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Description for Protein SGCD

sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
4 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/1)
(phosphoproteome: 1; undefined: 1)
Summary:
The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K12563
    KEGG - Pathway(s):
    hsa05410; hsa05412; hsa05414; hsa05416
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    LGMD2F; CMD1L; Dystrophin associated glycoprotein 35KD; Delta-sarcoglycan isoform 1; Delta-sarcoglycan isoform 2
    Approved Symbol:
    SGCD
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 4
    Human (de-) phosphorylation sites: 4; Platelet phosphorylation sites: 2
    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:

  • Cardiomyopathy, dilated, 1L(Pd);
  • Muscular dystrophy, limb-girdle, type 2F(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 1
  • Isoform 2 : 1
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 03246 Entrez Gene ID: 6444 OMIM ID: 601411 Swissprot Accession: A8K9S9; Q92629;