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KiSS-1 receptor (KiSS-1R) (G-protein coupled receptor 54) (G-protein coupled receptor OT7T175) (hOT7T175) (Hypogonadotropin-1) (Kisspeptins receptor) (Metastin receptor)

 KISSR_HUMAN             Reviewed;         398 AA.
Q969F8; A5D8U2; B2RTV1; Q96QG0;
01-MAR-2005, integrated into UniProtKB/Swiss-Prot.
06-FEB-2007, sequence version 2.
28-MAR-2018, entry version 145.
RecName: Full=KiSS-1 receptor;
Short=KiSS-1R;
AltName: Full=G-protein coupled receptor 54;
AltName: Full=G-protein coupled receptor OT7T175;
Short=hOT7T175;
AltName: Full=Hypogonadotropin-1;
AltName: Full=Kisspeptins receptor;
AltName: Full=Metastin receptor;
Name=KISS1R; Synonyms=AXOR12, GPR54;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA], VARIANT HIS-364, AND TISSUE SPECIFICITY.
PubMed=11385580; DOI=10.1038/35079135;
Ohtaki T., Shintani Y., Honda S., Matsumoto H., Hori A., Kanehashi K.,
Terao Y., Kumano S., Takatsu Y., Masuda Y., Ishibashi Y., Watanabe T.,
Asada M., Yamada T., Suenaga M., Kitada C., Usuki S., Kurokawa T.,
Onda H., Nishimura O., Fujino M.;
"Metastasis suppressor gene KiSS-1 encodes peptide ligand of a G-
protein-coupled receptor.";
Nature 411:613-617(2001).
[2]
NUCLEOTIDE SEQUENCE [MRNA], VARIANT HIS-364, AND TISSUE SPECIFICITY.
PubMed=11414709; DOI=10.1006/bbrc.2001.5098;
Clements M.K., McDonald T.P., Wang R., Xie G., O'Dowd B.F.,
George S.R., Austin C.P., Liu Q.;
"FMRFamide-related neuropeptides are agonists of the orphan G-protein-
coupled receptor GPR54.";
Biochem. Biophys. Res. Commun. 284:1189-1193(2001).
[3]
NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
TISSUE=Brain;
PubMed=11387329; DOI=10.1074/jbc.M102743200;
Muir A.I., Chamberlain L., Elshourbagy N.A., Michalovich D.,
Moore D.J., Calamari A., Szekeres P.G., Sarau H.M., Chambers J.K.,
Murdock P., Steplewski K., Shabon U., Miller J.E., Middleton S.E.,
Darker J.G., Larminie C.G.C., Wilson S., Bergsma D.J., Emson P.,
Faull R., Philpott K.L., Harrison D.C.;
"AXOR12, a novel human G protein-coupled receptor, activated by the
peptide KiSS-1.";
J. Biol. Chem. 276:28969-28975(2001).
[4]
NUCLEOTIDE SEQUENCE [MRNA], VARIANT HIS-364, POSSIBLE FUNCTION, AND
TISSUE SPECIFICITY.
TISSUE=Hypothalamus;
PubMed=11457843; DOI=10.1074/jbc.M104847200;
Kotani M., Detheux M., Vandenbogaerde A., Communi D.,
Vanderwinden J.-M., Le Poul E., Brezillon S., Tyldesley R.,
Suarez-Huerta N., Vandeput F., Blanpain C., Schiffmann S.N.,
Vassart G., Parmentier M.;
"The metastasis suppressor gene KiSS-1 encodes kisspeptins, the
natural ligands of the orphan G protein-coupled receptor GPR54.";
J. Biol. Chem. 276:34631-34636(2001).
[5]
NUCLEOTIDE SEQUENCE [MRNA], VARIANT HH8 SER-148, AND VARIANT HIS-364.
PubMed=14573733; DOI=10.1056/NEJMoa035322;
Seminara S.B., Messager S., Chatzidaki E.E., Thresher R.R.,
Acierno J.S. Jr., Shagoury J.K., Bo-Abbas Y., Kuohung W.,
Schwinof K.M., Hendrick A.G., Zahn D., Dixon J., Kaiser U.B.,
Slaugenhaupt S.A., Gusella J.F., O'Rahilly S., Carlton M.B.L.,
Crowley W.F. Jr., Aparicio S.A.J.R., Colledge W.H.;
"The GPR54 gene as a regulator of puberty.";
N. Engl. J. Med. 349:1614-1627(2003).
[6]
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Kidney;
Kaighin V.A., Martin A.L., Aronstam R.S.;
"Isolation of cDNA coding for human KISS1 receptor (KISS1R).";
Submitted (JUL-2008) to the EMBL/GenBank/DDBJ databases.
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15057824; DOI=10.1038/nature02399;
Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J.,
Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M.,
Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E.,
Caenepeel S., Carrano A.V., Caoile C., Chan Y.M., Christensen M.,
Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C.,
Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M.,
Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T.,
Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H.,
Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S.,
Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J.,
Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M.,
Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J.,
Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D.,
Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A.,
Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I.,
Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
Rubin E.M., Lucas S.M.;
"The DNA sequence and biology of human chromosome 19.";
Nature 428:529-535(2004).
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT HIS-364.
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[9]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT HIS-364.
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[10]
REVIEW.
PubMed=15519892; DOI=10.1016/S1043-2760(04)00218-8;
Colledge W.H.;
"GPR54 and puberty.";
Trends Endocrinol. Metab. 15:448-453(2004).
[11]
INVOLVEMENT IN CELL MOBILITY AND GROWTH INHIBITION.
PubMed=11527393; DOI=10.1006/bbrc.2001.5470;
Hori A., Honda S., Asada M., Ohtaki T., Oda K., Watanabe T.,
Shintani Y., Yamada T., Suenaga M., Kitada C., Onda H., Kurokawa T.,
Nishimura O., Fujino M.;
"Metastin suppresses the motility and growth of CHO cells transfected
with its receptor.";
Biochem. Biophys. Res. Commun. 286:958-963(2001).
[12]
TISSUE SPECIFICITY, AND POSSIBLE INVOLVEMENT IN INVASION/MIGRATION OF
TROPHOBLAST CELLS.
PubMed=12414911; DOI=10.1210/jc.2002-021093;
Janneau J.-L., Maldonado-Estrada J., Tachdjian G., Miran I., Motte N.,
Saulnier P., Sabourin J.-C., Cote J.-F., Simon B., Frydman R.,
Chaouat G., Bellet D.;
"Transcriptional expression of genes involved in cell invasion and
migration by normal and tumoral trophoblast cells.";
J. Clin. Endocrinol. Metab. 87:5336-5339(2002).
[13]
INVOLVEMENT IN THYROID CANCER.
PubMed=11994395; DOI=10.1210/jcem.87.5.8626;
Ringel M.D., Hardy E., Bernet V.J., Burch H.B., Schuppert F.,
Burman K.D., Saji M.;
"Metastin receptor is overexpressed in papillary thyroid cancer and
activates MAP kinase in thyroid cancer cells.";
J. Clin. Endocrinol. Metab. 87:2399-2399(2002).
[14]
INVOLVEMENT IN HH8.
PubMed=12944565; DOI=10.1073/pnas.1834399100;
de Roux N., Genin E., Carel J.-C., Matsuda F., Chaussain J.-L.,
Milgrom E.;
"Hypogonadotropic hypogonadism due to loss of function of the KiSS1-
derived peptide receptor GPR54.";
Proc. Natl. Acad. Sci. U.S.A. 100:10972-10976(2003).
[15]
POSSIBLE INVOLVEMENT IN HEPATOCELLULAR CARCINOMA.
PubMed=12898236; DOI=10.1007/s00432-003-0469-z;
Ikeguchi M., Hirooka Y., Kaibara N.;
"Quantitative reverse transcriptase polymerase chain reaction analysis
for KiSS-1 and orphan G-protein-coupled receptor (hOT7T175) gene
expression in hepatocellular carcinoma.";
J. Cancer Res. Clin. Oncol. 129:531-535(2003).
[16]
POSSIBLE INVOLVEMENT IN ESOPHAGEAL SQUAMOUS CELL CARCINOMA.
PubMed=14977840; DOI=10.1158/1078-0432.CCR-1519-02;
Ikeguchi M., Yamaguchi K., Kaibara N.;
"Clinical significance of the loss of KiSS-1 and orphan G-protein-
coupled receptor (hOT7T175) gene expression in esophageal squamous
cell carcinoma.";
Clin. Cancer Res. 10:1379-1383(2004).
[17]
TISSUE SPECIFICITY, AND ROLE IN THROPHOBLAST MIGRATION AND INVASION.
PubMed=15020672; DOI=10.1242/jcs.00971;
Bilban M., Ghaffari-Tabrizi N., Hintermann E., Bauer S., Molzer S.,
Zoratti C., Malli R., Sharabi A., Hiden U., Graier W., Knoefler M.,
Andreae F., Wagner O., Quaranta V., Desoye G.;
"Kisspeptin-10, a KiSS-1/metastin-derived decapeptide, is a
physiological invasion inhibitor of primary human trophoblasts.";
J. Cell Sci. 117:1319-1328(2004).
[18]
CHARACTERIZATION OF METASTASIS SUPPRESSOR PROPERTIES.
PubMed=15596153; DOI=10.1016/j.bbrc.2004.11.094;
Becker J.A.J., Mirjolet J.-F., Bernard J., Burgeon E., Simons M.-J.,
Vassart G., Parmentier M., Libert F.;
"Activation of GPR54 promotes cell cycle arrest and apoptosis of human
tumor cells through a specific transcriptional program not shared by
other G(q)-coupled receptors.";
Biochem. Biophys. Res. Commun. 326:677-686(2005).
[19]
VARIANTS HH8 ARG-223 AND LEU-297, VARIANT HIS-364, AND
CHARACTERIZATION OF VARIANTS HH8 ARG-223 AND LEU-297.
PubMed=15598687; DOI=10.1210/jc.2004-1418;
Semple R.K., Achermann J.C., Ellery J., Farooqi I.S., Karet F.E.,
Stanhope R.G., O'rahilly S., Aparicio S.A.;
"Two novel missense mutations in G protein-coupled receptor 54 in a
patient with hypogonadotropic hypogonadism.";
J. Clin. Endocrinol. Metab. 90:1849-1855(2005).
[20]
VARIANT HH8 PRO-102.
PubMed=17164310; DOI=10.1210/jc.2006-2147;
Tenenbaum-Rakover Y., Commenges-Ducos M., Iovane A., Aumas C.,
Admoni O., de Roux N.;
"Neuroendocrine phenotype analysis in five patients with isolated
hypogonadotropic hypogonadism due to a L102P inactivating mutation of
GPR54.";
J. Clin. Endocrinol. Metab. 92:1137-1144(2007).
[21]
VARIANT CPPB1 PRO-386, AND CHARACTERIZATION OF VARIANT CPPB1 PRO-386.
PubMed=18272894; DOI=10.1056/NEJMoa073443;
Teles M.G., Bianco S.D.C., Brito V.N., Trarbach E.B., Kuohung W.,
Xu S., Seminara S.B., Mendonca B.B., Kaiser U.B., Latronico A.C.;
"A GPR54-activating mutation in a patient with central precocious
puberty.";
N. Engl. J. Med. 358:709-715(2008).
[22]
VARIANTS HH8 THR-189 AND ASP-194.
PubMed=23643382; DOI=10.1016/j.ajhg.2013.04.008;
Miraoui H., Dwyer A.A., Sykiotis G.P., Plummer L., Chung W., Feng B.,
Beenken A., Clarke J., Pers T.H., Dworzynski P., Keefe K.,
Niedziela M., Raivio T., Crowley W.F. Jr., Seminara S.B., Quinton R.,
Hughes V.A., Kumanov P., Young J., Yialamas M.A., Hall J.E.,
Van Vliet G., Chanoine J.P., Rubenstein J., Mohammadi M., Tsai P.S.,
Sidis Y., Lage K., Pitteloud N.;
"Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in
individuals with congenital hypogonadotropic hypogonadism.";
Am. J. Hum. Genet. 92:725-743(2013).
[23]
VARIANT HH8 LEU-262.
PubMed=25077900; DOI=10.1210/jc.2014-2110;
Marcos S., Sarfati J., Leroy C., Fouveaut C., Parent P., Metz C.,
Wolczynski S., Gerard M., Bieth E., Kurtz F., Verier-Mine O.,
Perrin L., Archambeaud F., Cabrol S., Rodien P., Hove H., Prescott T.,
Lacombe D., Christin-Maitre S., Touraine P., Hieronimus S.,
Dewailly D., Young J., Pugeat M., Hardelin J.P., Dode C.;
"The prevalence of CHD7 missense versus truncating mutations is higher
in patients with Kallmann syndrome than in typical CHARGE patients.";
J. Clin. Endocrinol. Metab. 99:E2138-2143(2014).
-!- 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. The metastasis suppressor properties may be
mediated in part by cell cycle arrest and induction of apoptosis
in malignant cells. 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.
