KISS1R (KISS1 receptor)

Gene Gene information from NCBI Gene database.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 84634
Gene name KISS1 receptor
Gene symbol KISS1R
Synonyms (NCBI Gene)
AXOR12CPPB1GPR54HH8HOT7T175KISS-1R
Chromosome 19
Chromosome location 19p13.3
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 e
SNPs SNP information provided by dbSNP.
7
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 Transcription factors information provided by TRRUST V2 database.
1
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604161 4510 ENSG00000116014
Protein Protein information from UniProt database.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (7)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of the genitourinary system Likely pathogenic; Pathogenic rs775830195 RCV001814579
Central precocious puberty 1 Likely pathogenic; Pathogenic rs104894703 RCV001197427
Hypogonadotropic hypogonadism Likely pathogenic; Pathogenic rs104894702 RCV004782009
Hypogonadotropic hypogonadism 8 with or without anosmia Likely pathogenic; Pathogenic rs104894703 RCV003989280
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs138885858 RCV005917406
Bilateral cryptorchidism Conflicting classifications of pathogenicity rs144670595 RCV000845180
Microphallus Conflicting classifications of pathogenicity rs144670595 RCV000845180
See cases Uncertain significance rs766849599 RCV004584529
Show/Hide Text Mining Associations (40)
Associations from Text MiningDisease 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