWLKIQPTTP SEPTAIKSQL KICKDEVNRL SDLQPQIERL KIQSIALKEK 
       910        920        930        940        950
GQGPMFLDAD FVAFTNHFKQ VFSDVQAREK ELQTIFDTLP PMRYQETMSA 
       960        970        980        990       1000
IRTWVQQSET KLSIPQLSVT DYEIMEQRLG ELQALQSSLQ EQQSGLYYLS 
      1010       1020       1030       1040       1050
TTVKEMSKKA PSEISRKYQS EFEEIEGRWK KLSSQLVEHC QKLEEQMNKL 
      1060       1070       1080       1090       1100
RKIQNHIQTL KKWMAEVDVF LKEEWPALGD SEILKKQLKQ CRLLVSDIQT 
      1110       1120       1130       1140       1150
IQPSLNSVNE GGQKIKNEAE PEFASRLETE LKELNTQWDH MCQQVYARKE 
      1160       1170       1180       1190       1200
ALKGGLEKTV SLQKDLSEMH EWMTQAEEEY LERDFEYKTP DELQKAVEEM 
      1210       1220       1230       1240       1250
KRAKEEAQQK EAKVKLLTES VNSVIAQAPP VAQEALKKEL ETLTTNYQWL 
      1260       1270       1280       1290       1300
CTRLNGKCKT LEEVWACWHE LLSYLEKANK WLNEVEFKLK TTENIPGGAE 
      1310       1320       1330       1340       1350
EISEVLDSLE NLMRHSEDNP NQIRILAQTL TDGGVMDELI NEELETFNSR 
      1360       1370       1380       1390       1400
WRELHEEAVR RQKLLEQSIQ SAQETEKSLH LIQESLTFID KQLAAYIADK 
      1410       1420       1430       1440       1450
VDAAQMPQEA QKIQSDLTSH EISLEEMKKH NQGKEAAQRV LSQIDVAQKK 
      1460       1470       1480       1490       1500
LQDVSMKFRL FQKPANFEQR LQESKMILDE VKMHLPALET KSVEQEVVQS 
      1510       1520       1530       1540       1550
QLNHCVNLYK SLSEVKSEVE MVIKTGRQIV QKKQTENPKE LDERVTALKL 
      1560       1570       1580       1590       1600
HYNELGAKVT ERKQQLEKCL KLSRKMRKEM NVLTEWLAAT DMELTKRSAV 
      1610       1620       1630       1640       1650
EGMPSNLDSE VAWGKATQKE IEKQKVHLKS ITEVGEALKT VLGKKETLVE 
      1660       1670       1680       1690       1700
DKLSLLNSNW IAVTSRAEEW LNLLLEYQKH METFDQNVDH ITKWIIQADT 
      1710       1720       1730       1740       1750
LLDESEKKKP QQKEDVLKRL KAELNDIRPK VDSTRDQAAN LMANRGDHCR 
      1760       1770       1780       1790       1800
KLVEPQISEL NHRFAAISHR IKTGKASIPL KELEQFNSDI QKLLEPLEAE 
      1810       1820       1830       1840       1850
IQQGVNLKEE DFNKDMNEDN EGTVKELLQR GDNLQQRITD ERKREEIKIK 
      1860       1870       1880       1890       1900
QQLLQTKHNA LKDLRSQRRK KALEISHQWY QYKRQADDLL KCLDDIEKKL 
      1910       1920       1930       1940       1950
ASLPEPRDER KIKEIDRELQ KKKEELNAVR RQAEGLSEDG AAMAVEPTQI 
      1960       1970       1980       1990       2000
QLSKRWREIE SKFAQFRRLN FAQIHTVREE TMMVMTEDMP LEISYVPSTY 
      2010       2020       2030       2040       2050
LTEITHVSQA LLEVEQLLNA PDLCAKDFED LFKQEESLKN IKDSLQQSSG 
      2060       2070       2080       2090       2100
RIDIIHSKKT AALQSATPVE RVKLQEALSQ LDFQWEKVNK MYKDRQGRFD 
      2110       2120       2130       2140       2150
RSVEKWRRFH YDIKIFNQWL TEAEQFLRKT QIPENWEHAK YKWYLKELQD 
      2160       2170       2180       2190       2200
GIGQRQTVVR TLNATGEEII QQSSKTDASI LQEKLGSLNL RWQEVCKQLS 
      2210       2220       2230       2240       2250
DRKKRLEEQK NILSEFQRDL NEFVLWLEEA DNIASIPLEP GKEQQLKEKL 
      2260       2270       2280       2290       2300
EQVKLLVEEL PLRQGILKQL NETGGPVLVS APISPEEQDK LENKLKQTNL 
      2310       2320       2330       2340       2350
QWIKVSRALP EKQGEIEAQI KDLGQLEKKL EDLEEQLNHL LLWLSPIRNQ 