The receptor is also probably involved in the regulation and fine-
tuning of trophoblast invasion generated by the trophoblast
itself. 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.
{ECO:0000269|PubMed:15020672}.
-!- INTERACTION:
P67775:PPP2CA; NbExp=3; IntAct=EBI-8481408, EBI-712311;
-!- SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
-!- 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. In the adult brain, expressed in the superior frontal
gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus
accumbens, hippocampus, pons and amygdala, as well as the
hypothalamus and pituitary. Expression levels are higher in early
(7-9 weeks) than term placentas. Expression levels were increased
in both early placentas and molar pregnancies and were reduced in
choriocarcinoma cells. Expressed at higher levels in first
trimester trophoblasts than at term of gestation. Also found in
the extravillous trophoblast suggesting endocrine/paracrine
activation mechanism. {ECO:0000269|PubMed:11385580,
ECO:0000269|PubMed:11387329, ECO:0000269|PubMed:11414709,
ECO:0000269|PubMed:11457843, ECO:0000269|PubMed:12414911,
ECO:0000269|PubMed:15020672}.
-!- INDUCTION: Expressed at higher levels in first trimester
trophoblasts than at term of gestation.
-!- DISEASE: Hypogonadotropic hypogonadism 8 with or without anosmia
(HH8) [MIM:614837]: A disorder characterized by absent or
incomplete sexual maturation by the age of 18 years, in
conjunction with low levels of circulating gonadotropins and
testosterone and no other abnormalities of the hypothalamic-
pituitary axis. In some cases, it is associated with non-
reproductive phenotypes, such as anosmia, cleft palate, and
sensorineural hearing loss. Anosmia or hyposmia is related to the
absence or hypoplasia of the olfactory bulbs and tracts.
Hypogonadism is due to deficiency in gonadotropin-releasing
hormone and probably results from a failure of embryonic migration
of gonadotropin-releasing hormone-synthesizing neurons. In the
presence of anosmia, idiopathic hypogonadotropic hypogonadism is
referred to as Kallmann syndrome, whereas in the presence of a
normal sense of smell, it has been termed normosmic idiopathic
hypogonadotropic hypogonadism (nIHH).
{ECO:0000269|PubMed:12944565, ECO:0000269|PubMed:14573733,
ECO:0000269|PubMed:15598687, ECO:0000269|PubMed:17164310,
ECO:0000269|PubMed:23643382, ECO:0000269|PubMed:25077900}.
Note=The disease is caused by mutations affecting distinct genetic
loci, including the gene represented in this entry. The genetics
of hypogonadotropic hypogonadism involves various modes of
transmission. Oligogenic inheritance has been reported in some
patients carrying mutations in KISS1R as well as in other HH-
associated genes including FGFR1 and IL17RD (PubMed:23643382).
{ECO:0000269|PubMed:23643382}.
-!- DISEASE: Precocious puberty, central 1 (CPPB1) [MIM:176400]: A
condition defined as the development of secondary sexual
characteristics in boys and girls at a chronological age that is
2.5 standard deviations below the mean age at onset of puberty in
the population. Central precocious puberty results from premature
activation of the hypothalamic-pituitary-gonadal axis.
{ECO:0000269|PubMed:18272894}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the G-protein coupled receptor 1 family.
{ECO:0000255|PROSITE-ProRule:PRU00521}.
-!- WEB RESOURCE: Name=Protein Spotlight; Note=Tintin's blight - Issue
58 of May 2005;
URL="https://web.expasy.org/spotlight/back_issues/058";
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EMBL; AB051065; BAB55446.1; -; mRNA.
EMBL; AF343725; AAK83235.1; -; mRNA.
EMBL; AJ309020; CAC40817.1; -; mRNA.
EMBL; AY029541; AAK33126.1; -; mRNA.
EMBL; AY253981; AAP82929.1; -; mRNA.
EMBL; AY253982; AAP82930.1; -; mRNA.
EMBL; EU883577; ACG60651.1; -; mRNA.
EMBL; AC005379; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471139; EAW69583.1; -; Genomic_DNA.
EMBL; BC140825; AAI40826.1; -; mRNA.
EMBL; BC141812; AAI41813.1; -; mRNA.
CCDS; CCDS12049.1; -.
RefSeq; NP_115940.2; NM_032551.4.
UniGene; Hs.208229; -.
ProteinModelPortal; Q969F8; -.
SMR; Q969F8; -.
