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Homo sapiens growth hormone 1 (GH1), transcript variant 2, mRNA.


RefSeq Accession Definition Services Price Order
NM_022559 Homo sapiens growth hormone 1 (GH1), transcript variant 2, mRNA. ORF Sequence $176.61
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RefSeq Version NM_022559.2, 20809249
Length 777 bp
Structure linear
Update Date 21-APR-2013
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, Jul 2008].


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
Misc Feature(1)165..662
Misc Feature(2)165..662
Misc Feature(3)order(165..167,174..176,183..188,192..194,201..206,
Misc Feature(4)411..413
Misc Feature(5)543..545
Misc Feature(6)233..308
Exon (1)1..72
Gene:GH1
Gene Synonym:GH; GH-N; GHN; hGH-N; IGHD1B
Exon (2)73..233
Gene:GH1
Gene Synonym:GH; GH-N; GHN; hGH-N; IGHD1B
Exon (3)234..308
Gene:GH1
Gene Synonym:GH; GH-N; GHN; hGH-N; IGHD1B
Exon (4)309..473
Gene:GH1
Gene Synonym:GH; GH-N; GHN; hGH-N; IGHD1B
Exon (5)474..777
Gene:GH1
Gene Synonym:GH; GH-N; GHN; hGH-N; IGHD1B
Translation MATGSRTSLLLAFGLLCLPWLQEGSAFPTIPLSRLFDNAMLRAHRLHQLAFDTYQEFNPQ TSLCFSESIPTPSNREETQQKSNLELLRISLLLIQSWLEPVQFLRSVFANSLVYGASDSN VYDLLKDLEEGIQTLMGRLEDGSPRTGQIFKQTYSKFDTNSHNDDALLKNYGLLYCFRKD MDKVETFLRIVQCRSVEGSCGF
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Position Chain Variation Link
complement(3)-dbSNP:
complement(3)-g, cdbSNP:6175
complement(16)-g, adbSNP:9282699
complement(25)-c, adbSNP:6172
complement(33)-t, cdbSNP:200562012
complement(59)-g, c, adbSNP:6173
complement(67)-g, adbSNP:111801128
complement(69)-t, cdbSNP:2001345
complement(74)-dbSNP:
complement(74)-g, adbSNP:146624652
complement(77)-g, adbSNP:111957225
complement(78)-t, gdbSNP:140576665
complement(83)-g, adbSNP:61762496
complement(110)-g, cdbSNP:151294724
complement(121)-g, adbSNP:137853219
complement(178)-g, adbSNP:151263636
complement(186)-t, cdbSNP:71640273
complement(189)-t, cdbSNP:140787052
complement(196)-g, adbSNP:71640274
complement(201)-g, adbSNP:145327622
complement(212)-t, gdbSNP:61735359
complement(214)-t, adbSNP:61735357
complement(234)-dbSNP:
complement(234)-g, adbSNP:71640276
complement(253)-t, g, cdbSNP:137853222
complement(263)-g, cdbSNP:61762497
complement(285)-t, gdbSNP:200498241
complement(308)-g, adbSNP:201518977
complement(324)-t, cdbSNP:137853220
complement(331)-g, cdbSNP:6174
complement(344)-g, adbSNP:139163836
complement(345)-g, cdbSNP:150761983
complement(348)-g, adbSNP:141217174
complement(350)-g, adbSNP:71640278
complement(362)-g, adbSNP:144610881
complement(367)-t, cdbSNP:142396035
complement(380)-t, adbSNP:137882374
complement(405)-t, cdbSNP:201524858
complement(407)-g, adbSNP:143833877
complement(415)-t, adbSNP:199885167
complement(422)-t, cdbSNP:41295041
complement(423)-g, adbSNP:5388
complement(430)-g, adbSNP:137853221
complement(464)-g, adbSNP:41295043
complement(467)-g, cdbSNP:113379310
complement(476)-dbSNP:
complement(476)-t, cdbSNP:200925254
complement(485)-g, adbSNP:201849388
complement(487)-t, cdbSNP:201165777
complement(493)-c, adbSNP:41295253
complement(496)-t, gdbSNP:41295255
complement(497)-c, adbSNP:147704008
complement(510)-g, adbSNP:138880244
complement(533)-t, cdbSNP:4080075
complement(542)-c, adbSNP:4080076
complement(552)-g, cdbSNP:151243538
complement(563)-g, adbSNP:4080078
complement(564)-g, adbSNP:184640372
complement(576)-t, cdbSNP:200409102
complement(614)-g, cdbSNP:142704768
complement(632)-g, cdbSNP:148474991
complement(643)-g, adbSNP:137853223
complement(653)-t, cdbSNP:144550695
complement(708)-t, gdbSNP:201439757
Gene SymbolGH1
Gene SynonymGH; GH-N; GHN; hGH-N; IGHD1B
Chromosome17
Locus Map17q24.2
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000515 Homo sapiens growth hormone 1 (GH1), transcript variant 1, mRNA. Full Length $238.38
ORF Sequence $189.66
NM_022559 Homo sapiens growth hormone 1 (GH1), transcript variant 2, mRNA. Full Length $225.33
ORF Sequence $176.61
NM_022560 Homo sapiens growth hormone 1 (GH1), transcript variant 3, mRNA. Full Length $203.58
ORF Sequence $159.00
NM_022561 Homo sapiens growth hormone 1 (GH1), transcript variant 4, mRNA. Full Length $159.00
ORF Sequence $159.00
NM_022562 Homo sapiens growth hormone 1 (GH1), transcript variant 5, mRNA. Full Length $159.00
ORF Sequence $159.00
Title Short stature in two siblings heterozygous for a novel bioinactive .
Author Petkovic,V., Miletta,M.C., Boot,A.M., Losekoot,M., Fluck,C.E., Pandey,A.V., Eble,A., Wit,J.M. and Mullis,P.E.
Journal Eur. J. Endocrinol. 168 (3), K35-K43 (2013)
Title Negative regulation of human growth hormone gene expression by insulin is dependent on hypoxia-inducible factor binding in primary non-tumor pituitary cells .
Author Vakili,H., Jin,Y. and Cattini,P.A.
Journal J. Biol. Chem. 287 (40), 33282-33292 (2012)
Title DNase I hypersensitive site II of the human growth hormone locus control region mediates an essential and distinct long-range enhancer function .
Author Fleetwood,M.R., Ho,Y., Cooke,N.E. and Liebhaber,S.A.
Journal J. Biol. Chem. 287 (30), 25454-25465 (2012)
Title Effect of recombinant human growth hormone and interferon gamma on hepatic collagen synthesis and proliferation of hepatic stellate cells in cirrhotic rats .
Author Chen,Y.H., Du,B.Q., Zheng,Z.J., Xiang,G.M., Liu,X.B. and Mai,G.
Journal HBPD INT 11 (3), 294-301 (2012)
Title Association between serum growth hormone levels and nonalcoholic fatty liver disease: a cross-sectional study .
Author Xu,L., Xu,C., Yu,C., Miao,M., Zhang,X., Zhu,Z., Ding,X. and Li,Y.
Journal PLoS ONE 7 (8), E44136 (2012)
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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