      2360       2370       2380       2390       2400
LEIYNQPNQE GPFDVKETEI AVQAKQPDVE EILSKGQHLY KEKPATQPVK 
      2410       2420       2430       2440       2450
RKLEDLSSEW KAVNRLLQEL RAKQPDLAPG LTTIGASPTQ TVTLVTQPVV 
      2460       2470       2480       2490       2500
TKETAISKLE MPSSLMLEVP ALADFNRAWT ELTDWLSLLD QVIKSQRVMV 
      2510       2520       2530       2540       2550
GDLEDINEMI IKQKATMQDL EQRRPQLEEL ITAAQNLKNK TSNQEARTII 
      2560       2570       2580       2590       2600
TDRIERIQNQ WDEVQEHLQN RRQQLNEMLK DSTQWLEAKE EAEQVLGQAR 
      2610       2620       2630       2640       2650
AKLESWKEGP YTVDAIQKKI TETKQLAKDL RQWQTNVDVA NDLALKLLRD 
      2660       2670       2680       2690       2700
YSADDTRKVH MITENINASW RSIHKRVSER EAALEETHRL LQQFPLDLEK 
      2710       2720       2730       2740       2750
FLAWLTEAET TANVLQDATR KERLLEDSKG VKELMKQWQD LQGEIEAHTD 
      2760       2770       2780       2790       2800
VYHNLDENSQ KILRSLEGSD DAVLLQRRLD NMNFKWSELR KKSLNIRSHL 
      2810       2820       2830       2840       2850
EASSDQWKRL HLSLQELLVW LQLKDDELSR QAPIGGDFPA VQKQNDVHRA 
      2860       2870       2880       2890       2900
FKRELKTKEP VIMSTLETVR IFLTEQPLEG LEKLYQEPRE LPPEERAQNV 
      2910       2920       2930       2940       2950
TRLLRKQAEE VNTEWEKLNL HSADWQRKID ETLERLQELQ EATDELDLKL 
      2960       2970       2980       2990       3000
RQAEVIKGSW QPVGDLLIDS LQDHLEKVKA LRGEIAPLKE NVSHVNDLAR 
      3010       3020       3030       3040       3050
QLTTLGIQLS PYNLSTLEDL NTRWKLLQVA VEDRVRQLHE AHRDFGPASQ 
      3060       3070       3080       3090       3100
HFLSTSVQGP WERAISPNKV PYYINHETQT TCWDHPKMTE LYQSLADLNN 
      3110       3120       3130       3140       3150
VRFSAYRTAM KLRRLQKALC LDLLSLSAAC DALDQHNLKQ NDQPMDILQI 
      3160       3170       3180       3190       3200
INCLTTIYDR LEQEHNNLVN VPLCVDMCLN WLLNVYDTGR TGRIRVLSFK 
      3210       3220       3230       3240       3250
TGIISLCKAH LEDKYRYLFK QVASSTGFCD QRRLGLLLHD SIQIPRQLGE 
      3260       3270       3280       3290       3300
VASFGGSNIE PSVRSCFQFA NNKPEIEAAL FLDWMRLEPQ SMVWLPVLHR 
      3310       3320       3330       3340       3350
VAAAETAKHQ AKCNICKECP IIGFRYRSLK HFNYDICQSC FFSGRVAKGH 
      3360       3370       3380       3390       3400
KMHYPMVEYC TPTTSGEDVR DFAKVLKNKF RTKRYFAKHP RMGYLPVQTV 
      3410       3420       3430       3440       3450
LEGDNMETPV TLINFWPVDS APASSPQLSH DDTHSRIEHY ASRLAEMENS 
      3460       3470       3480       3490       3500
NGSYLNDSIS PNESIDDEHL LIQHYCQSLN QDSPLSQPRS PAQILISLES 
      3510       3520       3530       3540       3550
EERGELERIL ADLEEENRNL QAEYDRLKQQ HEHKGLSPLP SPPEMMPTSP 
      3560       3570       3580       3590       3600
QSPRDAELIA EAKLLRQHKG RLEARMQILE DHNKQLESQL HRLRQLLEQP 
      3610       3620       3630       3640       3650
QAEAKVNGTT VSSPSTSLQR SDSSQPMLLR VVGSQTSDSM GEEDLLSPPQ 
      3660       3670       3680 
DTSTGLEEVM EQLNNSFPSS RGRNTPGKPM REDTM
Note: Produced by alternative promoter usage.
Length:3,685
Mass (Da):426,750
Last modified:November 30, 2010 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i24FF7E83F1E6BF8D
GO
Isoform 2 (identifier: P11532-4) [UniParc]FASTAAdd to basket
Also known as: Dystrophin-3, Dp427c

