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P01242 (SOM2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 138. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Growth hormone variant

Short name=GH-V
Alternative name(s):
Growth hormone 2
Placenta-specific growth hormone
Gene names
Name:GH2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length217 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

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 structure

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.

Tissue specificity

Expressed in the placenta.

Sequence similarities

Belongs to the somatotropin/prolactin family.

Ontologies

Keywords
   Cellular componentSecreted
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainSignal
   Molecular functionHormone
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processJAK-STAT cascade involved in growth hormone signaling pathway

Traceable author statement. Source: Reactome

   Cellular_componentextracellular region

Traceable author statement. Source: Reactome

   Molecular_functionhormone activity

Traceable author statement PubMed 8943276. Source: ProtInc

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P01242-1)

Also known as: GH-V1;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: P01242-2)

Also known as: GH-V2;

The sequence of this isoform differs from the canonical sequence as follows:
     153-217: RLEDGSPRTG...CRSVEGSCGF → VRVAPGIPNP...ADLQSVLQQV
Note: No experimental confirmation available.
Isoform 3 (identifier: P01242-3)

The sequence of this isoform differs from the canonical sequence as follows:
     58-72: Missing.
Isoform 4 (identifier: P01242-4)

The sequence of this isoform differs from the canonical sequence as follows:
     151-217: MWRLEDGSPR...CRSVEGSCGF → IGWKMAAPGL...VLLQCPPALS
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2626 Ref.12
Chain27 – 217191Growth hormone variant
PRO_0000033061

Amino acid modifications

Glycosylation1661N-linked (GlcNAc...) Potential
Disulfide bond79 ↔ 191 By similarity
Disulfide bond208 ↔ 215 By similarity

Natural variations

Alternative sequence58 – 7215Missing in isoform 3.
VSP_043206
Alternative sequence151 – 21767MWRLE…GSCGF → IGWKMAAPGLGRSSISPTAS LTQNRTTMTHCSRTTGCSTA SGRTWTRSRHSCASCSAALW RAAVASSCPGGIPVTPPQCL SWSWKVLLQCPPALS in isoform 4.
VSP_043480
Alternative sequence153 – 21765RLEDG…GSCGF → VRVAPGIPNPGAPLASRDWG EKHCCPLFSSQALTQENSPY SSFPLVNPPGLSLQPGGEGG KWMNERGREQCPSAWPLLLF LHFAEAGRWQPPDWADLQSV LQQV in isoform 2.
VSP_006203
Natural variant901R → W.
Corresponds to variant rs5389 [ dbSNP | Ensembl ].
VAR_014591

Experimental info

Sequence conflict441Missing AA sequence Ref.12
Sequence conflict1091I → T in AAB59547. Ref.2
Sequence conflict1091I → T in AAB59548. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (GH-V1) [UniParc].

Last modified March 27, 2002. Version 3.
Checksum: 7B9324698E822F96

FASTA21725,000
        10         20         30         40         50         60 
MAAGSRTSLL LAFGLLCLSW LQEGSAFPTI PLSRLFDNAM LRARRLYQLA YDTYQEFEEA 

        70         80         90        100        110        120 
YILKEQKYSF LQNPQTSLCF SESIPTPSNR VKTQQKSNLE LLRISLLLIQ SWLEPVQLLR 

       130        140        150        160        170        180 
SVFANSLVYG ASDSNVYRHL KDLEEGIQTL MWRLEDGSPR TGQIFNQSYS KFDTKSHNDD 

       190        200        210 
ALLKNYGLLY CFRKDMDKVE TFLRIVQCRS VEGSCGF 

« Hide

Isoform 2 (GH-V2) [UniParc].

Checksum: 5D1C10B75BA49EC6
Show »

FASTA25628,875
Isoform 3 [UniParc].

Checksum: 38B64D011A9197C6
Show »

FASTA20223,128
Isoform 4 [UniParc].

Checksum: 14CC7F8CD75D91C8
Show »

