Growth hormone 1

From Wikipedia, the free encyclopedia


Growth hormone 1
PDB rendering based on 1a22.
Available structures: 1a22, 1axi, 1bp3, 1hgu, 1huw, 1hwg, 1hwh, 1kf9, 3hhr
Identifiers
Symbol(s) GH1; GH; GH-N; GHN; hGH-N
External IDs OMIM: 139250
RNA expression pattern

More reference expression data

Orthologs
Human Mouse
Entrez 2688 n/a
Ensembl ENSG00000189162 n/a
Uniprot P01241 n/a
Refseq NM_000515 (mRNA)
NP_000506 (protein)
n/a (mRNA)
n/a (protein)
Location Chr 17: 59.35 - 59.35 Mb n/a
Pubmed search [1] n/a

Growth hormone 1, also known as GH1, is a human gene.

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.[1]

[edit] See also

[edit] References

[edit] Further reading

  • Binder G (2003). "Isolated growth hormone deficiency and the GH-1 gene: update 2002.". Horm. Res. 58 Suppl 3: 2–6. PMID 12435888. 
  • Waxman DJ, O'Connor C (2007). "Growth hormone regulation of sex-dependent liver gene expression.". Mol. Endocrinol. 20 (11): 2613–29. doi:10.1210/me.2006-0007. PMID 16543404. 
  • Cattini PA, Yang X, Jin Y, Detillieux KA (2006). "Regulation of the human growth hormone gene family: possible role for Pit-1 in early stages of pituitary-specific expression and repression.". Neuroendocrinology 83 (3-4): 145–53. doi:10.1159/000095522. PMID 17047377. 
  • Wagner K, Hemminki K, Försti A (2007). "The GH1/IGF-1 axis polymorphisms and their impact on breast cancer development.". Breast Cancer Res. Treat. 104 (3): 233–48. doi:10.1007/s10549-006-9411-9. PMID 17082888.