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Description for Protein DMD

dystrophin
23 total interacting proteins; 10 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(undefined: 1)
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] (PubMed Links)
Domains and Motifs:
  • SPECTRIN: Spectrin repeat
  • CH: Calponin homology domain
  • WW: Domain with 2 conserved Trp (W) residues
  • ZnF_ZZ: Zinc-binding domain, present in Dystrophin, CREB-binding protein.
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K10366
    KEGG - Pathway(s):
    hsa05410; hsa05412; hsa05414; hsa05416
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Apo-dystrophin 1; BMD; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; Dystrophin Dp71ab isoform; Dystrophin Dp40 isoform; Dystrophin Dp140b isoform; Dystrophin Dp140c isoform; Dystrophin Dp140ab isoform; Dystrophin Dp140bc isoform; Dystrophin Dp427c isoform; Dystrophin Dp427l isoform; Dystrophin Dp427p1 isoform; Dystrophin Dp427p2 isoform; Dystrophin Dp260-1 isoform; Dystrophin Dp260-2 isoform; Dystrophin Dp140 isoform; Dystrophin Dp116 isoform; Dystrophin Dp71 isoform; Dystrophin Dp71b isoform; Dystrophin Dp71a isoform; Dystrophin Dp427m isoform
    Approved Symbol:
    DMD
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 332
    Human (de-) phosphorylation sites: 332; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Becker muscular dystrophy(Pd);
  • Becker muscular dystrophy, atypical(Pd);
  • Cardiomyopathy, dilated, 3B(Pd);
  • Duchenne muscular dystrophy(Pd);
  • Duchenne muscular dystrophy, mental retardation, and absence of ERG B-wave(Pd);
  • Intermediate muscular dystrophy(Pd)
    		• Predicted Transmembrane Domains:
    02303_18(0)
    02303_17(0)
    02303_16(0)
    02303_15(0)
    02303_14(0)
    02303_13(0)
    02303_12(0)
    02303_11(0)
    02303_10(0)
  • Isoform 9 : 0
  • Isoform 8 : 0
  • Isoform 7 : 0
  • Isoform 6 : 0
  • Isoform 5 : 0
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02303 Entrez Gene ID: 1756 OMIM ID: 300377 Swissprot Accession: Q4G0X0; P11532; Q8N754;