FASTA24527,101

References

« Hide 'large scale' references
[1]"The human growth hormone gene family: nucleotide sequences show recent divergence and predict a new polypeptide hormone."
Seeburg P.H.
DNA 1:239-249(1982) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
[2]"Two distinct species of human growth hormone-variant mRNA in the human placenta predict the expression of novel growth hormone proteins."
Cooke N.E., Ray J., Emery J.G., Liebhaber S.A.
J. Biol. Chem. 263:9001-9006(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
Tissue: Placenta.
[3]"Cloning and nucleotide sequence of placental hGH-V cDNA."
Igout A., Scippo M.L., Frankenne F., Hennen G.
Arch. Int. Physiol. Biochim. 96:63-67(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[4]"The human growth hormone locus: nucleotide sequence, biology, and evolution."
Chen E.Y., Liao Y.C., Smith D.H., Barrera-Saldana H.A., Gelinas R.E., Seeburg P.H.
Genomics 4:479-497(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
[5]"Cloning of two novel growth hormone transcripts expressed in human placenta."
Boguszewski C.L., Svensson P.A., Jansson T., Clark R., Carlsson L.M.S., Carlsson B.
J. Clin. Endocrinol. Metab. 83:2878-2885(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4).
Tissue: Placenta.
[6]"Complex signatures of locus-specific selective pressures and gene conversion on human growth hormone/chorionic somatomammotropin genes."
Sedman L., Padhukasahasram B., Kelgo P., Laan M.
Hum. Mutat. 29:1181-1193(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[7]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
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. expand/collapse author list , 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.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Placenta.
[8]"Human protein factory for converting the transcriptome into an in vitro-expressed proteome."
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. expand/collapse author list , 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.
Nat. Methods 5:1011-1017(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
[9]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
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. expand/collapse author list , 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.
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[10]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. expand/collapse author list , 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
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[11]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Placenta.
[12]"Identification of placental human growth hormone as the growth hormone-V gene expression product."
Frankenne F., Scippo M.L., Van Beeumen J., Igout A., Hennen G.
J. Clin. Endocrinol. Metab. 71:15-18(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 27-57.
[13]"Growth hormone heterogeneity in human pituitary and plasma."
Baumann G.
Horm. Res. 51 Suppl. 1:2-6(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
K00470 Genomic DNA. Translation: AAA98619.1.
J03756 mRNA. Translation: AAB59547.1.
J03756 mRNA. Translation: AAB59548.1.
M38451 mRNA. Translation: AAA35891.1.
J03071 Genomic DNA. Translation: AAA52552.1.
AF006060 mRNA. Translation: AAB71828.1.
AF006061 mRNA. Translation: AAB71829.1.
EU421715 Genomic DNA. Translation: ABZ88719.1.
EU421715 Genomic DNA. Translation: ABZ88720.1.
EU421715 Genomic DNA. Translation: ABZ88721.1.
EU421715 Genomic DNA. Translation: ABZ88722.1.
AK312194 mRNA. Translation: BAG35127.1.
AB451332 mRNA. Translation: BAG70146.1.
AB451477 mRNA. Translation: BAG70291.1.
AC040958 Genomic DNA. No translation available.
CH471109 Genomic DNA. Translation: EAW94238.1.
CH471109 Genomic DNA. Translation: EAW94248.1.
CH471109 Genomic DNA. Translation: EAW94252.1.
CH471109 Genomic DNA. Translation: EAW94258.1.
BC020760 mRNA. Translation: AAH20760.1.
PIRSTHUV2. A28072.
STHUV. D32435.
RefSeqNP_002050.1. NM_002059.4.
NP_072050.1. NM_022556.3.
NP_072051.1. NM_022557.3.
NP_072052.1. NM_022558.3.
UniGeneHs.406754.
Hs.654390.

3D structure databases

ProteinModelPortalP01242.
SMRP01242. Positions 27-216.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000333157.

Proteomic databases

PaxDbP01242.
PRIDEP01242.

Protocols and materials databases

DNASU2689.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000332800; ENSP00000333157; ENSG00000136487. [P01242-2]
ENST00000423893; ENSP00000409294; ENSG00000136487. [P01242-1]
ENST00000449787; ENSP00000410618; ENSG00000136487. [P01242-3]
ENST00000456543; ENSP00000394122; ENSG00000136487. [P01242-4]
GeneID2689.
KEGGhsa:2689.
UCSCuc002jcl.2. human. [P01242-2]
uc002jcm.2. human. [P01242-4]
uc002jcn.2. human. [P01242-3]
uc002jco.2. human. [P01242-1]

Organism-specific databases

CTD2689.
GeneCardsGC17M061957.
HGNCHGNC:4262. GH2.
HPAHPA043715.
MIM139240. gene.
neXtProtNX_P01242.
PharmGKBPA28672.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG26152.
HOGENOMHOG000068443.
HOVERGENHBG011318.
KOK05438.
OMARTTMTHC.
OrthoDBEOG7F7W9X.
PhylomeDBP01242.
TreeFamTF332592.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
REACT_6900. Immune System.

Gene expression databases

BgeeP01242.
CleanExHS_GH2.
GenevestigatorP01242.

Family and domain databases

Gene3D1.20.1250.10. 1 hit.
InterProIPR009079. 4_helix_cytokine-like_core.
IPR012351. 4_helix_cytokine_core.
IPR001400. Somatotropin.
IPR018116. Somatotropin_CS.
[Graphical view]
PANTHERPTHR11417. PTHR11417. 1 hit.
PfamPF00103. Hormone_1. 1 hit.
[Graphical view]
PRINTSPR00836. SOMATOTROPIN.
SUPFAMSSF47266. SSF47266. 1 hit.
PROSITEPS00266. SOMATOTROPIN_1. 1 hit.
PS00338. SOMATOTROPIN_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGrowth_hormone_2.
GenomeRNAi2689.
NextBio10626.
PROP01242.
SOURCESearch...

Entry information

Entry nameSOM2_HUMAN
AccessionPrimary (citable) accession number: P01242
Secondary accession number(s): B1A4H5 expand/collapse secondary AC list , B1A4H7, O14643, O14644, P09587
Entry history
Integrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: March 27, 2002
Last modified: April 16, 2014
This is version 138 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM