• Gene id: 2688

Gene Summary

• Gene Symbol: GH1   Gene   UCSC   Ensembl
• Aliases: GH, GH-N, GHB5, GHN, IGHD1B, hGH-N
• Gene name: growth hormone 1
• Alternate names: somatotropin, growth hormone B5, pituitary growth hormone,
• Gene location: 17q23.3 (63918851: 63917192)     Exons: 5     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 139250

Protein Summary

• Protein general information: P01241  
  • Name: Somatotropin (Growth hormone) (GH) (GH N) (Growth hormone 1) (Pituitary growth hormone)
  • Length: 217  
  • Mass: 24,847
• Sequence:

  MATGSRTSLLLAFGLLCLPWLQEGSAFPTIPLSRLFDNAMLRAHRLHQLAFDTYQEFEEAYIPKEQKYSFLQNPQ
  TSLCFSESIPTPSNREETQQKSNLELLRISLLLIQSWLEPVQFLRSVFANSLVYGASDSNVYDLLKDLEEGIQTL
  MGRLEDGSPRTGQIFKQTYSKFDTNSHNDDALLKNYGLLYCFRKDMDKVETFLRIVQCRSVEGSCGF

• Structural information:
  • Interpro: IPR009079  IPR001400  IPR018116  
  • Prosite: PS00266 PS00338
  • PDB: 1A22 1AXI 1BP3 1HGU 1HUW 1HWG 1HWH 1KF9 3HHR
  • PDBsum: 1A22 1AXI 1BP3 1HGU 1HUW 1HWG 1HWH 1KF9 3HHR
  • DIP: 1022
  • STRING: ENSP00000312673
• Other Databases: GeneCards:  GH1  Malacards:  GH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005131	growth hormone receptor binding	IPI	molecular function
GO:0005131	growth hormone receptor binding	IPI	molecular function
GO:0005131	growth hormone receptor binding	IPI	molecular function
GO:0005131	growth hormone receptor binding	IDA	molecular function
GO:0005148	prolactin receptor binding	IDA	molecular function
GO:0005148	prolactin receptor binding	IPI	molecular function
GO:0005179	hormone activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005622	intracellular	IEA	cellular component
GO:0007259	JAK-STAT cascade	IDA	biological process
GO:0008083	growth factor activity	IPI	molecular function
GO:0010535	positive regulation of activation of JAK2 kinase activity	IDA	biological process
GO:0010535	positive regulation of activation of JAK2 kinase activity	IDA	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	IDA	biological process
GO:0015758	glucose transport	IDA	biological process
GO:0032355	response to estradiol	IDA	biological process
GO:0040018	positive regulation of multicellular organism growth	IDA	biological process
GO:0040018	positive regulation of multicellular organism growth	IDA	biological process
GO:0040018	positive regulation of multicellular organism growth	IMP	biological process
GO:0042517	positive regulation of tyrosine phosphorylation of Stat3 protein	IDA	biological process
GO:0042517	positive regulation of tyrosine phosphorylation of Stat3 protein	IDA	biological process
GO:0042523	positive regulation of tyrosine phosphorylation of Stat5 protein	IDA	biological process
GO:0042523	positive regulation of tyrosine phosphorylation of Stat5 protein	IDA	biological process
GO:0043406	positive regulation of MAP kinase activity	TAS	biological process
GO:0043568	positive regulation of insulin-like growth factor receptor signaling pathway	IDA	biological process
GO:0046427	positive regulation of JAK-STAT cascade	IDA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0060396	growth hormone receptor signaling pathway	IDA	biological process
GO:0060397	JAK-STAT cascade involved in growth hormone signaling pathway	TAS	biological process
GO:0070977	bone maturation	IDA	biological process
GO:0002092	positive regulation of receptor internalization	IDA	biological process
GO:0005131	growth hormone receptor binding	IPI	molecular function
GO:0005131	growth hormone receptor binding	IPI	molecular function
GO:0005131	growth hormone receptor binding	IPI	molecular function
GO:0005131	growth hormone receptor binding	IDA	molecular function
GO:0005148	prolactin receptor binding	IDA	molecular function
GO:0005148	prolactin receptor binding	IPI	molecular function
GO:0005179	hormone activity	IEA	molecular function
GO:0005179	hormone activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005622	intracellular	IEA	cellular component
GO:0007259	JAK-STAT cascade	IDA	biological process
GO:0008083	growth factor activity	IPI	molecular function
GO:0010535	positive regulation of activation of JAK2 kinase activity	IDA	biological process
GO:0010535	positive regulation of activation of JAK2 kinase activity	IDA	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	IDA	biological process
GO:0015758	glucose transport	IDA	biological process
GO:0032355	response to estradiol	IDA	biological process
GO:0040018	positive regulation of multicellular organism growth	IDA	biological process
GO:0040018	positive regulation of multicellular organism growth	IDA	biological process
GO:0040018	positive regulation of multicellular organism growth	IMP	biological process
GO:0042517	positive regulation of tyrosine phosphorylation of Stat3 protein	IDA	biological process
GO:0042517	positive regulation of tyrosine phosphorylation of Stat3 protein	IDA	biological process
GO:0042523	positive regulation of tyrosine phosphorylation of Stat5 protein	IDA	biological process
GO:0042523	positive regulation of tyrosine phosphorylation of Stat5 protein	IDA	biological process
GO:0043406	positive regulation of MAP kinase activity	TAS	biological process
GO:0043568	positive regulation of insulin-like growth factor receptor signaling pathway	IDA	biological process
GO:0046427	positive regulation of JAK-STAT cascade	IDA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0060396	growth hormone receptor signaling pathway	IDA	biological process
GO:0060397	JAK-STAT cascade involved in growth hormone signaling pathway	TAS	biological process
GO:0070977	bone maturation	IDA	biological process
GO:0002092	positive regulation of receptor internalization	IDA	biological process
GO:0005131	growth hormone receptor binding	IPI	molecular function
GO:0005131	growth hormone receptor binding	IPI	molecular function
GO:0005131	growth hormone receptor binding	IPI	molecular function
GO:0005131	growth hormone receptor binding	IDA	molecular function
GO:0005148	prolactin receptor binding	IDA	molecular function
GO:0005148	prolactin receptor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0007259	JAK-STAT cascade	IDA	biological process
GO:0008083	growth factor activity	IPI	molecular function
GO:0010535	positive regulation of activation of JAK2 kinase activity	IDA	biological process
GO:0010535	positive regulation of activation of JAK2 kinase activity	IDA	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	IDA	biological process
GO:0015758	glucose transport	IDA	biological process
GO:0032355	response to estradiol	IDA	biological process
GO:0040018	positive regulation of multicellular organism growth	IDA	biological process
GO:0040018	positive regulation of multicellular organism growth	IDA	biological process
GO:0040018	positive regulation of multicellular organism growth	IMP	biological process
GO:0042517	positive regulation of tyrosine phosphorylation of Stat3 protein	IDA	biological process
GO:0042517	positive regulation of tyrosine phosphorylation of Stat3 protein	IDA	biological process
GO:0042523	positive regulation of tyrosine phosphorylation of Stat5 protein	IDA	biological process
GO:0042523	positive regulation of tyrosine phosphorylation of Stat5 protein	IDA	biological process
GO:0043406	positive regulation of MAP kinase activity	TAS	biological process
GO:0043568	positive regulation of insulin-like growth factor receptor signaling pathway	IDA	biological process
GO:0046427	positive regulation of JAK-STAT cascade	IDA	biological process
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0060396	growth hormone receptor signaling pathway	IDA	biological process
GO:0060397	JAK-STAT cascade involved in growth hormone signaling pathway	TAS	biological process
GO:0070977	bone maturation	IDA	biological process
GO:0002092	positive regulation of receptor internalization	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04151	PI3K-Akt signaling pathway
hsa04080	Neuroactive ligand-receptor interaction
hsa04060	Cytokine-cytokine receptor interaction

