| URN | urn:agi-llid:2688 |
|---|---|
| Name | GH1 |
| Description | growth hormone 1 |
| Connectivity | 1594 |
| Notes | 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] |
| Swiss-Prot Accession | B1A4G6 |
|---|---|
| P01241 | |
| B1A4G7 | |
| A6NEF6 | |
| B1A4G9 | |
| B1A4H0 | |
| Q6IYF0 | |
| Q6IYF1 |
| Unigene ID | Hs.655229 |
|---|
| KEGG ID | hsa:2688 |
|---|
| Swiss-Prot ID | SOMA_HUMAN |
|---|---|
| A6NEF6_HUMAN | |
| B1A4G6_HUMAN | |
| B1A4G7_HUMAN | |
| B1A4G9_HUMAN | |
| B1A4H0_HUMAN |
| Cell Localization | Extracellular |
|---|
| GO ID | 0008083 |
|---|---|
| 0070186 | |
| 0005131 | |
| 0005148 | |
| 0005515 | |
| 0015758 | |
| 0060396 | |
| 0046427 | |
| 0043406 | |
| 0010535 | |
| 0043568 | |
| 0040018 | |
| 0050731 | |
| 0014068 | |
| 0002092 | |
| 0042517 | |
| 0042523 | |
| 0032355 | |
| 0005576 | |
| 0005615 |
| Pathway | GHR -> NF-kB signaling |
|---|---|
| GHR -> ELK-SRF/MYC signaling | |
| ProlactinR -> STAT signaling | |
| GHR -> STAT signaling | |
| VDR Targets |
| Ariadne Ontology | Cytokine |
|---|
| GO Molecular Function | protein binding |
|---|---|
| growth factor activity | |
| prolactin receptor binding | |
| growth hormone receptor binding | |
| growth hormone activity |
| Hugo ID | 4261 |
|---|
| GO Cellular Component | extracellular region |
|---|---|
| extracellular space |
| Human chromosome position | 17q24.2 |
|---|
| GO Biological Process | positive regulation of insulin-like growth factor receptor signaling pathway |
|---|---|
| positive regulation of phosphoinositide 3-kinase cascade | |
| positive regulation of JAK-STAT cascade | |
| positive regulation of tyrosine phosphorylation of Stat3 protein | |
| positive regulation of tyrosine phosphorylation of Stat5 protein | |
| positive regulation of receptor internalization | |
| positive regulation of peptidyl-tyrosine phosphorylation | |
| positive regulation of activation of JAK2 kinase activity | |
| positive regulation of multicellular organism growth | |
| positive regulation of MAP kinase activity | |
| growth hormone receptor signaling pathway | |
| glucose transport | |
| response to estradiol stimulus |
| Group | Cytokine |
|---|---|
| extracellular region | |
| extracellular space | |
| protein binding | |
| growth factor activity | |
| prolactin receptor binding | |
| growth hormone receptor binding | |
| growth hormone activity | |
| positive regulation of insulin-like growth factor receptor signaling pathway | |
| positive regulation of phosphoinositide 3-kinase cascade | |
| positive regulation of JAK-STAT cascade | |
| positive regulation of tyrosine phosphorylation of Stat3 protein | |
| positive regulation of tyrosine phosphorylation of Stat5 protein | |
| positive regulation of receptor internalization | |
| positive regulation of peptidyl-tyrosine phosphorylation | |
| positive regulation of activation of JAK2 kinase activity | |
| positive regulation of multicellular organism growth | |
| positive regulation of MAP kinase activity | |
| growth hormone receptor signaling pathway | |
| glucose transport | |
| response to estradiol stimulus |
| LocusLink ID | 2688 |
|---|
| Alias | GH |
|---|---|
| GHN | |
| GH-N | |
| hGH-N | |
| growth hormone 1 | |
| pituitary growth hormone | |
| RNGHGP | |
| somatotropin 1 precursor | |
| Somatotropin precursor | |
| SOMA_HUMAN | |
| growth hormone I | |
| growth hormone | |
| GH1 | |
| GH I | |
| hGH |
| Organism | Homo sapiens |
|---|
| OMIM ID | 139250 |
|---|---|
| 262400 | |
| 173100 | |
| 262650 | |
| 604271 |