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Description for Protein COL4A6

collagen, type IV, alpha 6
10 total interacting proteins; 5 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Two splice variants have been identified for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • COLL: Collagen triple helix repeat (20 copies)
  • C4: C-terminal tandem repeated domain in type 4 procollagens
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K06237
    KEGG - Pathway(s):
    hsa04510; hsa04512; hsa05200; hsa05222
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Collagen of basement membrane, alpha-6; Collagen type IV a6 chain; Type IV alpha 6 collagen; Collagen IV, alpha-6 polypeptide; A6(IV) collagen; Alpha-6 type IV collagen; Type IV alpha 6 collagen isoform B; Type IV alpha 6 collagen isoform A precursor
    Approved Symbol:
    COL4A6
    (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:

  • Leiomyomatosis, diffuse, with alport syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02364 Entrez Gene ID: 1288 OMIM ID: 303631 Swissprot Accession: Q14031; Q9BS57;