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Gene Symbol |
KISS1 |
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Aliases |
HH13, KiSS-1 |
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Entrez Gene ID |
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Gene Name |
KiSS-1 metastasis suppressor |
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Chromosomal Location |
1q32.1 |
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HGNC ID |
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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]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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SNPs
SNP |
SNP ID |
Associated disease |
References |
g.54649892C>G |
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Idiopathic central precocious puberty (iCPP) |
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P110T |
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Central Precocious Puberty (CPP) |
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rs3924586 |
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Central Precocious Puberty (CPP) |
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rs3924585 |
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Central Precocious Puberty (CPP) |
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rs5780218 |
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Central Precocious Puberty (CPP) |
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rs4889 |
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Central Precocious Puberty (CPP), Idiopathic central precocious puberty (iCPP) |
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P74S |
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Idiopathic central precocious puberty (iCPP) |
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H90D |
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Idiopathic central precocious puberty (iCPP) |
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p.P110T |
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Idiopathic central precocious puberty (iCPP) |
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p.X139fx ( rs71745629) |
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Idiopathic central precocious puberty (iCPP) |
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E20K |
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Idiopathic central precocious puberty (iCPP) |
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rs1132506 |
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Idiopathic central precocious puberty (iCPP), Central Precocious Puberty (CPP) |
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rs35128240 |
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Idiopathic central precocious puberty (iCPP), Central Precocious Puberty (CPP) |
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rs5780218 |
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Idiopathic central precocious puberty (iCPP) |
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rs3924587 |
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Idiopathic central precocious puberty (iCPP) |
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rs35431622 |
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Idiopathic central precocious puberty (iCPP) |
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rs1132514 |
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Central Precocious Puberty (CPP) |
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Protein Information |
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Protein Name |
Metastasis-suppressor KiSS-1, kisspeptin-1, malignant melanoma metastasis-suppressor, metastin, prepro-kisspeptin |
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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. |
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UniProt |
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References |
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PubMed ID |
Disease |
SNP/Mutation |
Study population |
Ethnicity |
Age of study population |
Type of sample |
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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 |
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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 |
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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 |
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Idiopathic central precocious puberty (iCPP) |
rs5780218, rs3924587, rs12998, rs35431622, rs4889, rs71745629 |
Girls:28 |
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Leukocytes |
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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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Idiopathic central precocious puberty (iCPP) |
P74S, H90D |
Group 1 CPP (Girls:77, Boys:6), Group 2 IHH (Men:40, Women:21), Group 3 Control n=200 |
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Group 1 - 0.3-7.7year |
Peripheral leukocytes |
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