GH1 (growth hormone 1)

Gene

• Entrez ID: 2688
• Gene name: Growth hormone 1
• Gene symbol: GH1
• Synonyms: GH, GH-N, GHB5, GHN, IGHD1A, IGHD1B, IGHD2, hGH-N
• Chromosome: 17
• Chromosome location: 17q23.3
• 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs111957225	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs137853219	C>T	Pathogenic	Coding sequence variant, stop gained
rs140576665	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1018380	hsa-miR-3150a-3p	CLIP-seq
MIRT1018381	hsa-miR-3175	CLIP-seq
MIRT1018382	hsa-miR-4640-5p	CLIP-seq
MIRT1018383	hsa-miR-4667-5p	CLIP-seq
MIRT1018384	hsa-miR-4700-5p	CLIP-seq
MIRT1018385	hsa-miR-4726-5p	CLIP-seq
MIRT1018386	hsa-miR-4728-5p	CLIP-seq
MIRT1018387	hsa-miR-4768-3p	CLIP-seq
MIRT1018388	hsa-miR-665	CLIP-seq
MIRT1018389	hsa-miR-939	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HNF4A	Repression	17991764
POU1F1	Activation	16061841;7529501
POU1F1	Unknown	11081207;11874696;15998782;17456792;7608249;7877625;9207961

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002092	Process	Positive regulation of receptor internalization	IDA	9360546
GO:0005131	Function	Growth hormone receptor binding	IBA	21873635
GO:0005131	Function	Growth hormone receptor binding	IDA	6303755
GO:0005131	Function	Growth hormone receptor binding	IPI	1549776, 2825030, 8943276, 9571026
GO:0005148	Function	Prolactin receptor binding	IDA	10890569
GO:0005148	Function	Prolactin receptor binding	IPI	7984244
GO:0005179	Function	Hormone activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	8943276, 9353194, 31279174
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	11549663
GO:0008083	Function	Growth factor activity	IBA	21873635
GO:0008083	Function	Growth factor activity	IPI	9360546
GO:0010536	Process	Positive regulation of activation of Janus kinase activity	IDA	8063815, 12552091
GO:0010828	Process	Positive regulation of glucose transmembrane transport	IDA	9144201
GO:0014068	Process	Positive regulation of phosphatidylinositol 3-kinase signaling	IDA	7782332
GO:0031667	Process	Response to nutrient levels	IBA	21873635
GO:0031904	Component	Endosome lumen	TAS
GO:0032355	Process	Response to estradiol	IDA	12552091
GO:0040018	Process	Positive regulation of multicellular organism growth	IDA	7565946, 20110402
GO:0040018	Process	Positive regulation of multicellular organism growth	IMP	8496314
GO:0042531	Process	Positive regulation of tyrosine phosphorylation of STAT protein	IBA	21873635
GO:0042531	Process	Positive regulation of tyrosine phosphorylation of STAT protein	IDA	8923468, 12552091
GO:0043406	Process	Positive regulation of MAP kinase activity	TAS	8063815
GO:0043568	Process	Positive regulation of insulin-like growth factor receptor signaling pathway	IDA	7565946
GO:0045927	Process	Positive regulation of growth	IBA	21873635
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IBA	21873635
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IDA	8063815, 8923468
GO:0046872	Function	Metal ion binding	IEA
GO:0048513	Process	Animal organ development	IBA	21873635
GO:0050731	Process	Positive regulation of peptidyl-tyrosine phosphorylation	IDA	7782332
GO:0060396	Process	Growth hormone receptor signaling pathway	IBA	21873635
GO:0060396	Process	Growth hormone receptor signaling pathway	IDA	8063815
GO:0060397	Process	Growth hormone receptor signaling pathway via JAK-STAT	TAS
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	28327460
GO:0070195	Component	Growth hormone receptor complex	IDA	1549776, 8943276, 9571026
GO:0070977	Process	Bone maturation	IDA	20110402

Other IDs

• MIM: 139250
• HGNC: 4261
• e!Ensembl: ENSG00000259384

Protein

• UniProt ID: P01241
• Protein name: Somatotropin (Growth hormone) (GH) (GH-N) (Growth hormone 1) (Pituitary growth hormone)
• Protein 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 IGF1. It stimulates both the differentiation and proliferation of myoblasts. It also stimulates amino aci
• PDB: 1A22, 1AXI, 1BP3, 1HGU, 1HUW, 1HWG, 1HWH, 1KF9, 3HHR, 6QIO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00103	Hormone_1	9 → 215	Somatotropin hormone family	Domain

• Sequence:

