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Description for Protein GH1

growth hormone 1
7 total interacting proteins; 3 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 somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed in the pituitary but not in placental tissue as is the case for the other four genes in the growth hormone locus. Mutations in or deletions of the gene lead to growth hormone deficiency and short stature. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K05438
    KEGG - Pathway(s):
    hsa04060; hsa04080; hsa04630
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    GH; Somatotropin; GH-N; Pituitary growth hormone; Growth hormone 1 isoform 5; Growth hormone 1 isoform 2; Growth hormone 1 isoform 3; Growth hormone 1 isoform 4
    Approved Symbol:
    GH1
    (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):

    None Available

    Associated Genetic Diseases:

  • Growth hormone deficiency(Pd);
  • Isolated growth hormone deficiency, type 1B(Pd);
  • Isolated growth hormone deficiency, type Ia(Pd);
  • Isolated growth hormone deficiency, type Ib(Pd);
  • Isolated growth hormone deficiency, type II(Pd);
  • Kowarski syndrome(Pd);
  • Short stature, idiopathic, autosomal(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 5 : 0
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00751 Entrez Gene ID: 2688 OMIM ID: 139250 Swissprot Accession: P01241; B1A4G7; B1A4G6;