BioGrid; 124162; 4.
IntAct; Q969F8; 1.
MINT; Q969F8; -.
STRING; 9606.ENSP00000234371; -.
BindingDB; Q969F8; -.
ChEMBL; CHEMBL5413; -.
GuidetoPHARMACOLOGY; 266; -.
TCDB; 9.A.14.13.14; the g-protein-coupled receptor (gpcr) family.
iPTMnet; Q969F8; -.
PhosphoSitePlus; Q969F8; -.
BioMuta; KISS1R; -.
DMDM; 125987836; -.
PaxDb; Q969F8; -.
PeptideAtlas; Q969F8; -.
PRIDE; Q969F8; -.
Ensembl; ENST00000234371; ENSP00000234371; ENSG00000116014.
GeneID; 84634; -.
KEGG; hsa:84634; -.
UCSC; uc002lqk.4; human.
CTD; 84634; -.
DisGeNET; 84634; -.
EuPathDB; HostDB:ENSG00000116014.9; -.
GeneCards; KISS1R; -.
GeneReviews; KISS1R; -.
HGNC; HGNC:4510; KISS1R.
HPA; HPA071913; -.
MalaCards; KISS1R; -.
MIM; 176400; phenotype.
MIM; 604161; gene.
MIM; 614837; phenotype.
neXtProt; NX_Q969F8; -.
OpenTargets; ENSG00000116014; -.
Orphanet; 478; Kallmann syndrome.
Orphanet; 432; Normosmic congenital hypogonadotropic hypogonadism.
PharmGKB; PA28899; -.
eggNOG; KOG3656; Eukaryota.
eggNOG; ENOG410XRW9; LUCA.
GeneTree; ENSGT00860000133695; -.
HOGENOM; HOG000230487; -.
HOVERGEN; HBG106952; -.
InParanoid; Q969F8; -.
KO; K08374; -.
OMA; IEEGYWY; -.
OrthoDB; EOG091G0HEN; -.
PhylomeDB; Q969F8; -.
TreeFam; TF315737; -.
Reactome; R-HSA-375276; Peptide ligand-binding receptors.
Reactome; R-HSA-416476; G alpha (q) signalling events.
SIGNOR; Q969F8; -.
GeneWiki; KiSS1-derived_peptide_receptor; -.
GenomeRNAi; 84634; -.
PRO; PR:Q969F8; -.
Proteomes; UP000005640; Chromosome 19.
Bgee; ENSG00000116014; -.
CleanEx; HS_KISS1R; -.
ExpressionAtlas; Q969F8; baseline and differential.
Genevisible; Q969F8; HS.
GO; GO:0009986; C:cell surface; IEA:Ensembl.
GO; GO:0016021; C:integral component of membrane; IDA:UniProtKB.
GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
GO; GO:0005886; C:plasma membrane; IDA:HPA.
GO; GO:0008188; F:neuropeptide receptor activity; IDA:UniProtKB.
GO; GO:0007186; P:G-protein coupled receptor signaling pathway; TAS:Reactome.
GO; GO:0007200; P:phospholipase C-activating G-protein coupled receptor signaling pathway; IBA:GO_Central.
CDD; cd15095; 7tmA_KiSS1R; 1.
InterPro; IPR000276; GPCR_Rhodpsn.
InterPro; IPR017452; GPCR_Rhodpsn_7TM.
InterPro; IPR008103; KiSS_1_rcpt.
Pfam; PF00001; 7tm_1; 1.
PRINTS; PR00237; GPCRRHODOPSN.
PRINTS; PR01728; KISS1RECEPTR.
PROSITE; PS50262; G_PROTEIN_RECEP_F1_2; 1.
1: Evidence at protein level;
Cell membrane; Complete proteome; Disease mutation; Disulfide bond;
G-protein coupled receptor; Glycoprotein;
Hypogonadotropic hypogonadism; Membrane; Polymorphism; Receptor;
Reference proteome; Transducer; Transmembrane; Transmembrane helix.
CHAIN 1 398 KiSS-1 receptor.
/FTId=PRO_0000069695.
TOPO_DOM 1 46 Extracellular. {ECO:0000255}.
TRANSMEM 47 67 Helical; Name=1. {ECO:0000255}.
TOPO_DOM 68 78 Cytoplasmic. {ECO:0000255}.
TRANSMEM 79 101 Helical; Name=2. {ECO:0000255}.
