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Growth hormone variant (GH-V) (Growth hormone 2) (Placenta-specific growth hormone)

 SOM2_HUMAN              Reviewed;         217 AA.
P01242; B1A4H5; B1A4H7; O14643; O14644; P09587;
21-JUL-1986, integrated into UniProtKB/Swiss-Prot.
27-MAR-2002, sequence version 3.
12-SEP-2018, entry version 168.
RecName: Full=Growth hormone variant;
Short=GH-V;
AltName: Full=Growth hormone 2;
AltName: Full=Placenta-specific growth hormone;
Flags: Precursor;
Name=GH2;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
PubMed=7169009; DOI=10.1089/dna.1.1982.1.239;
Seeburg P.H.;
"The human growth hormone gene family: nucleotide sequences show
recent divergence and predict a new polypeptide hormone.";
DNA 1:239-249(1982).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
TISSUE=Placenta;
PubMed=3379057;
Cooke N.E., Ray J., Emery J.G., Liebhaber S.A.;
"Two distinct species of human growth hormone-variant mRNA in the
human placenta predict the expression of novel growth hormone
proteins.";
J. Biol. Chem. 263:9001-9006(1988).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
PubMed=2460050; DOI=10.3109/13813458809079626;
Igout A., Scippo M.L., Frankenne F., Hennen G.;
"Cloning and nucleotide sequence of placental hGH-V cDNA.";
Arch. Int. Physiol. Biochim. 96:63-67(1988).
[4]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
PubMed=2744760; DOI=10.1016/0888-7543(89)90271-1;
Chen E.Y., Liao Y.C., Smith D.H., Barrera-Saldana H.A., Gelinas R.E.,
Seeburg P.H.;
"The human growth hormone locus: nucleotide sequence, biology, and
evolution.";
Genomics 4:479-497(1989).
[5]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4).
TISSUE=Placenta;
PubMed=9709963; DOI=10.1210/jcem.83.8.5017;
Boguszewski C.L., Svensson P.A., Jansson T., Clark R.,
Carlsson L.M.S., Carlsson B.;
"Cloning of two novel growth hormone transcripts expressed in human
placenta.";
J. Clin. Endocrinol. Metab. 83:2878-2885(1998).
[6]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=18473352; DOI=10.1002/humu.20767;
Sedman L., Padhukasahasram B., Kelgo P., Laan M.;
"Complex signatures of locus-specific selective pressures and gene
conversion on human growth hormone/chorionic somatomammotropin
genes.";
Hum. Mutat. 29:1181-1193(2008).
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Placenta;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
PubMed=19054851; DOI=10.1038/nmeth.1273;
Goshima N., Kawamura Y., Fukumoto A., Miura A., Honma R., Satoh R.,
Wakamatsu A., Yamamoto J., Kimura K., Nishikawa T., Andoh T., Iida Y.,
Ishikawa K., Ito E., Kagawa N., Kaminaga C., Kanehori K., Kawakami B.,
Kenmochi K., Kimura R., Kobayashi M., Kuroita T., Kuwayama H.,
Maruyama Y., Matsuo K., Minami K., Mitsubori M., Mori M.,
Morishita R., Murase A., Nishikawa A., Nishikawa S., Okamoto T.,
Sakagami N., Sakamoto Y., Sasaki Y., Seki T., Sono S., Sugiyama A.,
Sumiya T., Takayama T., Takayama Y., Takeda H., Togashi T., Yahata K.,
Yamada H., Yanagisawa Y., Endo Y., Imamoto F., Kisu Y., Tanaka S.,
Isogai T., Imai J., Watanabe S., Nomura N.;
"Human protein factory for converting the transcriptome into an in
vitro-expressed proteome.";
Nat. Methods 5:1011-1017(2008).
[9]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16625196; DOI=10.1038/nature04689;
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
"DNA sequence of human chromosome 17 and analysis of rearrangement in
the human lineage.";
Nature 440:1045-1049(2006).
[10]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[11]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Placenta;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[12]
PROTEIN SEQUENCE OF 27-57.
PubMed=2196278; DOI=10.1210/jcem-71-1-15;
Frankenne F., Scippo M.L., Van Beeumen J., Igout A., Hennen G.;
"Identification of placental human growth hormone as the growth
hormone-V gene expression product.";
J. Clin. Endocrinol. Metab. 71:15-18(1990).
[13]
REVIEW.
PubMed=10393484; DOI=10.1159/000053128;
Baumann G.;
"Growth hormone heterogeneity in human pituitary and plasma.";
Horm. Res. 51 Suppl. 1:2-6(1999).
-!- FUNCTION: Plays an important role in growth control. Its major
role in stimulating body growth is to stimulate the liver and
other tissues to secrete IGF-1. It stimulates both the
differentiation and proliferation of myoblasts. It also stimulates
amino acid uptake and protein synthesis in muscle and other
tissues.