The sequence of this isoform differs from the canonical sequence as follows:
     1-11: MLWWEEVEDCY → MED

Note: Produced by alternative promoter usage.Curated
Show »
Length:3,677
Mass (Da):425,640
Checksum:i234A6D63F4910420
GO
Isoform 3 (identifier: P11532-11) [UniParc]FASTAAdd to basket
Also known as: Dp427p

The sequence of this isoform differs from the canonical sequence as follows:
     1-11: MLWWEEVEDCY → MSEVSSD

Note: Produced by alternative promoter usage.Curated
Show »
Length:3,681
Mass (Da):426,001
Checksum:iD908182A29326D4F
GO
Isoform 4 (identifier: P11532-2) [UniParc]FASTAAdd to basket
Also known as: Dystrophin-1, Dp260-1

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MTEIILLIFFPAYFLN
     2-1357: Missing.

Note: Produced by alternative promoter usage.Curated
Show »
Length:2,344
Mass (Da):271,391
Checksum:i50AF557D10DD0B23
GO
Isoform 5 (identifier: P11532-3) [UniParc]FASTAAdd to basket
Also known as: Dystrophin-2, Dp260-2

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MSARKLRNLSYKK
     2-1357: Missing.

Note: Produced by alternative splicing of isoform 4.Curated
Show »
Length:2,341
Mass (Da):271,040
Checksum:i5A695D20AE07D801
GO
Isoform 6 (identifier: P11532-12) [UniParc]FASTAAdd to basket
Also known as: Dp140

The sequence of this isoform differs from the canonical sequence as follows:
     1-2460: Missing.

Note: Produced by alternative promoter usage.Curated
Show »
Length:1,225
Mass (Da):141,371
Checksum:i61F93506F4E51194
GO
Isoform 7 (identifier: P11532-13) [UniParc]FASTAAdd to basket
Also known as: Dp140c

The sequence of this isoform differs from the canonical sequence as follows:
     1-2460: Missing.
     3409-3518: Missing.

Note: Produced by alternative splicing of isoform 6.Curated
Show »
Length:1,115
Mass (Da):128,950
Checksum:i0954BC0B06F33E34
GO
Isoform 8 (identifier: P11532-14) [UniParc]FASTAAdd to basket
Also known as: Dp140b

The sequence of this isoform differs from the canonical sequence as follows:
     1-2460: Missing.
     3673-3685: RNTPGKPMREDTM → HNVGSLFHMADDLGRAMESLVSVMTDEEGAE

Note: Produced by alternative splicing of isoform 6.Curated
Show »
Length:1,243
Mass (Da):143,187
Checksum:i5CF301BCA476E93F
GO
Isoform 9 (identifier: P11532-15) [UniParc]FASTAAdd to basket
Also known as: Dp140ab

The sequence of this isoform differs from the canonical sequence as follows:
     1-2460: Missing.
     3409-3421: Missing.
     3673-3685: RNTPGKPMREDTM → HNVGSLFHMADDLGRAMESLVSVMTDEEGAE

Note: Produced by alternative splicing of isoform 6.Curated
Show »
Length:1,230
Mass (Da):141,746
Checksum:iB3897BCD1E885E23
GO
Isoform 10 (identifier: P11532-16) [UniParc]FASTAAdd to basket
Also known as: Dp140bc

The sequence of this isoform differs from the canonical sequence as follows:
     1-2460: Missing.
     3409-3518: Missing.
     3673-3685: RNTPGKPMREDTM → HNVGSLFHMADDLGRAMESLVSVMTDEEGAE

Note: Produced by alternative splicing of isoform 6.Curated
Show »
Length:1,133
Mass (Da):130,765
Checksum:iD0B074F054955D96
GO
Isoform 11 (identifier: P11532-17) [UniParc]FASTAAdd to basket
Also known as: Dp116

The sequence of this isoform differs from the canonical sequence as follows:
     1-2729: Missing.
     2730-2739: GVKELMKQWQ → MLHRKTYHVK

Note: Produced by alternative promoter usage.Curated
Show »
Length:956
Mass (Da):109,942
Checksum:iD3878B8D775380F9
GO
Isoform 12 (identifier: P11532-7) [UniParc]FASTAAdd to basket
Also known as: Dp71

The sequence of this isoform differs from the canonical sequence as follows:
     1-3068: Missing.
     3069-3075: KVPYYIN → MREQLKG

Note: Produced by alternative promoter usage.Curated
Show »
Length:617
Mass (Da):70,375
Checksum:i660C9D904AF403B9
GO
Isoform 13 (identifier: P11532-8) [UniParc]FASTAAdd to basket
Also known as: Dp71a

The sequence of this isoform differs from the canonical sequence as follows:
     1-3068: Missing.
     3069-3075: KVPYYIN → MREQLKG
     3409-3421: Missing.

