GNRH1
Gonadotropin Releasing Hormone 1
Gene Information Card
| Symbol | GNRH1 |
|---|---|
| Full Name | Gonadotropin Releasing Hormone 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p21.2 |
| NCBI Gene ID | 2796 ncbi.nlm.nih.gov/gene/2796 |
| Ensembl ID | ENSG00000147454 |
| UniProt ID | P01148 |
| OMIM ID | 152760 |
| HGNC ID | 4419 |
| Aliases | GNRH, GRH, LHRH, LHRH1, GnRH-associated peptide |
Description
GNRH1 (Gonadotropin Releasing Hormone 1) is a protein-coding gene located on chromosome 8p21.2. It encodes a preproprotein that is processed to generate the decapeptide gonadotropin-releasing hormone (GnRH), which is secreted by hypothalamic neurons and stimulates the pituitary gland to release luteinizing hormone (LH) and follicle-stimulating hormone (FSH). This gene is essential for the initiation and maintenance of reproductive function. Mutations in GNRH1 are associated with idiopathic hypogonadotropic hypogonadism (IHH) and Kallmann syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Idiopathic hypogonadotropic hypogonadism (IHH) | Loss-of-function mutations in GNRH1 impair GnRH synthesis or secretion, leading to deficient LH/FSH release and delayed or absent puberty. | ClinVar, OMIM |
| Kallmann syndrome | Defects in GNRH1 can cause anosmic hypogonadotropic hypogonadism due to disrupted GnRH neuron migration or function. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Hypothalamus | 12.5 | Medium |
| Pituitary | 0.8 | Not detected |
| Placenta | 3.2 | Low |
| Testis | 1.1 | Not detected |
| Ovary | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 4.3 | Neuronal model |
| HeLa (cervical carcinoma) | 0.2 | Low expression |
| HepG2 (hepatocellular carcinoma) | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.91C>T (p.Arg31*) | Nonsense | Rare | Loss of function; truncates the preproprotein, abolishing GnRH peptide. |
| c.200G>A (p.Arg67His) | Missense | Rare | Impairs GnRH processing or receptor binding. |
| c.1A>G (p.Met1?) | Start loss | Rare | Prevents translation initiation; complete loss of function. |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations that eliminate GnRH production or secretion.
Gain of Function (GOF)
Not reported for GNRH1.
Dominant Negative (DN)
Not reported for GNRH1.
View complete mutation data：
Gene Ontology (GO)
| • hormone activity | • neuropeptide hormone activity |
| • gonadotropin-releasing hormone activity | • extracellular region |
| • regulation of gonadotropin secretion | • reproductive process |
Pathways
• GnRH signaling pathway (KEGG: hsa04929)
• Neuroactive ligand-receptor interaction (KEGG: hsa04080)
• Hypothalamic-pituitary-gonadal axis
Protein Summary
The GNRH1 gene encodes a 92-amino-acid preproprotein that is cleaved to produce the mature 10-amino-acid gonadotropin-releasing hormone (GnRH) and a GnRH-associated peptide (GAP). GnRH is secreted in a pulsatile manner from hypothalamic neurons into the hypophyseal portal circulation, where it binds to GnRH receptors on anterior pituitary gonadotropes to stimulate LH and FSH release. This hormone is critical for sexual development and fertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GNRH1 Knockout HEK293 Cell Line | EDJ-KQ4735 | Human | 2796 | Details Get a Quote |
| GNRH1 Knockout A-549 Cell Line | EDJ-KQ27481 | Human | 2796 | Details Get a Quote |
| GNRH1 Knockout HCT 116 Cell Line | EDJ-KQ27482 | Human | 2796 | Details Get a Quote |
| GNRH1 Knockout HeLa Cell Line | EDJ-KQ27483 | Human | 2796 | Details Get a Quote |
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