KISS1R

Gene Information
 
Gene Symbol
KISS1R
 
Aliases
AXOR12, CPPB1, GPR54, HH8, HOT7T175, KISS-1R
 
Entrez Gene ID
 
Gene Name
KISS1 receptor
 
Chromosomal Location
19p13.3
 
HGNC ID
 
Summary
The protein encoded by this gene is a galanin-like G protein-coupled receptor that binds metastin, a peptide encoded by the metastasis suppressor gene KISS1. The tissue distribution of the expressed gene suggests that it is involved in the regulation of endocrine function, and this is supported by the finding that this gene appears to play a role in the onset of puberty. Mutations in this gene have been associated with hypogonadotropic hypogonadism and central precocious puberty. [provided by RefSeq, Jul 2008]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

SNPs

SNP
SNP ID
 Associated disease
References
P196H
Central Precocious Puberty (CPP)
855061G/A
Central Precocious Puberty (CPP)
855765A/G
Central Precocious Puberty (CPP)
860460G/A
Central Precocious Puberty (CPP)
P74S
Central Precocious Puberty (CPP)

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0007186 Biological process G protein-coupled receptor signaling pathway NAS 11387329
GO:0007218 Biological process Neuropeptide signaling pathway IBA 21873635
GO:0005887 Cellular component Integral component of plasma membrane IBA 21873635
GO:0005929 Cellular component Cilium IDA 28154160
GO:0016021 Cellular component Integral component of membrane IDA 11387329
Protein Information
 
Protein Name
KiSS-1 receptor, G protein-coupled receptor 54, G-protein coupled receptor OT7T175, hypogonadotropin-1, kisspeptins receptor, metastin receptor
 
Function
Receptor for metastin (kisspeptin-54 or kp-54), a C-terminally amidated peptide of KiSS1. KiSS1 is a metastasis suppressor protein that suppresses metastases in malignant melanomas and in some breast carcinomas without affecting tumorigenicity. The metastasis suppressor properties may be mediated in part by cell cycle arrest and induction of apoptosis in malignant cells. The receptor is essential for normal gonadotropin-released hormone physiology and for puberty. The hypothalamic KiSS1/KISS1R system is a pivotal factor in central regulation of the gonadotropic axis at puberty and in adulthood. The receptor is also probably involved in the regulation and fine-tuning of trophoblast invasion generated by the trophoblast itself. Analysis of the transduction pathways activated by the receptor identifies coupling to phospholipase C and intracellular calcium release through pertussis toxin-insensitive G(q) proteins.
 
Refseq Proteins
 
UniProt
     
References
 
 
PubMed ID Disease SNP/Mutation Study population Ethnicity Age of study population Type of sample
Familial Central Precocious Puberty (FCPP) 
rs10407968, rs3050132  
 girls:25 
Iranian 
 mean age 5.76 ± 1.2 years old 
Blood
Central Precocious Puberty (CPP) 
P74S, H90D  
 Group 1 (CPP) - Girls:77, Boys:6, Group 2 (normosmic IHH) Female:21, Male:40, Group 3 (Control) - 200 adults 
 
 For group 1 - mean pubertal onset age -5.2 ± 2 yr 
Central Precocious Puberty (CPP) 
rs184749, rs3746146, P196H, 855061G/A, 855765A/G, 860460G/A  
 Group 1 -272 girls with CPP, Group 2 - 288 girls control group  
Chinese Han 
 Between 5.9 and 8.5 years  
Central Precocious Puberty (CPP) 
Arg386Pro  
 Group 1 -Girls:1, Group 2 - 53 children with idiopathic CPP, Group 3 - 150 adult control  
 
 Group 1 -8 years  
Central Precocious Puberty (CPP) 
rs3810423, rs10407968, rs117902808, rs543723928, rs350131, rs350132, rs3746146  
 Group 1 idiopathic CPP (Girls:194), Group 2 control (Girls:99) 
Korean 
  
Peripheral leukocytes
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