GH1
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| growth hormone 1 | MIM:139250 | Ensembl:ENSG00000259384 | HGNC:HGNC:4261 | PA171 | 17q23.3 |
GO terms in GH1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | TAS | GO:0005576 | extracellular region |
| CC | IBA | GO:0005615 | extracellular space |
| CC | IDA | GO:0005615 | extracellular space |
| CC | TAS | GO:0031904 | endosome lumen |
| CC | IDA | GO:0070195 | growth hormone receptor complex |
| BP | IDA | GO:0002092 | positive regulation of receptor internalization |
| BP | IEA | GO:0010469 | regulation of signaling receptor activity |
| BP | IDA | GO:0010536 | positive regulation of activation of Janus kinase activity |
| BP | IDA | GO:0010828 | positive regulation of glucose transmembrane transport |
| BP | IDA | GO:0014068 | positive regulation of phosphatidylinositol 3-kinase signaling |
| BP | IBA | GO:0031667 | response to nutrient levels |
| BP | IDA | GO:0032355 | response to estradiol |
| BP | IDA | GO:0040018 | positive regulation of multicellular organism growth |
| BP | IMP | GO:0040018 | positive regulation of multicellular organism growth |
| BP | IBA | GO:0042531 | positive regulation of tyrosine phosphorylation of STAT protein |
| BP | IDA | GO:0042531 | positive regulation of tyrosine phosphorylation of STAT protein |
| BP | TAS | GO:0043406 | positive regulation of MAP kinase activity |
| BP | IDA | GO:0043568 | positive regulation of insulin-like growth factor receptor signaling pathway |
| BP | IBA | GO:0045927 | positive regulation of growth |
| BP | IBA | GO:0046427 | positive regulation of JAK-STAT cascade |
| BP | IDA | GO:0046427 | positive regulation of JAK-STAT cascade |
| BP | IBA | GO:0048513 | animal organ development |
| BP | IBA | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation |
| BP | IDA | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation |
| BP | IBA | GO:0060396 | growth hormone receptor signaling pathway |
| BP | IDA | GO:0060396 | growth hormone receptor signaling pathway |
| BP | TAS | GO:0060397 | JAK-STAT cascade involved in growth hormone signaling pathway |
| BP | IDA | GO:0070977 | bone maturation |
| MF | IBA | GO:0005131 | growth hormone receptor binding |
| MF | IDA | GO:0005131 | growth hormone receptor binding |
| MF | IPI | GO:0005131 | growth hormone receptor binding |
| MF | IDA | GO:0005148 | prolactin receptor binding |
| MF | IPI | GO:0005148 | prolactin receptor binding |
| MF | IBA | GO:0005179 | hormone activity |
| MF | IEA | GO:0005179 | hormone activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0008083 | growth factor activity |
| MF | IPI | GO:0008083 | growth factor activity |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | IBA | GO:0070186 | growth hormone activity |
Gene expression in normal tissue: GH1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in GH1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP236 | Adipogenesis |
| wikipathways | WP4172 | PI3K-Akt Signaling Pathway |
| wikipathways | WP474 | Endochondral Ossification |
| kegg | hsa04060 | Cytokine-cytokine receptor interaction - Homo sapiens (human) |
| kegg | hsa04080 | Neuroactive ligand-receptor interaction - Homo sapiens (human) |
| kegg | hsa04151 | PI3K-Akt signaling pathway - Homo sapiens (human) |
| kegg | hsa04630 | Jak-STAT signaling pathway - Homo sapiens (human) |
| biocarta | aktpathway | akt signaling pathway |
| biocarta | eif4pathway | regulation of eif-4e and p70s6 kinase |
| biocarta | ghpathway | growth hormone signaling pathway |
| biocarta | mtorpathway | mtor signaling pathway |
| biocarta | tffpathway | trefoil factors initiate mucosal healing |
| reactome | R-HSA-1170546 | Prolactin receptor signaling |
| reactome | R-HSA-1170546 | Prolactin receptor signaling |
| reactome | R-HSA-1280215 | Cytokine Signaling in Immune system |
| reactome | R-HSA-1280215 | Cytokine Signaling in Immune system |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-2980736 | Peptide hormone metabolism |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-422085 | Synthesis, secretion, and deacylation of Ghrelin |
| reactome | R-HSA-982772 | Growth hormone receptor signaling |
| reactome | R-HSA-982772 | Growth hormone receptor signaling |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD137 | Indisulam | 6 |
| iGMDRD474 | Avrainvillamide | 3 |
| iGMDRD121 | GMX1778 | 3 |
| iGMDRD6 | AM-580 | 3 |
| iGMDRD870 | BRD63610 | 3 |
| iGMDRD188 | Piperlongumine | 6 |
| iGMDRD100 | Zebularine | 3 |
| iGMDRD67 | PENFLURIDOL | 3 |
| iGMDRD872 | BRD7137 | 3 |
| iGMDRD882 | CIL41 | 3 |
| iGMDRD577 | BIX01294 | 6 |
| iGMDRD451 | Serdemetan | 3 |
| iGMDRD889 | Compound 7d-cis | 3 |
| iGMDRD446 | LY 2183240 | 3 |
| iGMDRD341 | Triacsin c | 3 |
| iGMDRD280 | CYTOCHALASIN B | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in GH1
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