TOPO_DOM 102 120 Extracellular. {ECO:0000255}.
TRANSMEM 121 138 Helical; Name=3. {ECO:0000255}.
TOPO_DOM 139 157 Cytoplasmic. {ECO:0000255}.
TRANSMEM 158 178 Helical; Name=4. {ECO:0000255}.
TOPO_DOM 179 202 Extracellular. {ECO:0000255}.
TRANSMEM 203 223 Helical; Name=5. {ECO:0000255}.
TOPO_DOM 224 263 Cytoplasmic. {ECO:0000255}.
TRANSMEM 264 284 Helical; Name=6. {ECO:0000255}.
TOPO_DOM 285 305 Extracellular. {ECO:0000255}.
TRANSMEM 306 328 Helical; Name=7. {ECO:0000255}.
TOPO_DOM 329 398 Cytoplasmic. {ECO:0000255}.
CARBOHYD 10 10 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 18 18 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 28 28 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
DISULFID 115 191 {ECO:0000255|PROSITE-ProRule:PRU00521}.
VARIANT 102 102 L -> P (in HH8; absence of inositol
phosphate accumulation under kisspeptin
challenge; normal affinity for
kisspeptin; dbSNP:rs104894703).
{ECO:0000269|PubMed:17164310}.
/FTId=VAR_043906.
VARIANT 148 148 L -> S (in HH8; 65% reduction of inositol
phosphate production; dbSNP:rs28939719).
{ECO:0000269|PubMed:14573733}.
/FTId=VAR_021392.
VARIANT 189 189 A -> T (in HH8; phenotype consistent with
normosmic idiopathic hypogonadotropic
hypogonadism; the patient also carries a
mutation in FGFR1; dbSNP:rs73507527).
{ECO:0000269|PubMed:23643382}.
/FTId=VAR_069961.
VARIANT 194 194 A -> D (in HH8; phenotype consistent with
Kallmann syndrome; the patient also
carries a mutation in IL17RD;
dbSNP:rs397514699).
{ECO:0000269|PubMed:23643382}.
/FTId=VAR_069962.
VARIANT 223 223 C -> R (in HH8; exhibit profoundly
impaired signaling).
{ECO:0000269|PubMed:15598687}.
/FTId=VAR_021393.
VARIANT 262 262 S -> L (in HH8; dbSNP:rs745580229).
{ECO:0000269|PubMed:25077900}.
/FTId=VAR_072975.
VARIANT 297 297 R -> L (in HH8; mild reduction in ligand-
stimulated activity across the ligand
dose range; dbSNP:rs144670595).
{ECO:0000269|PubMed:15598687}.
/FTId=VAR_021394.
VARIANT 364 364 L -> H (in dbSNP:rs350132).
{ECO:0000269|PubMed:11385580,
ECO:0000269|PubMed:11414709,
ECO:0000269|PubMed:11457843,
ECO:0000269|PubMed:14573733,
ECO:0000269|PubMed:15489334,
ECO:0000269|PubMed:15598687,
ECO:0000269|Ref.8}.
/FTId=VAR_021395.
VARIANT 386 386 R -> P (in CPPB1; reduced rate of decline
in inositol phosphate accumulation after
kisspeptin stimulation; prolonged
phosphorylation of ERK;
dbSNP:rs121908499).
{ECO:0000269|PubMed:18272894}.
/FTId=VAR_043907.
SEQUENCE 398 AA; 42586 MW; ECAE2208848F5B06 CRC64;
MHTVATSGPN ASWGAPANAS GCPGCGANAS DGPVPSPRAV DAWLVPLFFA ALMLLGLVGN
SLVIYVICRH KPMRTVTNFY IANLAATDVT FLLCCVPFTA LLYPLPGWVL GDFMCKFVNY
IQQVSVQATC ATLTAMSVDR WYVTVFPLRA LHRRTPRLAL AVSLSIWVGS AAVSAPVLAL
HRLSPGPRAY CSEAFPSRAL ERAFALYNLL ALYLLPLLAT CACYAAMLRH LGRVAVRPAP
ADSALQGQVL AERAGAVRAK VSRLVAAVVL LFAACWGPIQ LFLVLQALGP AGSWHPRSYA
AYALKTWAHC MSYSNSALNP LLYAFLGSHF RQAFRRVCPC APRRPRRPRR PGPSDPAAPH
AELLRLGSHP APARAQKPGS SGLAARGLCV LGEDNAPL


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