KISS1R
KiSS-1 receptor
Also known as: AXOR12, GPR54, HOT7T175, KISSR_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q969F8
- Gene
- KISS1R
- Ensembl
- ENSG00000116014
- Chromosome
- 19
- Canonical length
- 398 aa
- Protein class
- Disease related genes, G-protein coupled receptors, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
- Subcellular location
- Vesicles,Plasma membrane
OverviewNCBI 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 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. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
398 residues, UniProt reviewed canonical sequence.
>Q969F8|KISS1R
1 MHTVATSGPN ASWGAPANAS GCPGCGANAS DGPVPSPRAV DAWLVPLFFA ALMLLGLVGN
61 SLVIYVICRH KPMRTVTNFY IANLAATDVT FLLCCVPFTA LLYPLPGWVL GDFMCKFVNY
121 IQQVSVQATC ATLTAMSVDR WYVTVFPLRA LHRRTPRLAL AVSLSIWVGS AAVSAPVLAL
181 HRLSPGPRAY CSEAFPSRAL ERAFALYNLL ALYLLPLLAT CACYAAMLRH LGRVAVRPAP
241 ADSALQGQVL AERAGAVRAK VSRLVAAVVL LFAACWGPIQ LFLVLQALGP AGSWHPRSYA
301 AYALKTWAHC MSYSNSALNP LLYAFLGSHF RQAFRRVCPC APRRPRRPRR PGPSDPAAPH
361 AELLRLGSHP APARAQKPGS SGLAARGLCV LGEDNAPLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KISS1R can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 7
- Mean surface accessibility (rSASA)
- 0.39
- Highest tissue expression
- 3.5 nTPM
Expression across tissuesHPA
Tissue
- hypothalamus: 3.5 nTPM
- basal ganglia: 2.1 nTPM
- pancreas: 1.3 nTPM
- cerebral cortex: 1.2 nTPM
- amygdala: 1.1 nTPM
- pituitary gland: 1 nTPM
Single-cell type
- pancreatic acinar cells: 106 nCPM
- extravillous trophoblasts: 73 nCPM
- other brain neurons: 8.9 nCPM
- gonadotrophs: 7.7 nCPM
- retinal ganglion cells: 7.7 nCPM
- plasma cells: 7.3 nCPM
Immune cell
- naive CD4 T-cell: 0.3 nTPM
- neutrophil: 0.3 nTPM
- memory B-cell: 0.1 nTPM
- memory CD4 T-cell: 0.1 nTPM
- naive CD8 T-cell: 0.1 nTPM
- basophil: 0 nTPM
Brain region
- hypothalamus: 19 nTPM
- pons: 9.9 nTPM
- cerebral cortex: 8.5 nTPM
- basal ganglia: 7.5 nTPM
- medulla oblongata: 7.4 nTPM
- amygdala: 6.7 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about KISS1R.
Disease | AllUniProt
Conditions KISS1R is implicated in, by any mechanism.
- Hypogonadotropic hypogonadism 8 with or without anosmia (HH8) MIM:614837
- Precocious puberty, central 1 (CPPB1) MIM:176400
Disease | GeneticClinVar
17 pathogenic / likely-pathogenic of 197 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hypogonadotropic hypogonadism 8 without anosmia
- KISS1R-related disorder
- Hypogonadotropic hypogonadism 8 with or without anosmia
- Hypogonadotropic hypogonadism
- Central precocious puberty 1
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.65
- gnomAD pLI
- 0.44
- gnomAD missense Z
- 0.89
- DepMap mean gene effect
- 0
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- G protein-coupled receptor signaling pathway
- neuropeptide signaling pathway
- positive regulation of hormone secretion
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of KISS1R in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads KISS1R as an antibody target. Whether an autoantibody or antibody against KISS1R could matter depends on whether native KISS1R is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KISS1R is annotated at the cell surface, where native KISS1R is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label KISS1R as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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