Growth hormone 1

Growth hormone 1, also known as pituitary growth hormone or simply as growth hormone (GH) or somatotropin, is a protein that in humans is encoded by the GH1 gene.[3]

GH1
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 1AXI, 1HUW, 1A22, 1HGU, 3HHR, 1KF9, 1HWG, 1BP3, 1HWH
Identifiers
Aliases	GH1, GH, GH-N, GHN, IGHD1B, hGH-N, GHB5, Growth hormone 1, IGHD2, IGHD1A
External IDs	OMIM: 139250 HomoloGene: 128036 GeneCards: GH1
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q23.3 Start 63,917,200 bp[1] End 63,918,839 bp[1]
RNA expression pattern More reference expression data
Gene ontology Molecular function • hormone activity • metal ion binding • GO:0001948 protein binding • growth factor activity • growth hormone receptor binding • prolactin receptor binding Cellular component • extracellular region • extracellular • endosome lumen • growth hormone receptor complex • collagen-containing extracellular matrix Biological process • JAK-STAT cascade involved in growth hormone signaling pathway • response to estradiol • positive regulation of MAP kinase activity • positive regulation of receptor internalization • bone maturation • growth hormone receptor signaling pathway • positive regulation of insulin-like growth factor receptor signaling pathway • positive regulation of multicellular organism growth • positive regulation of peptidyl-tyrosine phosphorylation • positive regulation of phosphatidylinositol 3-kinase signaling • positive regulation of JAK-STAT cascade • positive regulation of activation of Janus kinase activity • positive regulation of tyrosine phosphorylation of STAT protein • regulation of receptor activity • positive regulation of glucose transport • response to nutrient levels • positive regulation of growth • animal organ development • signal transduction Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	2688	n/a
Ensembl	ENSG00000259384	n/a
UniProt	P01241	n/a
RefSeq (mRNA)	NM_000515 NM_022559 NM_022560 NM_022561 NM_022562	n/a
RefSeq (protein)	NP_000506 NP_072053 NP_072054	n/a
Location (UCSC)	Chr 17: 63.92 – 63.92 Mb	n/a
PubMed search	[2]	n/a
Wikidata
View/Edit Human

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.[4]

See also

• Placental growth hormone
• Somatotropin family

References

1. GRCh38: Ensembl release 89: ENSG00000259384 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. 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.
4. "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.