| Tag | Content |
|---|---|
| Uniprot ID | Q91V45; Q8K3P2; |
| Entrez ID | 114229 |
| Genbank protein ID | AAK95814.1; AAH16531.1; BAC30404.1; AAK83236.1; |
| Genbank nucleotide ID | NM_053244.5; XM_006513077.3; XM_006513076.3; |
| Ensembl protein ID | ENSMUSP00000040516 |
| Ensembl nucleotide ID | ENSMUSG00000035773 |
| Gene name | KiSS-1 receptor |
| Gene symbol | Kiss1r |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | Receptor for metastin (kisspeptin-52 or kp-52), a C-terminally amidated peptide of KiSS1. KiSS1 is a metastasis suppressor protein. Activation of the receptor inhibits cell proliferation and cell migration, key characteristics of tumor metastasis. The receptor is essential for normal gonadotropin-released hormone physiology and for puberty. The hypothalamic KiSS1/KISS1R system is a pivotal factor in central regulation of the gonadotropic axis at puberty and in adulthood. Analysis of the transduction pathways activated by the receptor identifies coupling to phospholipase C and intracellular calcium release through pertussis toxin-insensitive G(q) proteins. |
| Sequence | MATEATLAPN VTWWAPSNAS GCPGCGVNAS DDPGSAPRPL DAWLVPLFFA TLMLLGLVGN 60 SLVIYVICRH KHMQTVTNFY IANLAATDVT FLLCCVPFTA LLYPLPAWVL GDFMCKFVNY 120 IQQVSVQATC ATLTAMSVDR WYVTVFPLRA LHRRTPRLAL AVSLSIWVGS AAVSAPVLAL 180 HRLSPGPRTY CSEAFPSRAL ERAFALYNLL ALYLLPLLAT CACYGAMLRH LGRAAVRPAP 240 TDGALQGQLL AQRAGAVRTK VSRLVAAVVL LFAACWGPIQ LFLVLQALGP SGAWHPRSYA 300 AYAVKIWAHC MSYSNSALNP LLYAFLGSHF RQAFCRVCPC CRQRQRRPHT SAHSDRAATH 360 TVPHSRAAHP VRIRSPEPGN PVVRSPCAQS ERTASL 396 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | KISS1R | A0A452FYY7 | Capra hircus | Prediction | More>> | |||
| 1:1 ortholog | KISS1R | 84634 | Q969F8 | Homo sapiens | Publication | More>> | ||
| 1:1 ortholog | Kiss1r | 114229 | Q91V45 | Mus musculus | Prediction | More>> | ||
| 1:1 ortholog | KISS1R | 741289 | A0A2J8J2E8 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | KISS1R | 733704 | Q1KS50 | Sus scrofa | Prediction | More>> | ||
| 1:1 ortholog | Kiss1r | 78976 | A0A1W2Q6L7 | Rattus norvegicus | Prediction | More>> |
| Gene symbol | Significant Variants/SNPS | Methods | PubMed ID |
|---|---|---|---|
| KISS1R | c.587C>A; p.P196H (heterozygous) | NGS and Sanger sequencing | 26199944 |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0004930 | G protein-coupled receptor activity | ISO |
| GO:0005515 | protein binding | IPI |
| GO:0008188 | neuropeptide receptor activity | ISO |
| GO:0008528 | G protein-coupled peptide receptor activity | ISO |
| GO:0008528 | G protein-coupled peptide receptor activity | IDA |
| GO:0008528 | G protein-coupled peptide receptor activity | IBA |
| GO:0042923 | neuropeptide binding | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000186 | activation of MAPKK activity | ISO |
| GO:0007165 | signal transduction | IDA |
| GO:0007186 | G protein-coupled receptor signaling pathway | ISO |
| GO:0007218 | neuropeptide signaling pathway | IBA |
| GO:0008285 | negative regulation of cell population proliferation | ISO |
| GO:0019722 | calcium-mediated signaling | ISO |
| GO:0046887 | positive regulation of hormone secretion | ISO |
| GO:0050482 | arachidonic acid secretion | ISO |
| GO:0050806 | positive regulation of synaptic transmission | ISO |
| GO:0051496 | positive regulation of stress fiber assembly | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005886 | plasma membrane | ISO |
| GO:0005887 | integral component of plasma membrane | ISO |
| GO:0005887 | integral component of plasma membrane | IBA |
| GO:0005929 | cilium | ISO |
| GO:0009986 | cell surface | IDA |
| GO:0016020 | membrane | ISO |
| GO:0016021 | integral component of membrane | ISO |
| GO:0043231 | intracellular membrane-bounded organelle | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-162582 | Signal Transduction | IEA |
| R-MMU-372790 | Signaling by GPCR | IEA |
| R-MMU-373076 | Class A/1 (Rhodopsin-like receptors) | IEA |
| R-MMU-375276 | Peptide ligand-binding receptors | IEA |
| R-MMU-388396 | GPCR downstream signalling | IEA |
| R-MMU-416476 | G alpha (q) signalling events | IEA |
| R-MMU-500792 | GPCR ligand binding | IEA |
| PROSITE ID | PROSITE Term |
|---|---|
| PS50262 | G_PROTEIN_RECEP_F1_2 |
| Pfam ID | Pfam Term |
|---|---|
| PF00001 | 7tm_1 |