Note: Produced by alternative splicing of isoform 12.Curated
Show »
Length:604
Mass (Da):68,934
Checksum:i08BDA0A428FAA9F4
GO
Isoform 14 (identifier: P11532-6) [UniParc]FASTAAdd to basket
Also known as: Dp71b

The sequence of this isoform differs from the canonical sequence as follows:
     1-3068: Missing.
     3069-3075: KVPYYIN → MREQLKG
     3673-3685: RNTPGKPMREDTM → HNVGSLFHMADDLGRAMESLVSVMTDEEGAE

Note: Produced by alternative splicing of isoform 12.Curated
Show »
Length:635
Mass (Da):72,191
Checksum:i5EB1E49C45CF34EC
GO
Isoform 15 (identifier: P11532-5) [UniParc]FASTAAdd to basket
Also known as: Dp71ab

The sequence of this isoform differs from the canonical sequence as follows:
     1-3068: Missing.
     3069-3075: KVPYYIN → MREQLKG
     3409-3421: Missing.
     3673-3685: RNTPGKPMREDTM → HNVGSLFHMADDLGRAMESLVSVMTDEEGAE

Note: Produced by alternative splicing of isoform 12.Curated
Show »
Length:622
Mass (Da):70,750
Checksum:i75D44165427FAB8B
GO
Isoform 16 (identifier: P11532-9) [UniParc]FASTAAdd to basket
Also known as: Dp60, Dp71delta110

The sequence of this isoform differs from the canonical sequence as follows:
     1-3068: Missing.
     3069-3075: KVPYYIN → MREQLKG
     3409-3518: Missing.
     3673-3685: RNTPGKPMREDTM → HNVGSLFHMADDLGRAMESLVSVMTDEEGAE

Note: Produced by alternative splicing of isoform 12.Curated
Show »
Length:525
Mass (Da):59,769
Checksum:iD597517BCE4D9FD1
GO
Isoform 17 (identifier: P11532-18) [UniParc]FASTAAdd to basket
Also known as: Dp40

The sequence of this isoform differs from the canonical sequence as follows:
     1-3068: Missing.
     3069-3075: KVPYYIN → MREQLKG
     3409-3685: Missing.

