Sequence in raw or FASTA format:
Homo sapiens growth hormone 1 (GH1), transcript variant 2, mRNA.
| RefSeq Version | NM_022559.2, 20809249 |
| Length | 777 bp |
| Structure | linear |
| Update Date | 24-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens growth hormone 1 (GH1), transcript variant 2, mRNA. |
| Product | somatotropin isoform 2 |
| Comment | Summary: The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which 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 which is 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. [provided by RefSeq]. Transcript Variant: This variant (2) utilizes an alternative splice acceptor site 45 nt into exon 3 to generate the 20-kDa isoform (2) which has an internal deletion relative to the predominant 22-kDa isoform (1). |
| RefSeq | NP_072053.1 |
| CDS | 63..671 | Exon (1) | 1..72 | Exon (2) | 1..72 | Exon (3) | 73..233 | Exon (4) | 234..308 | Exon (5) | 309..473 | Exon (6) | 474..777 |
| Translation | MATGSRTSLLLAFGLLCLPWLQEGSAFPTIPLSRLFDNAMLRAHRLHQLAFDTYQEFNPQ
TSLCFSESIPTPSNREETQQKSNLELLRISLLLIQSWLEPVQFLRSVFANSLVYGASDSN
VYDLLKDLEEGIQTLMGRLEDGSPRTGQIFKQTYSKFDTNSHNDDALLKNYGLLYCFRKD
MDKVETFLRIVQCRSVEGSCGF
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| Gene Symbol | GH1 |
| Gene Synonym | GH; GH-N; GHN; hGH-N; IGHD1B |
| Chromosome | 17 |
| Locus Map | 17q24.2 |
| All Transcripts | NM_022559 , NM_022560 , NM_022561 , NM_022562 , NM_000515 |
| Title | Stability of human growth hormone: influence of methionine oxidation on thermal folding . |
| Author | Mulinacci,F., Capelle,M.A., Gurny,R., Drake,A.F. and Arvinte,T. |
| Journal | J Pharm Sci 100 (2), 451-463 (2011) |
| Title | Polymorphisms in the pituitary growth hormone gene and its receptor associated with coronary artery disease in a predisposed cohort from India . |
| Author | Maitra,A., Shanker,J., Dash,D., Sannappa,P.R., John,S., Siwach,P., Rao,V.S., Sridhara,H. and Kakkar,V.V. |
| Journal | J. Genet. 89 (4), 437-447 (2010) |
| Title | GH and IGF1 levels are positively associated with musculotendinous collagen expression: experiments in acromegalic and GH deficiency patients . |
| Author | Doessing,S., Holm,L., Heinemeier,K.M., Feldt-Rasmussen,U., Schjerling,P., Qvortrup,K., Larsen,J.O., Nielsen,R.H., Flyvbjerg,A. and Kjaer,M. |
| Journal | Eur. J. Endocrinol. 163 (6), 853-862 (2010) |
| Title | Phosphorylation of sterol regulatory element-binding protein (SREBP)-1a links growth hormone action to lipid metabolism in hepatocytes . |
| Author | Kotzka,J., Knebel,B., Avci,H., Jacob,S., Nitzgen,U., Jockenhovel,F., Heeren,J., Haas,J. and Muller-Wieland,D. |
| Journal | Atherosclerosis 213 (1), 156-165 (2010) |
| Title | Hundreds of variants clustered in genomic loci and biological pathways affect human height . |
| Author | Lango Allen,H., Estrada,K., Lettre,G., Berndt,S.I., Weedon,M.N., Rivadeneira,F., Willer,C.J., Jackson,A.U., Vedantam,S., Raychaudhuri,S., Ferreira,T., Wood,A.R., Weyant,R.J., Segre,A.V., Speliotes,E.K., Wheeler,E., Soranzo,N., Park,J.H., Yang,J., Gudbjartsson,D., Heard-Costa,N.L., Randall,J.C., Qi,L., Vernon Smith,A., Magi,R., Pastinen,T., Liang,L., Heid,I.M., Luan,J., Thorleifsson,G., Winkler,T.W., Goddard,M.E., Sin Lo,K., Palmer,C., Workalemahu,T., Aulchenko,Y.S., Johansson,A., Zillikens,M.C., Feitosa,M.F., Esko,T., Johnson,T., Ketkar,S., Kraft,P., Mangino,M., Prokopenko,I., Absher,D., Albrecht,E., Ernst,F., Glazer,N.L., Hayward,C., Hottenga,J.J., Jacobs,K.B., Knowles,J.W., Kutalik,Z., Monda,K.L., Polasek,O., Preuss,M., Rayner,N.W., Robertson,N.R., Steinthorsdottir,V., Tyrer,J.P., Voight,B.F., Wiklund,F., Xu,J., Zhao,J.H., Nyholt,D.R., Pellikka,N., Perola,M., Perry,J.R., Surakka,I., Tammesoo,M.L., Altmaier,E.L., Amin,N., Aspelund,T., Bhangale,T., Boucher,G., Chasman,D.I., Chen,C., Coin,L., Cooper,M.N., Dixon,A.L., Gibson,Q., Grundberg,E., Hao,K., Juhani Junttila,M., Kaplan,L.M., Kettunen,J., Konig,I.R., Kwan,T., Lawrence,R.W., Levinson,D.F., Lorentzon,M., McKnight,B., Morris,A.P., Muller,M., Suh