{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"P11532","secondaryAccessions":["A0A075B6G3","A1L0U9","E7EQR9","E7EQS5","E7ESB2","E9PDN1","E9PDN5","F5GZY3","F8VX32","Q02295","Q14169","Q14170","Q5JYU0","Q6NSJ9","Q7KZ48","Q8N754","Q9UCW3","Q9UCW4"],"uniProtkbId":"DMD_HUMAN","entryAudit":{"firstPublicDate":"1989-10-01","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2024-10-02","entryVersion":273,"sequenceVersion":4},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"3282674"}],"value":"Dystrophin"}}},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:2928"}],"value":"DMD"}}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P11531"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16710609"}],"value":"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"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P11530"},{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P11531"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10932245"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11495720"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16000376"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7592992"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7844150"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8576247"}],"value":"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:10932245, PubMed:11495720, PubMed:7592992). 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). Interacts with PGM5; the interaction is direct (By similarity). Interacts with NOS1; localizes NOS1 to sarcolemma in muscle cells (By similarity)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"P11532","intActId":"EBI-295827"},"interactantTwo":{"uniProtKBAccession":"Q9UBT7","geneName":"CTNNAL1","intActId":"EBI-514206"},"numberOfExperiments":11,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P11532","intActId":"EBI-295827"},"interactantTwo":{"uniProtKBAccession":"Q9Y4J8","geneName":"DTNA","intActId":"EBI-949471"},"numberOfExperiments":6,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P11532","intActId":"EBI-295827"},"interactantTwo":{"uniProtKBAccession":"O60941","geneName":"DTNB","intActId":"EBI-740402"},"numberOfExperiments":7,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P11532","intActId":"EBI-295827"},"interactantTwo":{"uniProtKBAccession":"O60941-5","geneName":"DTNB","intActId":"EBI-11984733"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P11532","intActId":"EBI-295827"},"interactantTwo":{"uniProtKBAccession":"Q96CS2","geneName":"HAUS1","intActId":"EBI-2514791"},"numberOfExperiments":6,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P11532","intActId":"EBI-295827"},"interactantTwo":{"uniProtKBAccession":"P41235-3","geneName":"HNF4A","intActId":"EBI-12690684"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P11532","intActId":"EBI-295827"},"interactantTwo":{"uniProtKBAccession":"P08727","geneName":"KRT19","intActId":"EBI-742756"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P11532","intActId":"EBI-295827"},"interactantTwo":{"uniProtKBAccession":"Q9NRD5","geneName":"PICK1","intActId":"EBI-79165"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P11532","intActId":"EBI-295827"},"interactantTwo":{"uniProtKBAccession":"Q13424","geneName":"SNTA1","intActId":"EBI-717191"},"numberOfExperiments":6,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P11532","intActId":"EBI-295827"},"interactantTwo":{"uniProtKBAccession":"Q13884","geneName":"SNTB1","intActId":"EBI-295843"},"numberOfExperiments":7,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P11532","intActId":"EBI-295827"},"interactantTwo":{"uniProtKBAccession":"Q13425","geneName":"SNTB2","intActId":"EBI-80411"},"numberOfExperiments":6,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P11532-5","intActId":"EBI-1018651"},"interactantTwo":{"uniProtKBAccession":"Q01484","geneName":"ANK2","intActId":"EBI-941975"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P11532-5","intActId":"EBI-1018651"},"interactantTwo":{"uniProtKBAccession":"Q3T1J5","geneName":"Ank3","intActId":"EBI-2133962"},"numberOfExperiments":2,"organismDiffer":true}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P11531"}],"value":"In muscle cells, sarcolemma