InnateDB Protein
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IDBP-64280.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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GH1
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Protein Name
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growth hormone 1
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Synonyms
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GH; GH-N; GHN; hGH-N; IGHD1B;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000312673
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InnateDB Gene
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IDBG-543240 (GH1)
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Protein Structure
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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.
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Subcellular Localization |
Secreted.
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Disease Associations |
Growth hormone deficiency, isolated, 1A (IGHD1A) [MIM:262400]: An autosomal recessive, severe deficiency of growth hormone leading to dwarfism. Patients often develop antibodies to administered growth hormone. {ECO:0000269PubMed:8364549}. Note=The disease is caused by mutations affecting the gene represented in this entry.Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781]: An autosomal recessive deficiency of growth hormone leading to short stature. Patients have low but detectable levels of growth hormone, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy. {ECO:0000269PubMed:12655557}. Note=The disease is caused by mutations affecting the gene represented in this entry.Kowarski syndrome (KWKS) [MIM:262650]: A syndrome clinically characterized by short stature associated with bioinactive growth hormone, normal or slightly increased growth hormone secretion, pathologically low insulin-like growth factor 1 levels, and normal catch-up growth on growth hormone replacement therapy. {ECO:0000269PubMed:8552145, ECO:0000269PubMed:9276733}. Note=The disease is caused by mutations affecting the gene represented in this entry.Growth hormone deficiency, isolated, 2 (IGHD2) [MIM:173100]: An autosomal dominant deficiency of growth hormone leading to short stature. Clinical severity is variable. Patients have a positive response and immunologic tolerance to growth hormone therapy. {ECO:0000269PubMed:11502836, ECO:0000269PubMed:9152628}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
10
[view]
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Protein-Protein |
10
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
GO:0007259
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JAK-STAT cascade
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GO:0010535
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positive regulation of activation of JAK2 kinase activity
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GO:0014068
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positive regulation of phosphatidylinositol 3-kinase signaling
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GO:0015758
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glucose transport
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GO:0032355
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response to estradiol
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GO:0040018
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positive regulation of multicellular organism growth
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GO:0042517
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positive regulation of tyrosine phosphorylation of Stat3 protein
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GO:0042523
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positive regulation of tyrosine phosphorylation of Stat5 protein
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GO:0043406
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positive regulation of MAP kinase activity
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GO:0043568
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positive regulation of insulin-like growth factor receptor signaling pathway
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GO:0046427
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positive regulation of JAK-STAT cascade
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GO:0050731
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positive regulation of peptidyl-tyrosine phosphorylation
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GO:0060396
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growth hormone receptor signaling pathway
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GO:0060397
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JAK-STAT cascade involved in growth hormone signaling pathway
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GO:0070977
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bone maturation
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Cellular Component |
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PDB ID |
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InterPro |
IPR001400
Somatotropin hormone
IPR009079
Four-helical cytokine-like, core
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PFAM |
PF00103
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PRINTS |
PR00836
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P01241
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PhosphoSite |
PhosphoSite-P01241
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TrEMBL |
B1A4G6
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UniProt Splice Variant |
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Entrez Gene |
2688
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UniGene |
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RefSeq |
NP_000506
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HUGO |
HGNC:4261
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OMIM |
139250
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CCDS |
CCDS11653
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HPRD |
00751
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IMGT |
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EMBL |
AC127029
AF110644
AF185611
BC062475
BC075012
BC075013
BC090045
CD106566
CH471109
EU421712
J03071
M13438
M14398
V00519
V00520
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GenPept |
AAA52549
AAA52554
AAA98618
AAD48584
AAG09699
AAH62475
AAH75012
AAH75013
AAH90045
ABZ88711
ABZ88713
CAA23778
CAA23779
EAW94233
EAW94251
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