Note: Produced by alternative splicing of isoform 12.Curated
Show »
Length:340
Mass (Da):39,254
Checksum:i3A270A04A97B8BC9
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 36 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A075B6G3A0A075B6G3_HUMAN
Dystrophin
DMD
3,685Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A5H1ZRP8A0A5H1ZRP8_HUMAN
Dystrophin
DMD
3,681Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WV90A0A087WV90_HUMAN
Dystrophin
DMD
2,341Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WTU7A0A087WTU7_HUMAN
Dystrophin
DMD
1,154Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A5H1ZRQ1A0A5H1ZRQ1_HUMAN
Dystrophin
DMD
1,225Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A5H1ZRP7A0A5H1ZRP7_HUMAN
Dystrophin
DMD
970Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A5H1ZRR9A0A5H1ZRR9_HUMAN
Dystrophin
DMD
1,115Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y304H0Y304_HUMAN
Dystrophin
DMD
1,386Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A5H1ZRP9A0A5H1ZRP9_HUMAN
Dystrophin
DMD
1,230Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A5H1ZRQ8A0A5H1ZRQ8_HUMAN
Dystrophin
DMD
1,243Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti664Q → QM in CAA29544 (PubMed:3428261).Curated1
Sequence conflicti2361G → E in CAA38589 (Ref. 13) Curated1
Sequence conflicti3542P → T in AAH70078 (PubMed:15489334).Curated1
Sequence conflicti3546M → V in AAH70078 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02353718K → N in CMD3B; decreased thermodynamic stability; accelerated unfolding, perturbed protein structure; no effect on anchoring function. 2 Publications1
Natural variantiVAR_00514632 – 62Missing in BMD. Add BLAST31
Natural variantiVAR_00514754L → R in DMD. 1 Publication1
Natural variantiVAR_065764118W → R in a patient with Becker muscular dystrophy. 1 Publication1
Natural variantiVAR_005148133Q → P1 PublicationCorresponds to variant dbSNP:rs1800256Ensembl.1
Natural variantiVAR_023538165D → V in one patient with Becker muscular dystrophy. 1 Publication1
Natural variantiVAR_005149168A → D in BMD. 1
Natural variantiVAR_023539171A → P in BMD. 1 Publication1
Natural variantiVAR_005150231Y → N in BMD. 1
Natural variantiVAR_023540279T → A in CMD3B. 1 Publication1
Natural variantiVAR_036353334L → F in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_005151365Q → H1 PublicationCorresponds to variant dbSNP:rs1800266EnsemblClinVar.1
Natural variantiVAR_057642409T → S. Corresponds to variant dbSNP:rs34155804EnsemblClinVar.1
Natural variantiVAR_005152495 – 534Missing in BMD. Add BLAST40
Natural variantiVAR_057643573A → V. Corresponds to variant dbSNP:rs5972599EnsemblClinVar.1
Natural variantiVAR_005153623L → I1 PublicationCorresponds to variant dbSNP:rs1800259Ensembl.1
Natural variantiVAR_023541645D → G in DMD. 1 Publication1
Natural variantiVAR_062110666S → L. Corresponds to variant dbSNP:rs34563188EnsemblClinVar.1
Natural variantiVAR_057644715T → S. Corresponds to variant dbSNP:rs16998350EnsemblClinVar.1
Natural variantiVAR_005154773K → E in DMD. 1
Natural variantiVAR_005155784A → G1 PublicationCorresponds to variant dbSNP:rs1800260Ensembl.1
Natural variantiVAR_005156882D → G3 PublicationsCorresponds to variant dbSNP:rs228406EnsemblClinVar.1
Natural variantiVAR_0576451136T → S. Corresponds to variant dbSNP:rs3827462EnsemblClinVar.1
Natural variantiVAR_0051571197V → F1 PublicationCorresponds to variant dbSNP:rs1800262Ensembl.1
Natural variantiVAR_0363541219E → Q in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0051581245T → I. Corresponds to variant dbSNP:rs1800269EnsemblClinVar.1
Natural variantiVAR_0051591278A → P. Corresponds to variant dbSNP:rs1800270Ensembl.1
Natural variantiVAR_0051601377K → N1 PublicationCorresponds to variant dbSNP:rs1800263Ensembl.1
Natural variantiVAR_0576461388F → V. Corresponds to variant dbSNP:rs28715870EnsemblClinVar.1
Natural variantiVAR_0051611469Q → L1 PublicationCorresponds to variant dbSNP:rs1057872Ensembl.1
Natural variantiVAR_0363551470R → H in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0235421672N → K1 PublicationCorresponds to variant dbSNP:rs16990264EnsemblClinVar.1
Natural variantiVAR_0051621745R → H1 PublicationCorresponds to variant dbSNP:rs1801187EnsemblClinVar.1
Natural variantiVAR_0051631844R → S1 PublicationCorresponds to variant dbSNP:rs1801186Ensembl.1
Natural variantiVAR_0576472108R → C. Corresponds to variant dbSNP:rs16990169EnsemblClinVar.1
Natural variantiVAR_0051642155R → W1 PublicationCorresponds to variant dbSNP:rs1800273EnsemblClinVar.1
Natural variantiVAR_0363562164A → V in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0051652191R → W1 Publication1
Natural variantiVAR_0235432299N → T1 Publication1
Natural variantiVAR_0051662305 – 2366Missing in DMD. Add BLAST62
Natural variantiVAR_0051672366K → Q2 PublicationsCorresponds to variant dbSNP:rs1800275EnsemblClinVar.1
Natural variantiVAR_0051682910E → V1 PublicationCorresponds to variant dbSNP:rs41305353EnsemblClinVar.1
Natural variantiVAR_0051692912N → D1 PublicationCorresponds to variant dbSNP:rs1800278EnsemblClinVar.1
Natural variantiVAR_0051702921H → R in BMD. Corresponds to variant dbSNP:rs1800279EnsemblClinVar.1
Natural variantiVAR_0051712937Q → R3 PublicationsCorresponds to variant dbSNP:rs1800280Ensembl.1
Natural variantiVAR_0235443228F → L in CMD3B. 1 Publication1
Natural variantiVAR_0235453313C → F in DMD; results in highly reduced protein levels and expression at the sarcolemma. 2 Publications1
Natural variantiVAR_0235463335D → H in DMD; does not affect protein stability; does not affect protein expression at the sarcolemma; interaction with DAG1 is reduced. 2 Publications1
Natural variantiVAR_0235473340C → Y in DMD; results in highly reduced protein levels and expression at the sarcolemma. 2 Publications1
Natural variantiVAR_0051723421A → V in BMD. 1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0174901 – 3068Missing in isoform 12, isoform 13, isoform 14, isoform 15, isoform 16 and isoform 17. 3 PublicationsAdd BLAST3068
Alternative sequenceiVSP_0602761 – 2729Missing in isoform 11. Add BLAST2729
Alternative sequenceiVSP_0602751 – 2460Missing in isoform 6, isoform 7, isoform 8, isoform 9 and isoform 10. Add BLAST2460
Alternative sequenceiVSP_0068091 – 11MLWWEEVEDCY → MED in isoform 2. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_0602741 – 11MLWWEEVEDCY → MSEVSSD in isoform 3. Add BLAST11
Alternative sequenceiVSP_0068061M → MTEIILLIFFPAYFLN in isoform 4. 1
Alternative sequenceiVSP_0068081M → MSARKLRNLSYKK in isoform 5. Curated1
Alternative sequenceiVSP_0068072 – 1357Missing in isoform 4 and isoform 5. Add BLAST1356
Alternative sequenceiVSP_0602772730 – 2739GVKELMKQWQ → MLHRKTYHVK in isoform 11. 10
Alternative sequenceiVSP_0174913069 – 3075KVPYYIN → MREQLKG in isoform 12, isoform 13, isoform 14, isoform 15, isoform 16 and isoform 17. 3 Publications7
Alternative sequenceiVSP_0602783409 – 3685Missing in isoform 17. Add BLAST277
Alternative sequenceiVSP_0463193409 – 3518Missing in isoform 7, isoform 10 and isoform 16. Add BLAST110
Alternative sequenceiVSP_0174923409 – 3421Missing in isoform 9, isoform 13 and isoform 15. 3 PublicationsAdd BLAST13
Alternative sequenceiVSP_0174933673 – 3685RNTPG…REDTM → HNVGSLFHMADDLGRAMESL VSVMTDEEGAE in isoform 8, isoform 9, isoform 10, isoform 14, isoform 15 and isoform 16. 3 PublicationsAdd BLAST13