Ngwa,J., Purcell,S., Rafelt,S., Salem,R.M., Salvi,E., Sanna,S., Shi,J., Sovio,U., Thompson,J.R., Turchin,M.C., Vandenput,L., Verlaan,D.J., Vitart,V., White,C.C., Ziegler,A., Almgren,P., Balmforth,A.J., Campbell,H., Citterio,L., De Grandi,A., Dominiczak,A., Duan,J., Elliott,P., Elosua,R., Eriksson,J.G., Freimer,N.B., Geus,E.J., Glorioso,N., Haiqing,S., Hartikainen,A.L., Havulinna,A.S., Hicks,A.A., Hui,J., Igl,W., Illig,T., Jula,A., Kajantie,E., Kilpelainen,T.O., Koiranen,M., Kolcic,I., Koskinen,S., Kovacs,P., Laitinen,J., Liu,J., Lokki,M.L., Marusic,A., Maschio,A., Meitinger,T., Mulas,A., Pare,G., Parker,A.N., Peden,J.F., Petersmann,A., Pichler,I., Pietilainen,K.H., Pouta,A., Ridderstrale,M., Rotter,J.I., Sambrook,J.G., Sanders,A.R., Schmidt,C.O., Sinisalo,J., Smit,J.H., Stringham,H.M., Bragi Walters,G., Widen,E., Wild,S.H., Willemsen,G., Zagato,L., Zgaga,L., Zitting,P., Alavere,H., Farrall,M., McArdle,W.L., Nelis,M., Peters,M.J., Ripatti,S., van Meurs,J.B., Aben,K.K., Ardlie,K.G., Beckmann,J.S., Beilby,J.P., Bergman,R.N., Bergmann,S., Collins,F.S., Cusi,D., den Heijer,M., Eiriksdottir,G., Gejman,P.V., Hall,A.S., Hamsten,A., Huikuri,H.V., Iribarren,C., Kahonen,M., Kaprio,J., Kathiresan,S., Kiemeney,L., Kocher,T., Launer,L.J., Lehtimaki,T., Melander,O., Mosley,T.H. Jr., Musk,A.W., Nieminen,M.S., O'Donnell,C.J., Ohlsson,C., Oostra,B., Palmer,L.J., Raitakari,O., Ridker,P.M., Rioux,J.D., Rissanen,A., Rivolta,C., Schunkert,H., Shuldiner,A.R., Siscovick,D.S., Stumvoll,M., Tonjes,A., Tuomilehto,J., van Ommen,G.J., Viikari,J., Heath,A.C., Martin,N.G., Montgomery,G.W., Province,M.A., Kayser,M., Arnold,A.M., Atwood,L.D., Boerwinkle,E., Chanock,S.J., Deloukas,P., Gieger,C., Gronberg,H., Hall,P., Hattersley,A.T., Hengstenberg,C., Hoffman,W., Lathrop,G.M., Salomaa,V., Schreiber,S., Uda,M., Waterworth,D., Wright,A.F., Assimes,T.L., Barroso,I., Hofman,A., Mohlke,K.L., Boomsma,D.I., Caulfield,M.J., Cupples,L.A., Erdmann,J., Fox,C.S., Gudnason,V., Gyllensten,U., Harris,T.B., Hayes,R.B., Jarvelin,M.R., Mooser,V., Munroe,P.B., Ouwehand,W.H., Penninx,B.W., Pramstaller,P.P., Quertermous,T., Rudan,I., Samani,N.J., Spector,T.D., Volzke,H., Watkins,H., Wilson,J.F., Groop,L.C., Haritunians,T., Hu,F.B., Kaplan,R.C., Metspalu,A., North,K.E., Schlessinger,D., Wareham,N.J., Hunter,D.J., O'Connell,J.R., Strachan,D.P., Wichmann,H.E., Borecki,I.B., van Duijn,C.M., Schadt,E.E., Thorsteinsdottir,U., Peltonen,L., Uitterlinden,A.G., Visscher,P.M., Chatterjee,N., Loos,R.J., Boehnke,M., McCarthy,M.I., Ingelsson,E., Lindgren,C.M., Abecasis,G.R., Stefansson,K., Frayling,T.M. and Hirschhorn,J.N. |
| Journal | Nature 467 (7317), 832-838 (2010) |
| Title | Isolated growth hormone (GH) deficiency type IA associated with a 45-kilobase gene deletion within the human GH gene cluster . |
| Author | Akinci,A., Kanaka,C., Eble,A., Akar,N., Vidinlisan,S. and Mullis,P.E. |
| Journal | J. Clin. Endocrinol. Metab. 75 (2), 437-441 (1992) |
| Title | A native RNA secondary structure controls alternative splice-site selection and generates two human growth hormone isoforms . |
| Author | Estes,P.A., Cooke,N.E. and Liebhaber,S.A. |
| Journal | J. Biol. Chem. 267 (21), 14902-14908 (1992) |
| Title | Human growth hormone and extracellular domain of its receptor: crystal structure of the complex . |
| Author | de Vos,A.M., Ultsch,M. and Kossiakoff,A.A. |
| Journal | Science 255 (5042), 306-312 (1992) |
| Title | Molecular cloning and nucleotide sequence of the human growth hormone structural gene . |
| Author | Roskam,W.G. and Rougeon,F. |
| Journal | Nucleic Acids Res. 7 (2), 305-320 (1979) |
| Title | Human growth hormone: complementary DNA cloning and expression in bacteria . |
| Author | Martial,J.A., Hallewell,R.A., Baxter,J.D. and Goodman,H.M. |
| Journal | Science 205 (4406), 602-607 (1979) |
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