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Description for Protein COL6A1

collagen, type VI, alpha 1
6 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • COLL: Collagen triple helix repeat (20 copies)
  • VWA: von Willebrand factor (vWF) type A domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K06238
    KEGG - Pathway(s):
    hsa04510; hsa04512
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Collagen, intimal; Short chain collagen; Collagen VI, alpha 1 polypeptide; Collagen alpha 1(VI) chain
    Approved Symbol:
    COL6A1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; 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:

  • Bethlem myopathy(Pd);
  • Ullrich congenital muscular dystrophy, autosomal dominant(Pd);
  • Ullrich congenital muscular dystrophy, autosomal recessive(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00370 Entrez Gene ID: 1291 OMIM ID: 120220 Swissprot Accession: P12109;