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Description for Protein COL4A4

collagen, type IV, alpha 4
12 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. This particular collagen IV subunit, however, is only found in a subset 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 so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [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 4 chain
    Approved Symbol:
    COL4A4
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 6
    Human (de-) phosphorylation sites: 6; 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:

  • Alport syndrome, autosomal recessive(Pd);
  • Hematuria, benign familial(Pd)
  • Predicted Transmembrane Domains:
  • Isoform 1 : 0
  • Additional Identifiers:

    HPRD: 00360 Entrez Gene ID: 1286 OMIM ID: 120131 Swissprot Accession: P53420