MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP000843

UniProt Annotations

Entry Information
Gene Namedystrophin
Protein EntryDMD_HUMAN
UniProt IDP11532
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=10; Comment=Additional isoforms seem to exist.; Name=4; Synonyms=Dystrophin-4; IsoId=P11532-1; Sequence=Displayed; Name=1; Synonyms=Dystrophin-1; IsoId=P11532-2; Sequence=VSP_006806, VSP_006807; Name=2; Synonyms=Dystrophin-2; IsoId=P11532-3; Sequence=VSP_006808, VSP_006807; Name=3; Synonyms=Dystrophin-3; IsoId=P11532-4; Sequence=VSP_006809; Name=5; Synonyms=Dp71ab; IsoId=P11532-5; Sequence=VSP_017490, VSP_017491, VSP_017492, VSP_017493; Note=Contains a phosphothreonine at position 340. Contains a phosphoserine at position 348. Contains a phosphoserine at position 344.; Name=6; Synonyms=Dp71b; IsoId=P11532-6; Sequence=VSP_017490, VSP_017491, VSP_017493; Note=No experimental confirmation available.; Name=7; Synonyms=Dp71; IsoId=P11532-7; Sequence=VSP_017490, VSP_017491; Name=8; Synonyms=Dp71a; IsoId=P11532-8; Sequence=VSP_017490, VSP_017491, VSP_017492; Note=No experimental confirmation available. Contains a phosphothreonine at position 340. Contains a phosphoserine at position 348. Contains a phosphoserine at position 344.; Name=9; Synonyms=Dp60, Dp71delta110; IsoId=P11532-9; Sequence=VSP_017490, VSP_017491, VSP_046319, VSP_017493; Name=10; Synonyms=Dp71c; IsoId=P11532-10; Sequence=VSP_017490, VSP_017491, VSP_046319;
Developmental StageIsoform 5 is expressed in embryonic neural tissue from the sixth week of development. Isoform 9 is detected in all embryonic tissues examined. {ECO:0000269|PubMed:9370062}.
DiseaseBecker muscular dystrophy (BMD) [MIM:300376]: A 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. {ECO:0000269|PubMed:10573008}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseCardiomyopathy, dilated, X-linked 3B (CMD3B) [MIM:302045]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:12354438, ECO:0000269|PubMed:12359139, ECO:0000269|PubMed:9170407}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseDuchenne muscular dystrophy (DMD) [MIM:310200]: Most 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. {ECO:0000269|PubMed:12632325, ECO:0000269|PubMed:7981690, ECO:0000269|PubMed:8401582, ECO:0000269|PubMed:8817332, ECO:0000269|PubMed:9851445}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionAnchors 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. {ECO:0000269|PubMed:16710609}.
InteractionQ01484:ANK2; NbExp=2; IntAct=EBI-1018651, EBI-941975; Q3T1J5:Ank3 (xeno); NbExp=2; IntAct=EBI-1018651, EBI-2133962; P08727:KRT19; NbExp=2; IntAct=EBI-295827, EBI-742756; Q13884:SNTB1; NbExp=3; IntAct=EBI-295827, EBI-295843;
MiscellaneousThe 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.
SimilarityContains 1 WW domain. {ECO:0000255|PROSITE- ProRule:PRU00224}.
SimilarityContains 1 ZZ-type zinc finger. {ECO:0000255|PROSITE- ProRule:PRU00228}.
SimilarityContains 24 spectrin repeats. {ECO:0000305}.
SimilarityContains 2 CH (calponin-homology) domains. {ECO:0000255|PROSITE-ProRule:PRU00044}.
Subcellular LocationCell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}. Note=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 the presence of ANK2 (By similarity). {ECO:0000250}.
SubunitInteracts with SYNM (By similarity). Interacts with the syntrophins SNTA1, SNTB1, SNTB2, SNTG1 and SNTG2. Interacts with KRT19. 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. 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). {ECO:0000250}.
Tissue SpecificityExpressed in muscle fibers accumulating in the costameres of myoplasm at the sarcolemma. Expressed in brain, muscle, kidney, lung and testis. Isoform 5 is expressed in heart, brain, liver, testis and hepatoma cells. Most tissues contain transcripts of multiple isoforms, however only isoform 5 is detected in heart and liver. {ECO:0000269|PubMed:1319059, ECO:0000269|PubMed:16000376, ECO:0000269|PubMed:8541829}.
Web ResourceName=DMD; Note=Dystrophin Mutation Database; URL="http://www.dmd.nl/database.html";
Web ResourceName=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=DMD";
Web ResourceName=Wikipedia; Note=Dystrophin entry; URL="http://en.wikipedia.org/wiki/Dystrophin";
  logo