KISS1R
KISS1 Receptor (GPR54) – Key Regulator of Puberty and Reproduction
Gene Information Card
| Symbol | KISS1R |
|---|---|
| Full Name | KISS1 receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 84634 ncbi.nlm.nih.gov/gene/84634 |
| Ensembl ID | ENSG00000116014 |
| UniProt ID | Q96F46 |
| OMIM ID | 604161 |
| HGNC ID | 4510 |
| Aliases | GPR54, HH8, HOT7T175, AXOR12, KISS-1R |
Description
The KISS1R gene encodes the KISS1 receptor (also known as GPR54), a G protein-coupled receptor that binds kisspeptins (encoded by KISS1). This receptor is essential for the regulation of gonadotropin-releasing hormone (GnRH) secretion, thereby controlling puberty onset and reproductive function. Mutations in KISS1R cause idiopathic hypogonadotropic hypogonadism (IHH) with anosmia or normosmia. The receptor also plays a role in cancer metastasis suppression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Idiopathic hypogonadotropic hypogonadism (IHH) | Loss-of-function mutations impair GnRH secretion, leading to delayed or absent puberty and infertility. | ClinVar, OMIM #604161 |
| Central precocious puberty (CPP) | Activating mutations (e.g., Arg386Pro) cause early GnRH release and premature puberty. | OMIM #176400, literature |
| Metastatic cancer (e.g., melanoma, breast) | Reduced KISS1R expression correlates with increased metastatic potential; receptor activation suppresses metastasis. | NCBI Gene, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 12.5 | Medium |
| Pituitary | 8.2 | Medium |
| Brain (cerebellum) | 6.1 | Low |
| Testis | 5.4 | Low |
| Pancreas | 4.8 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High (overexpression studies) |
| SH-SY5Y (neuroblastoma) | 7.8 | Medium |
| MCF7 (breast cancer) | 3.2 | Low |
| HeLa | 2.1 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.991C>T (p.Arg331X) | Nonsense | Rare | Loss of function; truncation of receptor |
| c.1157G>A (p.Arg386Pro) | Missense | Rare | Gain of function; associated with central precocious puberty |
| c.1001C>T (p.Thr334Met) | Missense | Rare | Loss of function; impaired signaling |
| c.1193G>A (p.Arg398Gln) | Missense | Rare | Loss of function; reduced cell surface expression |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Arg331X, p.Thr334Met, and p.Arg398Gln impair receptor signaling, leading to hypogonadotropic hypogonadism.
Gain of Function (GOF)
Mutation p.Arg386Pro results in constitutive activation, causing central precocious puberty.
Dominant Negative (DN)
No dominant-negative mutations have been reported for KISS1R.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • kisspeptin receptor activity |
| • peptide hormone binding | • positive regulation of GnRH secretion |
| • positive regulation of LH secretion | • cell-cell signaling |
| • response to peptide hormone |
Pathways
• GnRH secretion pathway
• Kisspeptin/KISS1R signaling
• G alpha(q) signaling events
• Neuroactive ligand-receptor interaction
Protein Summary
The KISS1 receptor (Q96F46) is a 398-amino acid G protein-coupled receptor with seven transmembrane domains. It is activated by kisspeptins (KISS1-derived peptides), leading to intracellular calcium mobilization via Gq/11 proteins. The receptor is predominantly expressed in the hypothalamus, pituitary, placenta, and gonads. It is critical for the hypothalamic-pituitary-gonadal axis, regulating puberty and fertility. Loss-of-function mutations cause hypogonadotropic hypogonadism, while gain-of-function mutations cause precocious puberty. The receptor also suppresses metastasis in certain cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KISS1R Knockout HEK293 Cell Line | EDJ-KQ10147 | Human | 84634 | Details Get a Quote |
| KISS1R Knockout HCT 116 Cell Line | EDJ-KQ37248 | Human | 84634 | Details Get a Quote |
| KISS1R Knockout HeLa Cell Line | EDJ-KQ57624 | Human | 84634 | Details Get a Quote |
| KISS1R Knockout A-549 Cell Line | EDJ-KQ66122 | Human | 84634 | Details Get a Quote |
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