Growth hormone 1

Growth hormone 1

PDB rendering based on 1a22.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols GH1 ; GH; GH-N; GHN; IGHD1B; hGH-N
External IDs OMIM: 139250 HomoloGene: 128036 GeneCards: GH1 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 2688 n/a
Ensembl ENSG00000259384 n/a
UniProt P01241 n/a
RefSeq (mRNA) NM_000515 n/a
RefSeq (protein) NP_000506 n/a
Location (UCSC) Chr 17:
63.92 – 63.92 Mb
n/a
PubMed search n/a

Somatotropin is a protein that in humans is encoded by the GH1 gene.[1]

The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones that 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 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.[2]

See also

References

Further reading

  • Binder G (2003). "Isolated growth hormone deficiency and the GH-1 gene: update 2002.". Horm. Res. 58 Suppl 3: 2–6. doi:10.1159/000066476. 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. 


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