  MATGSRTSLLLAFGLLCLPWLQEGSAFPTIPLSRLFDNAMLRAHRLHQLAFDTYQEFEEA
  YIPKEQKYSFLQNPQTSLCFSESIPTPSNREETQQKSNLELLRISLLLIQSWLEPVQFLR
  SVFANSLVYGASDSNVYDLLKDLEEGIQTLMGRLEDGSPRTGQIFKQTYSKFDTNSHNDD
  ALLKNYGLLYCFRKDMDKVETFLRIVQCRSVEGSCGF

• Sequence length: 217

Pathways

KEGG:

Cytokine-cytokine receptor interaction
Neuroactive ligand-receptor interaction
Hormone signaling
PI3K-Akt signaling pathway
JAK-STAT signaling pathway
Growth hormone synthesis, secretion and action

Reactome:

Prolactin receptor signaling
Synthesis, secretion, and deacylation of Ghrelin
Growth hormone receptor signaling

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Isolated growth hormone deficiency	Isolated growth hormone deficiency type IA, Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type II, Isolated Growth Hormone Deficiency, Type IB, Isolated Growth Hormone Deficiency, Type II, ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV, ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V	rs797044449, rs863223308, rs121918117, rs2302022, rs121918118, rs121918119, rs121918120, rs121918121, rs2128596101, rs483352872, rs200848306, rs606231412, rs606231413, rs779187338, rs370930012, rs918108896, rs1562606449	19762173, 12655557, 22139958, 22139958, 19762173, 11502836, 9152628, 22139958, 19762173
Isolated somatotropin deficiency	Isolated somatotropin deficiency	rs797044450, rs71640277, rs863223306, rs2144738731, rs863223307, rs2144739370, rs863223309, rs863223310, rs137853223, rs2144739380, rs2144739391
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840	8923850
Pituitary adenoma	Pituitary Adenoma	rs5030861, rs104894194, rs121908356, rs121908347, rs727502931, rs121908348, rs121908349, rs111033271, rs121908351, rs121917839, rs121917840, rs587776681, rs193922688, rs121917841, rs587776682, rs587776683, rs121917842, rs121917843, rs121917844, rs121917845, rs11554273, rs121913495, rs121913494, rs137854533, rs140016178, rs397517323, rs397517327, rs397517329, rs397517341, rs397517342, rs183431253, rs397517350, rs370983472, rs397517367, rs794726693, rs727502919, rs766673446, rs786204663, rs1556379508, rs876657754, rs773464867, rs878853337, rs886037871, rs762529663, rs1057517027, rs1057517041, rs1057516832, rs1057517424, rs1057516846, rs1057524265, rs1060499789, rs750803248, rs1064797071, rs756147087, rs758382198, rs750880909, rs1554877806, rs769433759, rs1474524543, rs866435331, rs936479651, rs146918863, rs1554182514, rs1436089021, rs1554182507, rs1554182481, rs1554182645, rs1554182405, rs1554182632, rs747955135, rs745571683, rs1190307769, rs1564808024, rs1214465435, rs1589424694, rs1200012430, rs1377982927, rs1230303971, rs750027965, rs1292050472, rs1278603247, rs1862873659, rs1338446830, rs771766431, rs759981467, rs780917129, rs1221464948, rs1166948274, rs754876029, rs762805265	19420816
Kowarski syndrome	Kowarski syndrome, Short stature due to growth hormone qualitative anomaly	rs137853220, rs137853221, rs137853222	8552145, 17519310, 9276733, 15713716
Somatotroph adenoma	Growth Hormone-Secreting Pituitary Adenoma, Somatotrophinoma, Familial	rs104894194, rs104894195, rs267606567, rs267606580, rs267606559, rs121908356, rs121908357, rs267606541, rs104895073, rs267606560, rs267606566, rs267606568, rs267606569, rs267606578, rs267606579, rs972128957, rs1565635212	1611713, 2042694

Unknown
Disease name	Disease term	dbSNP ID	References
Acromegaly	Acromegaly		6237480, 7440347, 1682667, 3059976, 18388193, 9186818, 18381583
Azotemia	Azotemia		14728886
Cardiovascular diseases	Cardiovascular Diseases		17324600
Dwarfism	Dwarfism
Gonadal dysgenesis	Gonadal Dysgenesis, 45,X		15151564
Hypoglycemia	Hypoglycemia
Mental depression	Mental Depression, Depressive disorder	rs587778876, rs587778877	10465356, 8951963, 9673456, 8951963, 10465356, 9673456
Pituitary dwarfism	Pituitary dwarfism, PITUITARY DWARFISM I		22139958, 19762173
Pituitary neoplasms	Pituitary Neoplasms		19420816
Pituitary carcinoma	Pituitary carcinoma		19420816
Polycythemia	Polycythemia		15161484
Somatotropin deficiency	Somatotropin deficiency
Turner syndrome	Turner Syndrome, Bonnevie-Ullrich Syndrome		15151564