| Name | GH1 |
|---|---|
| Description | growth hormone 1 |
| Owner | Public |
| URN | urn:agi-llid:2688 |
| Connectivity | 100 |
| 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. |
| Hugo ID | 4261 |
| Microarray ID | 205840_x_at |
|---|---|
| 206885_x_at | |
| 206886_x_at | |
| 208068_x_at | |
| 208069_x_at | |
| 211151_x_at | |
| 1332_f_at | |
| 308_f_at | |
| 309_f_at | |
| 40316_at | |
| 79518_f_at | |
| j00148_cds2_f_at | |
| A_23_P207194 | |
| OH1601 |
| Chromosome position | 17q24.2 |
|---|---|
| 10q32 |
| GO ID | 0005179 |
|---|---|
| 0005576 | |
| 0007165 | |
| 0005131 | |
| 0005615 | |
| 0040008 |
| Alias | Gh1 |
|---|---|
| GH I | |
| RNGHGP | |
| somatotropin 1 precursor | |
| Somatotropin precursor | |
| growth hormone 1 | |
| hGH-N | |
| pituitary growth hormone | |
| SOMA_HUMAN | |
| growth hormone I | |
| growth hormone | |
| ghn | |
| GH-N |
| Organism | Rattus norvegicus |
|---|---|
| Homo sapiens |
| MedLine Reference | 8943276 |
|---|---|
| 12161450 | |
| 12239086 |
| LocusLink ID | 2688 |
|---|---|
| 24391 |
| FunctionalClass | hormone |
|---|---|
| growth hormone receptor binding |
| RGD ID | 2686 |
|---|
| Hugo Symbol | GH1 |
|---|
| Unigene ID | Hs.500468 |
|---|
| KEGG pathway | Cytokine-cytokine receptor interaction |
|---|---|
| Jak-STAT signaling pathway | |
| Neuroactive ligand-receptor interaction |
| GO Cellular Component | extracellular space |
|---|---|
| extracellular region |
| Cell Localization | Extracellular |
|---|
| Pathway | Growth Hormone |
|---|---|
| GHR -> MYC signalling pathway | |
| GHR -> FOS signalling pathway | |
| GHR -> SPI1 signalling pathway | |
| GHR -> STAT1 signalling pathway | |
| GHR -> STAT3 signalling pathway | |
| GHR -> STAT5A signalling pathway | |
| GHR -> STAT5B signalling pathway | |
| GHR -> EGR1 signalling pathway | |
| PRLR -> VAV1 signalling pathway | |
| PRLR -> IRF1 signalling pathway | |
| PRLR -> STAT1 signalling pathway | |
| PRLR -> STAT3 signalling pathway | |
| PRLR -> STAT5A signalling pathway | |
| PRLR -> STAT5B signalling pathway | |
| PRLR -> CTNNB1 signalling pathway | |
| GH1-GHR | |
| GH1-IGF1R | |
| GH1-PRLR | |
| ERalpha | |
| TR |
| GO Biological Process | regulation of growth |
|---|---|
| signal transduction |
| Group | Ligands |
|---|
| State | isoform 1 |
|---|---|
| isoform 2 | |
| isoform 3 | |
| isoform 4 | |
| isoform 5 |
| State Description | Transcript Variant: This variant (1) utilizes all five exons, generating the predominant 22-kDa isoform (1). |
|---|---|
| Transcript Variant: This variant (2) utilizes an alternative splice acceptor site 45 nt into exon 3 to generate the 20-kDa isoform (2) which has an internal deletion relative to the predominant 22-kDa isoform (1). | |
| Transcript Variant: This variant (3) is missing exon 3 generating an isoform (3) which has an internal deletion relative to the predominant 22-kDa isoform (1). | |
| Transcript Variant: This variant (4) is missing exons 3 and 4 generating an isoform (4) which has an internal deletion relative to the predominant 22-kDa isoform (1). | |
| Transcript Variant: This variant (5) is missing exons 2, 3 and 4, leading to a frameshift that generates the shortest isoform (5). The majority of the sequence encoding the signal peptide is missing, including the signal cleavage site. The carboxy term... |
| Swiss-Prot Accession | P01241 |
|---|
| OMIM ID | 139250 |
|---|
| Source | Curated |
|---|