GH1 Gene - Growth Hormone 1: Function, Mutations, and Associated Diseases
Comprehensive biomedical overview of the GH1 gene, including genomic context, expression, mutations, and clinical significance.
Gene Information Card
| Symbol | GH1 |
|---|---|
| Full Name | Growth Hormone 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q23.3 |
| NCBI Gene ID | 2688 ncbi.nlm.nih.gov/gene/2688 |
| Ensembl ID | ENSG00000259384 |
| UniProt ID | P01241 |
| OMIM ID | 139250 |
| HGNC ID | 4261 |
| Aliases | GH, GH-N, GHN, hGH-N, IGHD1B, IGHD2 |
Description
The GH1 gene encodes growth hormone (somatotropin), a key pituitary hormone that stimulates growth, cell reproduction, and regeneration. It is primarily expressed in the anterior pituitary gland and plays a critical role in postnatal growth and metabolism. Mutations in GH1 cause isolated growth hormone deficiency (IGHD) and other growth disorders. The gene is part of the growth hormone/prolactin family and is regulated by hypothalamic factors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Isolated Growth Hormone Deficiency, Type IA (IGHD1A) | Homozygous deletions or frameshift mutations leading to complete absence of GH protein; autosomal recessive. | OMIM #262400; ClinVar |
| Isolated Growth Hormone Deficiency, Type IB (IGHD1B) | Mutations (missense, splice site) causing reduced GH secretion; autosomal recessive. | OMIM #612781; ClinVar |
| Isolated Growth Hormone Deficiency, Type II (IGHD2) | Dominant negative mutations (e.g., splice site) leading to aberrant splicing and reduced GH secretion; autosomal dominant. | OMIM #173100; ClinVar |
| Growth Hormone Deficiency with Pituitary Anomalies | GH1 mutations may be associated with pituitary hypoplasia or other structural defects. | ClinVar; literature |
| Short Stature (non-syndromic) | Heterozygous GH1 variants may contribute to mild growth impairment. | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pituitary Gland | High (nTPM ~ 1000+) | Primary site of expression |
| Placenta | Low (nTPM < 1) | Minor expression (placental GH variant) |
| Other tissues | Not detected | No significant expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Pituitary cells (somatotrophs) | High | Main GH-producing cells |
| HeLa | Not detected | No expression |
| MCF7 | Not detected | No expression |
| HepG2 | Not detected | No expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.291-1G>C | Splice site | Rare | Aberrant splicing; causes IGHD2 (dominant negative) |
| c.703_704delCT | Frameshift | Rare | Premature stop; causes IGHD1A (loss of function) |
| c.458G>A (p.Arg153His) | Missense | Rare | Reduced GH secretion; IGHD1B |
| c.594G>A (p.Trp198*) | Nonsense | Rare | Truncated protein; IGHD1A |
| c.656C>T (p.Pro219Leu) | Missense | Rare | Dominant negative effect; IGHD2 |
Mutation functional classification
Loss of Function (LOF)
Homozygous deletions or null mutations (e.g., frameshift, nonsense) result in complete absence of GH protein, causing IGHD1A with severe growth failure.
Gain of Function (GOF)
No gain-of-function mutations reported; GH1 is not an oncogene.
Dominant Negative (DN)
Splice site mutations (e.g., c.291-1G>C) produce aberrant GH isoforms that interfere with normal GH secretion, causing autosomal dominant IGHD2.
View complete mutation data：
Gene Ontology (GO)
| • hormone activity | • growth factor activity |
| • protein binding | • extracellular space |
| • regulation of signaling receptor activity | • positive regulation of cell population proliferation |
| • positive regulation of receptor signaling pathway via JAK-STAT | • response to nutrient levels |
Pathways
• Growth hormone signaling (JAK-STAT pathway)
• IGF-1 signaling pathway
• Pituitary hormone synthesis and secretion
• Regulation of insulin-like growth factor (IGF) transport and uptake
Protein Summary
Growth hormone (GH) is a 191-amino-acid single-chain polypeptide (22 kDa) secreted by somatotroph cells of the anterior pituitary. It binds to the growth hormone receptor (GHR) and activates JAK-STAT signaling, leading to the production of insulin-like growth factor 1 (IGF-1) in the liver and other tissues. GH promotes linear growth, protein synthesis, lipolysis, and carbohydrate metabolism. The protein is stored in secretory granules and released in a pulsatile manner regulated by GHRH and somatostatin.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HGH1 Knockout HEK293 Cell Line | EDJ-KQ10991 | Human | 51236 | Details Get a Quote |
| HGH1 Knockout A-549 Cell Line | EDJ-KQ38833 | Human | 51236 | Details Get a Quote |
| HGH1 Knockout HCT 116 Cell Line | EDJ-KQ38834 | Human | 51236 | Details Get a Quote |
| HGH1 Knockout HeLa Cell Line | EDJ-KQ38835 | Human | 51236 | Details Get a Quote |
| GH1 Knockout HEK293 Cell Line | EDJ-KQ50299 | Human | 2688 | Details Get a Quote |
| GH1 Knockout HeLa Cell Line | EDJ-KQ53335 | Human | 2688 | Details Get a Quote |
| GH1 Knockout A-549 Cell Line | EDJ-KQ61815 | Human | 2688 | Details Get a Quote |
| GH1 Knockout HCT 116 Cell Line | EDJ-KQ70302 | Human | 2688 | Details Get a Quote |
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