KISS1 Receptor

Alternative Names

  • KISS1R
  • G Protein-Coupled Receptor 54
  • GPR54 Metastin Receptor
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OMIM Number

604161

NCBI Gene ID

84634

Uniprot ID

Q969F8

Length

4,313 bases

No. of Exons

5

No. of isoforms

1

Protein Name

KiSS-1 receptor

Molecular Mass

42586 Da

Amino Acid Count

398

Genomic Location

chr19:916,692-921,004

Gene Map Locus
19p13.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_032551.4:c.1195T>CTunisiaNC_000019.10:g.920746T>CPathogenicPathogenicHypogonadotropic Hypogonadism 8 With Or Without AnosmiaNG_008277.1:g.8405T>C; NM_032551.4:c.1195T>C; NP_115940.2:p.Ter399ArgextTer?1048947025757
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