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Description for Protein GHR

growth hormone receptor
27 total interacting proteins; 14 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a protein that is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. A common alternate allele of this gene, called GHRd3, lacks exon three and has been well-characterized. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. Other splice variants, including one encoding a soluble form of the protein (GHRtr), have been observed but have not been thoroughly characterized. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. The precise location of this cleavage site has not been determined for the human protein. (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • FN3: Fibronectin type 3 domain
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K05080
    KEGG - Pathway(s):
    hsa04060; hsa04080; hsa04630
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Somatotropin receptor
    Approved Symbol:
    GHR
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 7
    Human (de-) phosphorylation sites: 7; 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):

  • Pegvisomant(db);
  • Somatropin recombinant(db)

    Associated Genetic Diseases:

  • Hypercholesterolemia, familial, modification of(Pd);
  • Increased responsiveness to growth hormone(Pd);
  • Laron syndrome(Pd);
  • Laron syndrome with elevated serum gh-binding protein(Pd);
  • Laron syndrome with undetectable serum gh-binding protein(Pd);
  • Short stature, idiopathic, autosomal(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 02971 Entrez Gene ID: 2690 OMIM ID: 600946 Swissprot Accession: P10912;