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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KISS1
KiSS-1 metastasis suppressor
Chromosome 1 Β· 1q32.1
NCBI Gene: 3814Ensembl: ENSG00000170498.11HGNC: HGNC:6341UniProt: Q15726
314PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingkisspeptin receptor bindingG protein-coupled receptor signaling pathwaypositive regulation of luteinizing hormone secretionhypogonadotropic hypogonadismpolycystic ovary syndromeneoplasmdisorder of sexual differentiation
✦AI Summary

KISS1 encodes kisspeptin, a critical regulator of the hypothalamic-pituitary-gonadal (HPG) axis essential for puberty initiation and reproductive function 1. The protein functions as a ligand for the G-protein coupled receptor GPR54, triggering G(q) signaling and phospholipase C activation to stimulate gonadotropin-releasing hormone (GnRH) secretion 1. KISS1 neurons in the arcuate nucleus and anteroventral periventricular nucleus produce kisspeptin-54, which is cleaved into shorter bioactive peptides 1. Beyond reproduction, KISS1 neurons secrete CCN3, a brain-derived hormone that promotes bone anabolism, particularly during lactation when calcium demand is elevated 2. Kisspeptin expression is differentially regulated by sex steroids, enabling estrogen-mediated positive feedback during the ovulatory cycle 1. Metabolic factors, including leptin, tightly control KISS1 expression, linking energy balance to reproductive capacity 3. Loss-of-function mutations in KISS1 or GPR54 cause hypogonadotropic hypogonadism with absent puberty and low gonadotropin levels 1. KISS1 variants (rs12998 G>A and rs4889 C>G) are associated with idiopathic recurrent pregnancy loss 4. Mutations in the kisspeptin system also contribute to central precocious puberty 5, highlighting KISS1's role in determining pubertal timing.

Sources cited
1
GPR54/KISS1 signaling is essential for puberty initiation and maintenance; kisspeptin is a 54-amino-acid peptide cleaved into shorter forms; expressed in AVPV and ARC hypothalamic regions; regulated by sex steroids
PMID: 18193176
2
KISS1 neurons secrete CCN3, a bone-building hormone that promotes osteoblast activity and is upregulated during lactation
PMID: 38987585
3
KISS1 neurons serve as regulatory center for reproduction; kisspeptin expression is metabolically regulated by energy balance factors
PMID: 32427949
4
Kisspeptin system mutations contribute to central precocious puberty pathogenesis
PMID: 30086862
5
KISS1 gene variants rs12998 G>A and rs4889 C>G are associated with idiopathic recurrent pregnancy loss
PMID: 36854822
6
KISS1 neurons mediate leptin's effects on reproductive function; alterations in KISS1 expression linked to reproductive dysfunction in energy imbalance states
PMID: 17982352
7
Hypothalamic-pituitary-gonadal axis controls puberty initiation through complex regulatory networks
PMID: 26852256
8
GPR54 loss-of-function mutations cause hypogonadotropic hypogonadism and absent puberty in humans and mice
PMID: 17710729
Disease Associationsβ“˜21
hypogonadotropic hypogonadismOpen Targets
0.56Moderate
polycystic ovary syndromeOpen Targets
0.13Weak
neoplasmOpen Targets
0.11Weak
disorder of sexual differentiationOpen Targets
0.11Weak
Genetic 46,XY disorder of sex developmentOpen Targets
0.11Weak
benign prostatic hyperplasiaOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
colorectal cancerOpen Targets
0.09Suggestive
melanomaOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.09Suggestive
Central precocious pubertyOpen Targets
0.09Suggestive
nasopharyngeal carcinomaOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
Kallmann syndromeOpen Targets
0.08Suggestive
azoospermiaOpen Targets
0.08Suggestive
Testicular regression syndromeOpen Targets
0.07Suggestive
46,XX gonadal dysgenesisOpen Targets
0.07Suggestive
primary ovarian insufficiencyOpen Targets
0.07Suggestive
Hypogonadotropic hypogonadism 13 with or without anosmiaUniProt
Pathogenic Variants2
NM_002256.4(KISS1):c.345C>G (p.Asn115Lys)Likely pathogenic
Hypogonadotropic hypogonadism 13 with or without anosmia
β˜…β˜†β˜†β˜†β†’ Residue 115
NM_002256.4(KISS1):c.339C>G (p.Asn113Lys)Pathogenic
Hypogonadotropic hypogonadism 13 with or without anosmia
β˜†β˜†β˜†β˜†2012β†’ Residue 113
View on ClinVar β†—
Related Genes
PROK2Protein interaction100%UMPSProtein interaction100%NPFFR1Protein interaction98%DPYDProtein interaction96%FSHBProtein interaction95%GNRH2Protein interaction95%
Tissue Expression6 tissues
Liver
100%
Lung
5%
Brain
4%
Bone Marrow
3%
Ovary
2%
Heart
0%
Gene Interaction Network
Click a node to explore
KISS1PROK2UMPSNPFFR1DPYDFSHBGNRH2
PROTEIN STRUCTURE
Preparing viewer…
PDB8XGS Β· 2.95 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.55LoF Tolerant
pLIβ“˜
0.47Tolerant
Observed/Expected LoF0.00 [0.00–1.55]
RankingsWhere KISS1 stands among ~20K protein-coding genes
  • #1,081of 20,598
    Most Researched314 Β· top 10%
  • #4,212of 5,498
    Most Pathogenic Variants2
  • #15,459of 17,882
    Most Constrained (LOEUF)1.55
Genes detectedKISS1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Pubertal development and regulation.
PMID: 26852256
Lancet Diabetes Endocrinol Β· 2016
1.00
2
A maternal brain hormone that builds bone.
PMID: 38987585
Nature Β· 2024
0.90
3
Central precocious puberty: From genetics to treatment.
PMID: 30086862
Best Pract Res Clin Endocrinol Metab Β· 2018
0.80
4
Metabolic regulation of kisspeptin - the link between energy balance and reproduction.
PMID: 32427949
Nat Rev Endocrinol Β· 2020
0.70
5
Kisspeptin signaling in astrocytes modulates the reproductive axis.
PMID: 38861336
J Clin Invest Β· 2024
0.64