-!- SUBUNIT: Monomer, dimer, trimer, tetramer and pentamer, disulfide-
linked or non-covalently associated, in homopolymeric and
heteropolymeric combinations. Can also form a complex either with
GHBP or with the alpha2-macroglobulin complex.
-!- SUBCELLULAR LOCATION: Secreted.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=4;
Name=1; Synonyms=GH-V1;
IsoId=P01242-1; Sequence=Displayed;
Name=2; Synonyms=GH-V2;
IsoId=P01242-2; Sequence=VSP_006203;
Note=No experimental confirmation available.;
Name=3;
IsoId=P01242-3; Sequence=VSP_043206;
Name=4;
IsoId=P01242-4; Sequence=VSP_043480;
Note=No experimental confirmation available.;
-!- TISSUE SPECIFICITY: Expressed in the placenta.
-!- SIMILARITY: Belongs to the somatotropin/prolactin family.
{ECO:0000305}.
-----------------------------------------------------------------------
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EMBL; K00470; AAA98619.1; -; Genomic_DNA.
EMBL; J03756; AAB59547.1; -; mRNA.
EMBL; J03756; AAB59548.1; -; mRNA.
EMBL; M38451; AAA35891.1; -; mRNA.
EMBL; J03071; AAA52552.1; -; Genomic_DNA.
EMBL; AF006060; AAB71828.1; -; mRNA.
EMBL; AF006061; AAB71829.1; -; mRNA.
EMBL; EU421715; ABZ88719.1; -; Genomic_DNA.
EMBL; EU421715; ABZ88720.1; -; Genomic_DNA.
EMBL; EU421715; ABZ88721.1; -; Genomic_DNA.
EMBL; EU421715; ABZ88722.1; -; Genomic_DNA.
EMBL; AK312194; BAG35127.1; -; mRNA.
EMBL; AB451332; BAG70146.1; -; mRNA.
EMBL; AB451477; BAG70291.1; -; mRNA.
EMBL; AC040958; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471109; EAW94238.1; -; Genomic_DNA.
EMBL; CH471109; EAW94248.1; -; Genomic_DNA.
EMBL; CH471109; EAW94252.1; -; Genomic_DNA.
EMBL; CH471109; EAW94258.1; -; Genomic_DNA.
EMBL; BC020760; AAH20760.1; -; mRNA.
CCDS; CCDS11647.1; -. [P01242-1]
CCDS; CCDS11648.1; -. [P01242-2]
CCDS; CCDS45757.1; -. [P01242-4]
CCDS; CCDS45758.1; -. [P01242-3]
PIR; A28072; STHUV2.
PIR; D32435; STHUV.
RefSeq; NP_002050.1; NM_002059.4. [P01242-1]
RefSeq; NP_072050.1; NM_022556.3. [P01242-3]
RefSeq; NP_072051.1; NM_022557.3. [P01242-2]
RefSeq; NP_072052.1; NM_022558.3. [P01242-4]
UniGene; Hs.406754; -.
UniGene; Hs.654390; -.
ProteinModelPortal; P01242; -.
SMR; P01242; -.
BioGrid; 108956; 2.
STRING; 9606.ENSP00000333157; -.
iPTMnet; P01242; -.
PhosphoSitePlus; P01242; -.
BioMuta; GH2; -.
PaxDb; P01242; -.
PeptideAtlas; P01242; -.
PRIDE; P01242; -.
ProteomicsDB; 51357; -.
ProteomicsDB; 51358; -. [P01242-2]
ProteomicsDB; 51359; -. [P01242-3]
ProteomicsDB; 51360; -. [P01242-4]
DNASU; 2689; -.
Ensembl; ENST00000332800; ENSP00000333157; ENSG00000136487. [P01242-2]
Ensembl; ENST00000423893; ENSP00000409294; ENSG00000136487. [P01242-1]
Ensembl; ENST00000449787; ENSP00000410618; ENSG00000136487. [P01242-3]
Ensembl; ENST00000456543; ENSP00000394122; ENSG00000136487. [P01242-4]
GeneID; 2689; -.
KEGG; hsa:2689; -.
UCSC; uc002jcl.3; human. [P01242-1]
CTD; 2689; -.
DisGeNET; 2689; -.
EuPathDB; HostDB:ENSG00000136487.17; -.
GeneCards; GH2; -.
HGNC; HGNC:4262; GH2.
HPA; HPA043715; -.
MIM; 139240; gene.
neXtProt; NX_P01242; -.
OpenTargets; ENSG00000136487; -.
PharmGKB; PA28672; -.
GeneTree; ENSGT00730000111012; -.
HOGENOM; HOG000068443; -.
