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 GH1gene.[3]
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]
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 Wikipedia by expanding it.
growth, hormone, also, known, pituitary, growth, hormone, simply, growth, hormone, somatotropin, protein, that, humans, encoded, gene, gh1available, structurespdbhuman, uniprot, search, pdbe, rcsblist, codes1axi, 1huw, 1a22, 1hgu, 3hhr, 1kf9, 1hwg, 1bp3, 1hwhi. 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 3 GH1Available structuresPDBHuman UniProt search PDBe RCSBList of PDB id codes1AXI 1HUW 1A22 1HGU 3HHR 1KF9 1HWG 1BP3 1HWHIdentifiersAliasesGH1 GH GH N GHN IGHD1B hGH N GHB5 Growth hormone 1 IGHD2 IGHD1AExternal IDsOMIM 139250 HomoloGene 128036 GeneCards GH1Gene location Human Chr Chromosome 17 human 1 Band17q23 3Start63 917 200 bp 1 End63 918 839 bp 1 RNA expression patternBgeeHumanMouse ortholog Top expressed inpituitary glandanterior pituitaryright coronary arterygastric mucosaright uterine tubecanal of the cervixgastrocnemius musclespleenleft coronary arterybody of pancreasn aMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionhormone activity metal ion binding protein binding growth factor activity growth hormone receptor binding prolactin receptor bindingCellular componentextracellular region extracellular space endosome lumen growth hormone receptor complex collagen containing extracellular matrixBiological processgrowth 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 transductionSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez2688n aEnsemblENSG00000259384n aUniProtP01241n aRefSeq mRNA NM 000515NM 022559NM 022560NM 022561NM 022562n aRefSeq protein NP 000506NP 072053NP 072054n aLocation UCSC Chr 17 63 92 63 92 Mbn aPubMed search 2 n aWikidataView Edit HumanThe 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 EditPlacental growth hormone Somatotropin familyReferences Edit a b c GRCh38 Ensembl release 89 ENSG00000259384 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine 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 Entrez Gene GH1 growth hormone 1 Further reading EditBinder 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 Forsti 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 Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Growth hormone 1 amp oldid 1142122887, wikipedia, wiki, book, books, library,
