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Description for Protein COL1A1

collagen, type I, alpha 1
33 total interacting proteins; 23 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 2/1)
(platelet: 2; secretome: 1)
Summary:
This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • COLL: Collagen triple helix repeat (20 copies)
  • COLFI: Fibrillar collagens C-terminal domain
  • VWC: von Willebrand factor (vWF) type C domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K06236
    KEGG - Pathway(s):
    hsa04510; hsa04512
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Collagen alpha 1(I) chain
    Approved Symbol:
    COL1A1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 5
    Human (de-) phosphorylation sites: 5; 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):

  • Collagenase(db)

    Associated Genetic Diseases:

  • Caffey disease(Pd);
  • Dissection of cervical arteries, susceptibility to(Pd);
  • Ehlers-Danlos syndrome, type I(Pd);
  • Ehlers-Danlos syndrome, type VII-A(Pd);
  • Ehlers-Danlos syndrome, type VIIA(Pd);
  • OI/EDS combined syndrome(Pd);
  • Osteogenesis imperfecta(Pd);
  • Osteogenesis imperfecta, type I(Pd);
  • Osteogenesis imperfecta, type II(Pd);
  • Osteogenesis imperfecta, type II, thin-bone type(Pd);
  • Osteogenesis imperfecta, type II/III(Pd);
  • Osteogenesis imperfecta, type IIA(Pd);
  • Osteogenesis imperfecta, type IIC(Pd);
  • Osteogenesis imperfecta, type III(Pd);
  • Osteogenesis imperfecta, type III/IV(Pd);
  • Osteogenesis imperfecta, type IV(Pd);
  • Osteoporosis, idiopathic(Pd);
  • Osteoporosis, susceptibility to(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00362 Entrez Gene ID: 1277 OMIM ID: 120150 Swissprot Accession: P02452;