HOVERGEN; HBG011318; -.
InParanoid; P01242; -.
KO; K05438; -.
OMA; RTTMTHC; -.
OrthoDB; EOG091G0HM9; -.
PhylomeDB; P01242; -.
TreeFam; TF332592; -.
Reactome; R-HSA-1170546; Prolactin receptor signaling.
Reactome; R-HSA-982772; Growth hormone receptor signaling.
SIGNOR; P01242; -.
ChiTaRS; GH2; human.
GeneWiki; Growth_hormone_2; -.
GenomeRNAi; 2689; -.
PRO; PR:P01242; -.
Proteomes; UP000005640; Chromosome 17.
Bgee; ENSG00000136487; Expressed in 38 organ(s), highest expression level in chorionic villus.
CleanEx; HS_GH2; -.
ExpressionAtlas; P01242; baseline and differential.
Genevisible; P01242; HS.
GO; GO:0031904; C:endosome lumen; TAS:Reactome.
GO; GO:0005576; C:extracellular region; TAS:Reactome.
GO; GO:0005179; F:hormone activity; TAS:ProtInc.
GO; GO:0060397; P:JAK-STAT cascade involved in growth hormone signaling pathway; TAS:Reactome.
InterPro; IPR009079; 4_helix_cytokine-like_core.
InterPro; IPR001400; Somatotropin/Prolactin.
InterPro; IPR018116; Somatotropin_CS.
PANTHER; PTHR11417; PTHR11417; 1.
Pfam; PF00103; Hormone_1; 1.
PRINTS; PR00836; SOMATOTROPIN.
SUPFAM; SSF47266; SSF47266; 1.
PROSITE; PS00266; SOMATOTROPIN_1; 1.
PROSITE; PS00338; SOMATOTROPIN_2; 1.
1: Evidence at protein level;
Alternative splicing; Complete proteome; Direct protein sequencing;
Disulfide bond; Glycoprotein; Hormone; Phosphoprotein; Polymorphism;
Reference proteome; Secreted; Signal.
SIGNAL 1 26 {ECO:0000269|PubMed:2196278}.
CHAIN 27 217 Growth hormone variant.
/FTId=PRO_0000033061.
MOD_RES 132 132 Phosphoserine.
{ECO:0000250|UniProtKB:P01241}.
MOD_RES 176 176 Phosphoserine.
{ECO:0000250|UniProtKB:P01241}.
CARBOHYD 166 166 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
DISULFID 79 191 {ECO:0000250}.
DISULFID 208 215 {ECO:0000250}.
VAR_SEQ 58 72 Missing (in isoform 3).
{ECO:0000303|PubMed:19054851,
ECO:0000303|PubMed:9709963}.
/FTId=VSP_043206.
VAR_SEQ 151 217 MWRLEDGSPRTGQIFNQSYSKFDTKSHNDDALLKNYGLLYC
FRKDMDKVETFLRIVQCRSVEGSCGF -> IGWKMAAPGLG
RSSISPTASLTQNRTTMTHCSRTTGCSTASGRTWTRSRHSC
ASCSAALWRAAVASSCPGGIPVTPPQCLSWSWKVLLQCPPA
LS (in isoform 4).
{ECO:0000303|PubMed:9709963}.
/FTId=VSP_043480.
VAR_SEQ 153 217 RLEDGSPRTGQIFNQSYSKFDTKSHNDDALLKNYGLLYCFR
KDMDKVETFLRIVQCRSVEGSCGF -> VRVAPGIPNPGAP
LASRDWGEKHCCPLFSSQALTQENSPYSSFPLVNPPGLSLQ
PGGEGGKWMNERGREQCPSAWPLLLFLHFAEAGRWQPPDWA
DLQSVLQQV (in isoform 2).
{ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:3379057}.
/FTId=VSP_006203.
VARIANT 90 90 R -> W (in dbSNP:rs5389).
/FTId=VAR_014591.
CONFLICT 44 44 Missing (in Ref. 12; AA sequence).
{ECO:0000305}.
CONFLICT 109 109 I -> T (in Ref. 2; AAB59547/AAB59548).
{ECO:0000305}.
SEQUENCE 217 AA; 25000 MW; 7B9324698E822F96 CRC64;
MAAGSRTSLL LAFGLLCLSW LQEGSAFPTI PLSRLFDNAM LRARRLYQLA YDTYQEFEEA
YILKEQKYSF LQNPQTSLCF SESIPTPSNR VKTQQKSNLE LLRISLLLIQ SWLEPVQLLR
SVFANSLVYG ASDSNVYRHL KDLEEGIQTL MWRLEDGSPR TGQIFNQSYS KFDTKSHNDD
ALLKNYGLLY CFRKDMDKVE TFLRIVQCRS VEGSCGF


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