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Description for Protein GDF5

growth differentiation factor 5
8 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Mutations in this gene are associated with acromesomelic dysplasia, Hunter-Thompson type; brachydactyly, type C; and chondrodysplasia, Grebe type. These associations confirm that the gene product plays a role in skeletal development. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • TGFB: Transforming growth factor-beta (TGF-beta) family

  • Gene Ontology:
    Gene Ontology Annotations

    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04664
    KEGG - Pathway(s):
    hsa04060; hsa04350
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Cartilage derived morphogenetic protein 1; CDMP1; Lipopolysaccharide-associated protein 4; LAP4; LPS associated protein 4
    Approved Symbol:
    GDF5
    (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):

  • Isopropyl Alcohol(db)


    Associated Genetic Diseases:

  • Acromesomelic dysplasia, Hunter-Thompson type(Pd);
  • Brachydactyly, type C(Pd);
  • Chondrodysplasia, Grebe type(Pd);
  • Chrondrodysplasia, Grebe type(Pd);
  • Fibular hypoplasia and complex brachydactyly(Pd);
  • Symphalangism, proximal(Pd)
  • Predicted Transmembrane Domains:
  • Isoform 1 : 0
  • Additional Identifiers:

    HPRD: 03092 Entrez Gene ID: 8200 OMIM ID: 601146 Swissprot Accession: P43026