GH1

Gene Information
 
Gene Symbol
GH1
 
Aliases
GH, GH-N, GHN, IGHD1B, hGH-N
 
Entrez Gene ID
 
Gene Name
Growth hormone 1
 
Chromosomal Location
17q22-q24
 
HGNC ID
 
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)
 
GeneCards ID
 
UniGene
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0002092 Biological process Positive regulation of receptor internalization IDA 9360546
GO:0007259 Biological process JAK-STAT cascade IDA 8063815
GO:0010535 Biological process Positive regulation of activation of JAK2 kinase activity IDA 12552091
GO:0014068 Biological process Positive regulation of phosphatidylinositol 3-kinase signaling IDA 7782332
GO:0015758 Biological process Glucose transport IDA 9144201
Protein Information
 
Protein Name
Somatotropin
 
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
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00103 Hormone_1 Somatotropin hormone family
 
KEGG
 
OMIM
 
Phenotype MIM ID

Associated Diseases

Diseases References
Acromegaly 10427158, 16625850, 10197081, 11701684, 15080775, 17431794, 11232010, 7991070, 19336510, 9390305, 16645012, 11549676, 8127416, 16575760, 1715247, 11681536, 8586028, 12739738, 8959079, 16625851, 16114283, 14764777, 16046586, 8126120, 15519253, 15497657, 18524797, 12608933, 8137516, 17573420, 16625852, 1363409, 10468985, 11078980, 18248639, 17062887, 15817912, 9364247, 7519529, 8038903, 8013941, 1569148, 19491373, 12501974, 8706295, 17077948, 19246978, 18401209, 12727973, 11936466, 10971110, 8530632, 17530416, 15935982, 1980333, 17036195, 16828406, 15634715, 11167923, 8317187, 1281259, 8531896, 14506078, 12388920, 11397887, 10871160, 10435849, 1674920, 20215398, 19094074, 18349062, 17437512, 8050122, 1902962, 14713276, 15497658, 12727951, 11318782, 10831175, 9348175, 8548933, 7533774, 7525123, 19439509, 16926522, 15163338, 7955439, 11932303, 11318788, 1713220, 8421204, 7704960, 10195376, 10971448, 1352308, 1726836, 2311510, 19880791, 19494714
Acth deficiency 10770221, 9828916, 17132747, 11531924, 11701703, 17527005, 12717343, 19549748, 18001199, 12914740
Acth syndrome ectopic 9876339
Anorexia nervosa 9231048, 10848875, 8586028, 2115046, 15104562, 15998770, 10890176, 16114274, 18436706, 19926712, 15070919, 2129311, 20375207, 17339748, 9920101, 15497657, 9258804, 11193873
Cancer (choriocarcinoma) 7515000, 1708334, 8052267
   
References
 
Primary:

[Effect of growth hormone on the outcome of ovulation induction in patients with polycystic ovary syndrome].

Wang Y, Li M, Yang C
Department of Obstetric and Gynecology, Third Hospital, Peking University, Beijing 100083, China.
Zhonghua Fu Chan Ke Za Zhi. 2001 Jan;36(1):36-9.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
 
 
 
Related 
13 controls, 15 patients with PCOS 
Our findings suggest that the cause of susceptibility for GH secretion to be suppressed after glucose loading in non-obese PCOSpatients may be hyperandrogenemia 
INS, IGF-1 
 
 
 
Direct 
Women within the reproductive age range (21-43 years) with active acromegaly 
PCO and PCOSP are relatively common in women with acromegaly and may account for some of the symptoms related to gonadal dysfunction irrespective of the size of the pituitary tumour. It is likely that IGF-1 alone or in combination with GH and/or insulin resistance may be involved. 

 

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