GH1: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

GH1

Aliases

GH, GH-N, GHB5, GHN, IGHD1A, IGHD1B, IGHD2, hGH-N

Entrez Gene ID

2688

Gene Name

Growth hormone 1

Chromosomal Location

17q23.3

HGNC ID

HGNC:4261

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]

RefSeq DNA

NG_011676.1

RefSeq mRNA

NM_000515.5, NM_022559.4, NM_022560.4

e!Ensembl

Gene	ENSG00000259384
Transcript	ENST00000351388, ENST00000458650, ENST00000323322, ENST00000342364, ENST00000617086
Protein	ENSP00000343791, ENSP00000408486, ENSP00000312673, ENSP00000339278, ENSP00000481276

Gene Ontology (GO)

Show/Hide all(34 )

GO ID	Ontology	Function	Evidence	Reference
GO:0002092	Biological process	Positive regulation of receptor internalization	IDA	9360546
GO:0010536	Biological process	Positive regulation of activation of Janus kinase activity	IDA	8063815, 12552091
GO:0010828	Biological process	Positive regulation of glucose transmembrane transport	IDA	9144201
GO:0014068	Biological process	Positive regulation of phosphatidylinositol 3-kinase signaling	IDA	7782332
GO:0031667	Biological process	Response to nutrient levels	IBA	21873635
GO:0032355	Biological process	Response to estradiol	IDA	12552091
GO:0040018	Biological process	Positive regulation of multicellular organism growth	IDA	7565946, 20110402
GO:0040018	Biological process	Positive regulation of multicellular organism growth	IMP	8496314
GO:0042531	Biological process	Positive regulation of tyrosine phosphorylation of STAT protein	IBA	21873635
GO:0042531	Biological process	Positive regulation of tyrosine phosphorylation of STAT protein	IDA	8923468, 12552091
GO:0043406	Biological process	Positive regulation of MAP kinase activity	TAS	8063815
GO:0043568	Biological process	Positive regulation of insulin-like growth factor receptor signaling pathway	IDA	7565946
GO:0045927	Biological process	Positive regulation of growth	IBA	21873635
GO:0046427	Biological process	Positive regulation of JAK-STAT cascade	IBA	21873635
GO:0046427	Biological process	Positive regulation of JAK-STAT cascade	IDA	8063815, 8923468
GO:0048513	Biological process	Animal organ development	IBA	21873635
GO:0050731	Biological process	Positive regulation of peptidyl-tyrosine phosphorylation	IBA	21873635
GO:0050731	Biological process	Positive regulation of peptidyl-tyrosine phosphorylation	IDA	7782332
GO:0060396	Biological process	Growth hormone receptor signaling pathway	IBA	21873635
GO:0060396	Biological process	Growth hormone receptor signaling pathway	IDA	8063815
GO:0070977	Biological process	Bone maturation	IDA	20110402
GO:0005615	Cellular component	Extracellular space	IBA	21873635
GO:0005615	Cellular component	Extracellular space	IDA	11549663
GO:0062023	Cellular component	Collagen-containing extracellular matrix	HDA	28327460
GO:0070195	Cellular component	Growth hormone receptor complex	IDA	1549776, 8943276, 9571026
GO:0005131	Molecular function	Growth hormone receptor binding	IBA	21873635
GO:0005131	Molecular function	Growth hormone receptor binding	IDA	6303755
GO:0005131	Molecular function	Growth hormone receptor binding	IPI	1549776, 2825030, 8943276, 9571026
GO:0005148	Molecular function	Prolactin receptor binding	IDA	10890569
GO:0005148	Molecular function	Prolactin receptor binding	IPI	7984244
GO:0005179	Molecular function	Hormone activity	IBA	21873635
GO:0005515	Molecular function	Protein binding	IPI	8943276, 9353194
GO:0008083	Molecular function	Growth factor activity	IBA	21873635
GO:0008083	Molecular function	Growth factor activity	IPI	9360546

Protein Information

Protein Name

Somatotropin, growth hormone B5, pituitary growth hormone

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

Refseq Proteins

NP_000506.2, NP_072053.1, NP_072054.1

UniProt

P01241

PDB

1A22, 1AXI, 1HWG, 1HWH, 1KF9, 3HHR, 1BP3, 1HGU, 1HUW

Pfam

Pfam Accession	Pfam ID
PF00103	Hormone_1