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
M18533 mRNA Translation: AAA53189.1
X14298 mRNA Translation: CAA32479.1
M92650 mRNA Translation: AAA52316.1
AC078957 Genomic DNA No translation available.
AL031542 AL451144 Genomic DNA Translation: CAI42229.1
AL031643 AL451144 Genomic DNA Translation: CAI43058.1
AL049643 Genomic DNA No translation available.
AL050305 Genomic DNA No translation available.
AL096699 AL451144 Genomic DNA Translation: CAI42225.1
AL109609 AL451144 Genomic DNA Translation: CAI42950.1
AL121880 Genomic DNA No translation available.
AL139278 AL451144 Genomic DNA Translation: CAI42991.1
AL139401 Genomic DNA No translation available.
AL451144 AL139278 Genomic DNA Translation: CAI39566.1
AL596023 Genomic DNA No translation available.
CH471074 Genomic DNA Translation: EAW99065.1
BC028720 mRNA Translation: AAH28720.1
BC070078 mRNA Translation: AAH70078.1
BC094758 mRNA Translation: AAH94758.1
BC127103 mRNA Translation: AAI27104.2
U27203 Genomic DNA Translation: AAA86115.1
U27203 Genomic DNA Translation: AAA86116.1
X15148 mRNA Translation: CAA33245.1
X06178 mRNA Translation: CAA29544.1
X06179 mRNA Translation: CAA29545.1
X13045 Genomic DNA Translation: CAA31451.1
X13046 Genomic DNA Translation: CAA31452.1
X13047 Genomic DNA Translation: CAA31453.1
X13048 Genomic DNA Translation: CAA31454.1
X15495 Genomic DNA Translation: CAA33518.1
X54820 Genomic DNA Translation: CAA38589.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS14231.1 [P11532-6]
CCDS14232.1 [P11532-5]
CCDS14233.1 [P11532-1]
CCDS14234.1 [P11532-7]
CCDS48091.1 [P11532-12]
CCDS55394.1 [P11532-13]
CCDS55395.1 [P11532-11]
CCDS75965.1 [P11532-17]

Protein sequence database of the Protein Information Resource

More...PIRi		A45255

NCBI Reference Sequences

More...RefSeqi		NP_000100.2, NM_000109.3
NP_003997.1, NM_004006.2
NP_004000.1, NM_004009.3
NP_004001.1, NM_004010.3
NP_004002.2, NM_004011.3
NP_004003.1, NM_004012.3
NP_004004.1, NM_004013.2 [P11532-12]
NP_004005.1, NM_004014.2 [P11532-17]
NP_004006.1, NM_004015.2 [P11532-7]
NP_004007.1, NM_004016.2 [P11532-6]
NP_004008.1, NM_004017.2 [P11532-8]
NP_004009.1, NM_004018.2 [P11532-5]
NP_004010.1, NM_004019.2 [P11532-18]
NP_004011.2, NM_004020.3 [P11532-13]
NP_004012.1, NM_004021.2
NP_004013.1, NM_004022.2 [P11532-15]
NP_004014.1, NM_004023.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000361471; ENSP00000354464; ENSG00000198947 [P11532-5]
ENST00000378680; ENSP00000367951; ENSG00000198947 [P11532-9]
ENST00000378702; ENSP00000367974; ENSG00000198947 [P11532-7]
ENST00000378723; ENSP00000367997; ENSG00000198947 [P11532-6]
ENST00000682600; ENSP00000507640; ENSG00000198947 [P11532-8]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1756

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1756

UCSC genome browser

More...UCSCi		uc004dcm.2, human [P11532-1]
uc004dcq.1, human
uc004dcr.1, human
uc004dct.1, human
uc004dcu.2, human
uc004dcv.1, human
uc004dcy.2, human

Keywords - Coding sequence diversityi

Alternative promoter usage, Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

DMD

Dystrophin Mutation Database

SHMPD

The Singapore human mutation and polymorphism database

Wikipedia

Dystrophin entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M18533 mRNA Translation: AAA53189.1
X14298 mRNA Translation: CAA32479.1
M92650 mRNA Translation: AAA52316.1
AC078957 Genomic DNA No translation available.
AL031542 AL451144 Genomic DNA Translation: CAI42229.1
AL031643 AL451144 Genomic DNA Translation: CAI43058.1
AL049643 Genomic DNA No translation available.
AL050305 Genomic DNA No translation available.
AL096699 AL451144 Genomic DNA Translation: CAI42225.1
AL109609 AL451144 Genomic DNA Translation: CAI42950.1
AL121880 Genomic DNA No translation available.
AL139278 AL451144 Genomic DNA Translation: CAI42991.1
AL139401 Genomic DNA No translation available.
AL451144 AL139278 Genomic DNA Translation: CAI39566.1
AL596023 Genomic DNA No translation available.
CH471074 Genomic DNA Translation: EAW99065.1
BC028720 mRNA Translation: AAH28720.1
BC070078 mRNA Translation: AAH70078.1
BC094758 mRNA Translation: AAH94758.1
BC127103 mRNA Translation: AAI27104.2
U27203 Genomic DNA Translation: AAA86115.1
U27203 Genomic DNA Translation: AAA86116.1
X15148 mRNA Translation: CAA33245.1
X06178 mRNA Translation: CAA29544.1
X06179 mRNA Translation: CAA29545.1
X13045 Genomic DNA Translation: CAA31451.1
X13046 Genomic DNA Translation: CAA31452.1
X13047 Genomic DNA Translation: CAA31453.1
X13048 Genomic DNA Translation: CAA31454.1
X15495 Genomic DNA Translation: CAA33518.1
X54820 Genomic DNA Translation: CAA38589.1
CCDSiCCDS14231.1 [P11532-6]
CCDS14232.1 [P11532-5]
CCDS14233.1 [P11532-1]
CCDS14234.1 [P11532-7]
CCDS48091.1 [P11532-12]
CCDS55394.1 [P11532-13]
CCDS55395.1 [P11532-11]
CCDS75965.1 [P11532-17]
PIRiA45255
RefSeqiNP_000100.2, NM_000109.3
NP_003997.1, NM_004006.2
NP_004000.1, NM_004009.3
NP_004001.1, NM_004010.3
NP_004002.2, NM_004011.3
NP_004003.1, NM_004012.3
NP_004004.1, NM_004013.2 [P11532-12]
NP_004005.1, NM_004014.2 [P11532-17]
NP_004006.1, NM_004015.2 [P11532-7]
NP_004007.1, NM_004016.2 [P11532-6]
NP_004008.1, NM_004017.2 [P11532-8]
NP_004009.1, NM_004018.2 [P11532-5]
NP_004010.1, NM_004019.2 [P11532-18]
NP_004011.2, NM_004020.3 [P11532-13]
NP_004012.1, NM_004021.2
NP_004013.1, NM_004022.2 [P11532-15]
NP_004014.1, NM_004023.2

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1DXXX-ray2.60A/B/C/D1-246[»]
1EG3X-ray2.00A3046-3306[»]
1EG4X-ray2.00A3046-3306[»]
3UUNX-ray2.30A/B338-456[»]
SASBDBiP11532
SMRiP11532
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi108096, 82 interactors
DIPiDIP-32593N
IntActiP11532, 56 interactors
MINTiP11532
STRINGi9606.ENSP00000354923

Chemistry databases

DrugBankiDB15593, Golodirsen
DrugCentraliP11532

Protein family/group databases

TCDBi8.A.66.1.2, the dystrophin (dystrophin) family

PTM databases

CarbonylDBiP11532
GlyGeniP11532, 1 site, 1 O-linked glycan (1 site)
iPTMnetiP11532
PhosphoSitePlusiP11532
SwissPalmiP11532

Genetic variation databases

BioMutaiDMD
DMDMi313104240

Proteomic databases

EPDiP11532
jPOSTiP11532
MassIVEiP11532
MaxQBiP11532
PaxDbiP11532
PeptideAtlasiP11532
PRIDEiP11532
ProteomicsDBi17631
17635
17951
19709
19712
25166
29059
52788 [P11532-1]
52789 [P11532-2]
52790 [P11532-3]
52791 [P11532-4]
52792 [P11532-5]
52793 [P11532-6]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		476, 630 antibodies

