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 |
|---|---|---|---|---|---|
Namegrowth hormone 1 OMIM IDMIM:139250 Ensembl IDEnsembl:ENSG00000259384 HGNC IDHGNC:HGNC:4261 PHARMGKB IDPA171 Map Location17q23.3 | |||||
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 |
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) |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in GH1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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