Misplaced Pages

GH1
Available structures PDB Ortholog 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; MGI: 95707; HomoloGene: 128036; GeneCards: GH1; OMA:GH1 - orthologs
Gene location (Human) Chr. Chromosome 17 (human) Band 17q23.3 Start 63,917,200 bp End 63,918,839 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11 E1|11 68.89 cM Start 106,191,097 bp End 106,192,691 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Pituitary Gland anterior pituitary testicle granulocyte right coronary artery gastric mucosa right hemisphere of cerebellum right uterine tube Descending thoracic aorta canal of the cervix Top expressed in Pituitary Gland morula anterior pituitary entorhinal cortex perirhinal cortex fetal liver hematopoietic progenitor cell Epithelium of choroid plexus epithelium of small intestine nucleus of stria terminalis choroid plexus of fourth ventricle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function hormone activity metal ion binding protein binding growth factor activity growth hormone receptor binding prolactin receptor binding Cellular component extracellular region extracellular space endosome lumen growth hormone receptor complex collagen-containing extracellular matrix Biological process growth hormone receptor signaling pathway via JAK-STAT 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 receptor signaling pathway via JAK-STAT positive regulation of activation of Janus kinase activity positive regulation of tyrosine phosphorylation of STAT protein regulation of signaling receptor activity positive regulation of glucose transmembrane transport response to nutrient levels positive regulation of growth animal organ development signal transduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2688 14599 Ensembl ENSG00000259384 ENSMUSG00000020713 UniProt P01241 P06880 RefSeq (mRNA) NM_000515 NM_022559 NM_022560 NM_022561 NM_022562 NM_008117 RefSeq (protein) NP_000506 NP_072053 NP_072054 NP_032143 Location (UCSC) Chr 17: 63.92 – 63.92 Mb Chr 11: 106.19 – 106.19 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

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

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.

See also

• Placental growth hormone
• Somatotropin family

References

1. ^ GRCh38: Ensembl release 89: ENSG00000259384 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000020713 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. "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 (3): 2–6. doi:10.1159/000066476. PMID 12435888. S2CID 34602772.
• 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. S2CID 34757447.
• 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. S2CID 13544290.

This article on a gene on human chromosome 17 is a stub. You can help Misplaced Pages by expanding it.

• v
• t
• e

• Genes on human chromosome 17
• Hormones of the somatotropic axis
• Human chromosome 17 gene stubs