KISS1

Gene Information
 
Gene Symbol
KISS1
 
Aliases
HH13, KiSS-1
 
Entrez Gene ID
 
Gene Name
KiSS-1 metastasis suppressor
 
Chromosomal Location
1q32.1
 
HGNC ID
 
Summary
This gene is a metastasis suppressor gene that suppresses metastases of melanomas and breast carcinomas without affecting tumorigenicity. The encoded protein may inhibit chemotaxis and invasion and thereby attenuate metastasis in malignant melanomas. Studies suggest a putative role in the regulation of events downstream of cell-matrix adhesion, perhaps involving cytoskeletal reorganization. A protein product of this gene, kisspeptin, stimulates gonadotropin-releasing hormone (GnRH)-induced gonadotropin secretion and regulates the pubertal activation of GnRH nuerons. A polymorphism in the terminal exon of this mRNA results in two protein isoforms. An adenosine present at the polymorphic site represents the third position in a stop codon. When the adenosine is absent, a downstream stop codon is utilized and the encoded protein extends for an additional seven amino acid residues. [provided by RefSeq, Mar 2012]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

SNPs

SNP
SNP ID
Associated disease
References
g.54649892C>G
Idiopathic central precocious puberty (iCPP)
P110T Central Precocious Puberty (CPP)
rs3924586 Central Precocious Puberty (CPP)
rs3924585 Central Precocious Puberty (CPP)
rs5780218 Central Precocious Puberty (CPP)

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0007010 Biological process Cytoskeleton organization TAS 9192814
GO:0007186 Biological process G protein-coupled receptor signaling pathway IBA 21873635
GO:0007204 Biological process Positive regulation of cytosolic calcium ion concentration IBA 21873635
GO:0043005 Cellular component Neuron projection IBA 21873635
GO:0005515 Molecular function Protein binding IPI 11387329, 32296183
Protein Information
 
Protein Name
Metastasis-suppressor KiSS-1, kisspeptin-1, malignant melanoma metastasis-suppressor, metastin, prepro-kisspeptin
 
Function
Metastasis suppressor protein in malignant melanomas and in some breast cancers. May regulate events downstream of cell-matrix adhesion, perhaps involving cytoskeletal reorganization. Generates a C-terminally amidated peptide, metastin which functions as the endogenous ligand of the G-protein coupled receptor GPR54. Activation of the receptor inhibits cell proliferation and cell migration, key characteristics of tumor metastasis. Kp-10 is a decapeptide derived from the primary translation product, isolated in conditioned medium of first trimester trophoblast. Kp-10, but not other kisspeptins, increased intracellular Ca(2+) levels in isolated first trimester trophoblasts. Kp-10 is a paracrine/endocrine regulator in fine-tuning trophoblast invasion generated by the trophoblast itself. The receptor is also essential for normal gonadotropin-released hormone physiology and for puberty. The hypothalamic KiSS1/GPR54 system is a pivotal factor in central regulation of the gonadotropic axis at puberty and in adulthood.
 
Refseq Proteins
 
UniProt
Pathways
 
KEGG
 
Reactome
 

Neuroactive ligand-receptor interaction

 

Peptide ligand-binding receptors
G alpha (q) signalling events

     
References
 
 
PubMed ID Disease SNP/Mutation Study population Ethnicity Age of study population Type of sample
Idiopathic central precocious puberty (iCPP) 
p.P110T, p.X139fx ( rs71745629), p.P81R (rs4889), p.E20K (rs12998), rs1132506, rs35128240, g.54649892C>G  
Total patients- Test: 101 girls, Control: 51 
Korean 
7.93 ± 0.98 years 
Blood
Central Precocious Puberty (CPP) 
P110T  
Total patients- Test: 272 girls, Control: 288 girls 
Chinese Hans, African 
5.9 and 8.5 years of age 
Blood
Central Precocious Puberty (CPP) 
rs4889, rs71745629, rs1132506, rs1132514, rs112442813, rs35128240, P110T  
Group 1 CPP (Girls:143), Group 2 Control (Girls:101) 
Group 1 &2 - Korean  
Group 1 mean age - 8.3years, Group 2 mean age - 10.03 years  
Blood
Idiopathic central precocious puberty (iCPP) 
rs5780218, rs3924587, rs12998, rs35431622, rs4889, rs71745629  
Girls:28 
 
 
Leukocytes
Idiopathic central precocious puberty (iCPP) 
rs71745629, rs4889  
Girls:19, Boys:1 
70% Caucasian, 20% Latin American, 5%African, 5% Gypsy 
0.25-7.75 years 
Blood

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