Diseases

Associated diseases	References
Cancer	GAD: 19543094
Cancer (Adenocarcinoma)	GAD: 20403354
Cancer (Adenoma)	GAD: 20580999
Cancer (colorectal)	GAD: 11904318
Cancer (esophageal)	GAD: 20453000
Cancer (lymphoma)	GAD: 18636124
Cancer (testicular)	GAD: 19077426
Cancer (breast)	GAD: 16214911
Hypertension	GAD: 16572267
Brain ischemia	GAD: 18624627
Intrauterine growth retardation	GAD: 15691369
Pituitary dwarfism	KEGG: H00254
Obesity	GAD: 20734064
Diabetes	GAD: 17211558
Scoliosis	GAD: 19094740
Bone diseases	GAD: 15472182
Alzheimer's disease	GAD: 19141999
Schizophrenia	GAD: 17044098
Chronic renal failure	GAD: 21085059
Kidney diseases	GAD: 17635077
Primary infertility	INFBASE: 1730338
Polycystic ovary syndrome (PCOS)	INFBASE: 17852425
Erectile dysfunction	MIK: 11927337
Male erectile capability	MIK: 11927337
Male factor infertility	MIK: 8345085
Asthenozoospermia	MIK: 8557135
Oligozoospermia	MIK: 8557135
Maturation arrest	MIK: 8345085
Hypopituitarism	KEGG: H01700
Dwarfism	GAD: 20190537
Isolated GH deficiency (IGHD)	GAD: 18785993
Erectile dysfunction	MIK: 11927337
Male erectile capability	MIK: 11927337
Maturation arrest of spermatogenesis	MIK: 8345085
Oligozoospermia	MIK: 8557135
Asthenozoospermia	MIK: 8557135
Male subfertility	MIK: 8557135

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
11927337	Erectile dysfunction			80 (35 healthy controls, 45 patients with erectile dysfunction)	Male infertility
11927337	Male erectile capability			80 (35 adult men, 45 patients with erectile dysfunction )	Male infertiltiy
8557135	Oligozoospermia, asthenozoospermic, male subfertility			27 (9 oligozoospermic patients, 9 asthenozoospermic patients, 9 age- and body mass index-matched fertile males)	Male infertiltiy
8345085	Maturation arrest of spermatogenesis			21 (11 azoospermic patients with histological evidence of maturation arrest, 10 healthy fertile men)	Male infertility	GH