The DNASU plasmid repository

More...DNASUi		1756

Genome annotation databases

EnsembliENST00000361471; ENSP00000354464; ENSG00000198947 [P11532-5]
ENST00000378680; ENSP00000367951; ENSG00000198947 [P11532-9]
ENST00000378702; ENSP00000367974; ENSG00000198947 [P11532-7]
ENST00000378723; ENSP00000367997; ENSG00000198947 [P11532-6]
ENST00000682600; ENSP00000507640; ENSG00000198947 [P11532-8]
GeneIDi1756
KEGGihsa:1756
UCSCiuc004dcm.2, human [P11532-1]
uc004dcq.1, human
uc004dcr.1, human
uc004dct.1, human
uc004dcu.2, human
uc004dcv.1, human
uc004dcy.2, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		1756
DisGeNETi1756

GeneCards: human genes, protein and diseases

More...GeneCardsi		DMD
GeneReviewsiDMD
HGNCiHGNC:2928, DMD
HPAiENSG00000198947, Low tissue specificity
MalaCardsiDMD
MIMi300376, phenotype
300377, gene
302045, phenotype
310200, phenotype
neXtProtiNX_P11532
OpenTargetsiENSG00000198947
Orphaneti98895, Becker muscular dystrophy
98896, Duchenne muscular dystrophy
154, Familial isolated dilated cardiomyopathy
206546, Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
777, X-linked non-syndromic intellectual disability
PharmGKBiPA27378
VEuPathDBiHostDB:ENSG00000198947

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4286, Eukaryota
GeneTreeiENSGT00940000154342
HOGENOMiCLU_001187_1_2_1
InParanoidiP11532
OrthoDBi924518at2759
PhylomeDBiP11532
TreeFamiTF320178

Enzyme and pathway databases

PathwayCommonsiP11532
ReactomeiR-HSA-3000171, Non-integrin membrane-ECM interactions
R-HSA-390522, Striated Muscle Contraction
SignaLinkiP11532
SIGNORiP11532

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		1756, 3 hits in 651 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		DMD, human
EvolutionaryTraceiP11532

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Dystrophin

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		1756
PharosiP11532, Tclin

Protein Ontology

More...PROi		PR:P11532
RNActiP11532, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000198947, Expressed in trigeminal ganglion and 248 other tissues
ExpressionAtlasiP11532, baseline and differential
GenevisibleiP11532, HS

Family and domain databases

CDDicd00014, CH, 2 hits
cd00201, WW, 1 hit
Gene3Di1.10.418.10, 2 hits
3.30.60.90, 1 hit
IDEALiIID00267
InterProiView protein in InterPro
IPR001589, Actinin_actin-bd_CS
IPR001715, CH-domain
IPR036872, CH_dom_sf
IPR035436, Dystrophin/utrophin
IPR011992, EF-hand-dom_pair
IPR015153, EF-hand_dom_typ1
IPR015154, EF-hand_dom_typ2
IPR018159, Spectrin/alpha-actinin
IPR002017, Spectrin_repeat
IPR001202, WW_dom
IPR036020, WW_dom_sf
IPR000433, Znf_ZZ
IPR043145, Znf_ZZ_sf
PfamiView protein in Pfam
PF00307, CH, 2 hits
PF09068, EF-hand_2, 1 hit
PF09069, EF-hand_3, 1 hit
PF00435, Spectrin, 17 hits
PF00397, WW, 1 hit
PF00569, ZZ, 1 hit
PIRSFiPIRSF002341, Dystrophin/utrophin, 1 hit
SMARTiView protein in SMART
SM00033, CH, 2 hits
SM00150, SPEC, 22 hits
SM00456, WW, 1 hit
SM00291, ZnF_ZZ, 1 hit
SUPFAMiSSF47473, SSF47473, 2 hits
SSF47576, SSF47576, 1 hit
SSF51045, SSF51045, 1 hit
PROSITEiView protein in PROSITE
PS00019, ACTININ_1, 1 hit
PS00020, ACTININ_2, 1 hit
PS50021, CH, 2 hits
PS01159, WW_DOMAIN_1, 1 hit
PS50020, WW_DOMAIN_2, 1 hit
PS01357, ZF_ZZ_1, 1 hit
PS50135, ZF_ZZ_2, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDMD_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P11532
Secondary accession number(s): A1L0U9
, E7EQR9, E7EQS5, E7ESB2, E9PDN1, E9PDN5, F5GZY3, F8VX32, Q02295, Q14169, Q14170, Q5JYU0, Q6NSJ9, Q7KZ48, Q8N754, Q9UCW3, Q9UCW4
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: November 30, 2010
Last modified: September 29, 2021
This is version 251 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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