localization requires the presence of ANK2, while localization to costameres requires the presence of ANK3. Localizes to neuromuscular junctions (NMJs). In adult muscle, NMJ localization depends upon ANK2 presence, but not in newborn animals"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P11531"}],"value":"Cell membrane, sarcolemma","id":"SL-0238"},"topology":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P11531"}],"value":"Peripheral membrane protein","id":"SL-9903"},"orientation":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P11531"}],"value":"Cytoplasmic side","id":"SL-9910"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P11531"}],"value":"Cytoplasm, cytoskeleton","id":"SL-0090"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P11531"}],"value":"Postsynaptic cell membrane","id":"SL-0219"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative promoter usage","Alternative splicing"],"isoforms":[{"name":{"value":"1"},"synonyms":[{"value":"Dystrophin-4"},{"value":"Dp427m"}],"isoformIds":["P11532-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"synonyms":[{"value":"Dystrophin-3"},{"value":"Dp427c"}],"isoformIds":["P11532-4"],"sequenceIds":["VSP_006809"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"synonyms":[{"value":"Dp427p"}],"isoformIds":["P11532-11"],"sequenceIds":["VSP_060274"],"isoformSequenceStatus":"Described"},{"name":{"value":"4"},"synonyms":[{"value":"Dystrophin-1"},{"value":"Dp260-1"}],"isoformIds":["P11532-2"],"sequenceIds":["VSP_006806","VSP_006807"],"isoformSequenceStatus":"Described"},{"name":{"value":"5"},"synonyms":[{"value":"Dystrophin-2"},{"value":"Dp260-2"}],"isoformIds":["P11532-3"],"sequenceIds":["VSP_006808","VSP_006807"],"isoformSequenceStatus":"Described"},{"name":{"value":"6"},"synonyms":[{"value":"Dp140"}],"isoformIds":["P11532-12"],"sequenceIds":["VSP_060275"],"isoformSequenceStatus":"Described"},{"name":{"value":"7"},"synonyms":[{"value":"Dp140c"}],"isoformIds":["P11532-13"],"sequenceIds":["VSP_060275","VSP_046319"],"isoformSequenceStatus":"Described"},{"name":{"value":"8"},"synonyms":[{"value":"Dp140b"}],"isoformIds":["P11532-14"],"sequenceIds":["VSP_060275","VSP_017493"],"isoformSequenceStatus":"Described"},{"name":{"value":"9"},"synonyms":[{"value":"Dp140ab"}],"isoformIds":["P11532-15"],"sequenceIds":["VSP_060275","VSP_017492","VSP_017493"],"isoformSequenceStatus":"Described"},{"name":{"value":"10"},"synonyms":[{"value":"Dp140bc"}],"isoformIds":["P11532-16"],"sequenceIds":["VSP_060275","VSP_046319","VSP_017493"],"isoformSequenceStatus":"Described"},{"name":{"value":"11"},"synonyms":[{"value":"Dp116"}],"isoformIds":["P11532-17"],"sequenceIds":["VSP_060276","VSP_060277"],"isoformSequenceStatus":"Described"},{"name":{"value":"12"},"synonyms":[{"value":"Dp71"}],"isoformIds":["P11532-7"],"sequenceIds":["VSP_017490","VSP_017491"],"isoformSequenceStatus":"Described"},{"name":{"value":"13"},"synonyms":[{"value":"Dp71a"}],"isoformIds":["P11532-8"],"sequenceIds":["VSP_017490","VSP_017491","VSP_017492"],"isoformSequenceStatus":"Described"},{"name":{"value":"14"},"synonyms":[{"value":"Dp71b"}],"isoformIds":["P11532-6"],"sequenceIds":["VSP_017490","VSP_017491","VSP_017493"],"isoformSequenceStatus":"Described"},{"name":{"value":"15"},"synonyms":[{"value":"Dp71ab"}],"isoformIds":["P11532-5"],"sequenceIds":["VSP_017490","VSP_017491","VSP_017492","VSP_017493"],"isoformSequenceStatus":"Described"},{"name":{"value":"16"},"synonyms":[{"value":"Dp60"},{"value":"Dp71delta110"}],"isoformIds":["P11532-9"],"sequenceIds":["VSP_017490","VSP_017491","VSP_046319","VSP_017493"],"isoformSequenceStatus":"Described"},{"name":{"value":"17"},"synonyms":[{"value":"Dp40"}],"isoformIds":["P11532-18"],"sequenceIds":["VSP_017490","VSP_017491","VSP_060278"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"1319059"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16000376"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8541829"}],"value":"Expressed in muscle fibers accumulating in the costameres of myoplasm at the sarcolemma. 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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. 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