Growth hormone 1

Growth hormone 1
PDB rendering based on 1a22.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 1A22​, 1AXI​, 1BP3​, 1HGU​, 1HUW​, 1HWG​, 1HWH​, 1KF9​, 3HHR​
Identifiers
Symbols	GH1 ; GH; GH-N; GHN; IGHD1B; hGH-N
External IDs	OMIM: 139250 HomoloGene: 128036 GeneCards: GH1 Gene
Gene ontology Molecular function • growth hormone receptor binding • prolactin receptor binding • hormone activity • protein binding • growth factor activity • metal ion binding Cellular component • extracellular region • extracellular space • intracellular Biological process • positive regulation of receptor internalization • JAK-STAT cascade • positive regulation of activation of JAK2 kinase activity • positive regulation of phosphatidylinositol 3-kinase signaling • glucose transport • response to estradiol • positive regulation of multicellular organism growth • positive regulation of tyrosine phosphorylation of Stat3 protein • positive regulation of tyrosine phosphorylation of Stat5 protein • positive regulation of MAP kinase activity • positive regulation of insulin-like growth factor receptor signaling pathway • positive regulation of JAK-STAT cascade • positive regulation of peptidyl-tyrosine phosphorylation • growth hormone receptor signaling pathway • JAK-STAT cascade involved in growth hormone signaling pathway • bone maturation Sources: Amigo / QuickGO
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

• Growth hormone

References

1. Barsh GS, Seeburg PH, Gelinas RE (Aug 1983). "The human growth hormone gene family: structure and evolution of the chromosomal locus". Nucleic Acids Res 11 (12): 3939–58. doi:10.1093/nar/11.12.3939. PMC 326017. PMID 6306568.
2. "Entrez Gene: GH1 growth hormone 1".

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.