KISS1R (KISS1 receptor)

Gene
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84634
Gene name Gene Name - the full gene name approved by the HGNC.
KISS1 receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KISS1R
Synonyms (NCBI Gene) Gene synonyms aliases
AXOR12, CPPB1, GPR54, HH8, HOT7T175, KISS-1R
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 e
SNPs SNP information provided by dbSNP.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
SNP ID Visualize variation Clinical significance Consequence
rs28939719 T>C Pathogenic Coding sequence variant, missense variant
rs104894701 C>T Pathogenic 3 prime UTR variant, coding sequence variant, stop gained
rs104894702 T>A,C Pathogenic Terminator codon variant, downstream transcript variant, genic downstream transcript variant, stop lost
rs104894703 T>C Pathogenic Coding sequence variant, missense variant
rs121908499 G>C Conflicting-interpretations-of-pathogenicity, pathogenic Downstream transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
Transcription factors
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
AR Activation 18331266
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(19)
GO ID Ontology Definition Evidence Reference
GO:0004930 Function G protein-coupled receptor activity IEA
GO:0005515 Function Protein binding IPI 11387329, 18772143, 18977201
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA
GO:0005886 Component Plasma membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604161 4510 ENSG00000116014
Protein
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q969F8
Protein name KiSS-1 receptor (KiSS-1R) (G-protein coupled receptor 54) (G-protein coupled receptor OT7T175) (hOT7T175) (Hypogonadotropin-1) (Kisspeptins receptor) (Metastin receptor)
Protein 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.
PDB 7YQE , 8XGO , 8XGS , 8XGU , 8ZJD , 8ZJE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00001 7tm_1 59 → 323 7 transmembrane receptor (rhodopsin family) Family
Tissue specificity TISSUE SPECIFICITY: Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes
Sequence
Sequence length 398
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Neuroactive ligand-receptor interaction
GnRH secretion 		  Peptide ligand-binding receptors
G alpha (q) signalling events
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hypogonadotropic Hypogonadism hypogonadotropic hypogonadism rs104894702 N/A
Hypogonadotropic Hypogonadism With Or Without Anosmia Hypogonadotropic hypogonadism 8 without anosmia, hypogonadotropic hypogonadism 8 with or without anosmia rs28939719, rs104894701, rs104894702, rs104894703 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Central Precocious Puberty central precocious puberty 1 N/A N/A GenCC
Show/Hide Text Mining Associations (40)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Anodontia Associate 26199944
Asthma Inhibit 35420998
Azoospermia Associate 31821609
Breast Neoplasms Associate 21738726, 29203642, 35345369
Breast Neoplasms Stimulate 28422142
Carcinoma Hepatocellular Associate 12898236
Carcinoma Ovarian Epithelial Associate 19331211
Carcinoma Renal Cell Associate 25846316
Cleft Lip Associate 26199944
Colorectal Neoplasms Associate 24395571, 25260785, 30003725