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Aliases for KISS1R Gene

Aliases for KISS1R Gene

  • KISS1 Receptor 2 3
  • GPR54 3 4 6
  • G-Protein Coupled Receptor OT7T175 3 4
  • G Protein-Coupled Receptor 54 2 3
  • Kisspeptins Receptor 3 4
  • Hypogonadotropin-1 3 4
  • Metastin Receptor 3 4
  • HOT7T175 3 4
  • KISS-1R 3 4
  • AXOR12 3 4
  • CPPB1 3 6
  • HH8 3 6
  • G-Protein Coupled Receptor 54 4
  • KiSS-1 Receptor 3

External Ids for KISS1R Gene

Previous Symbols for KISS1R Gene

  • GPR54

Summaries for KISS1R Gene

Entrez Gene Summary for KISS1R 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]

GeneCards Summary for KISS1R Gene

KISS1R (KISS1 Receptor) is a Protein Coding gene. Diseases associated with KISS1R include hypogonadotropic hypogonadism 8 with or without anosmia and central precocious puberty. Among its related pathways are Signaling by GPCR and Signaling by GPCR. GO annotations related to this gene include neuropeptide receptor activity and neuropeptide binding. An important paralog of this gene is GALR2.

UniProtKB/Swiss-Prot for KISS1R Gene

  • 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.

Tocris Summary for KISS1R Gene

  • The KISS-derived peptide receptor (KISS1) is a Gq/G11-protein-coupled receptor that signals through stimulation of phospholipase C resulting in Ca2+ mobilization. The KISS1 receptor is found at high concentrations in the pancreas, placenta and brain and there are lower expression levels in the small intestine, kidney, lung, liver and heart. The KISS-derived peptide receptor plays a key role in the neuroendocrine control of the gonadotrophin axis and has been implicated in the inhibition of metastasis. The human KISS1 receptor gene is localized on chromosome 19p13.3.

Gene Wiki entry for KISS1R Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KISS1R Gene

Genomics for KISS1R Gene

Genomic Location for KISS1R Gene

Start:
917,287 bp from pter
End:
921,015 bp from pter
Size:
3,729 bases
Orientation:
Plus strand

Genomic View for KISS1R Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KISS1R Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KISS1R Gene

Regulatory Elements for KISS1R Gene

Proteins for KISS1R Gene

  • Protein details for KISS1R Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969F8-KISSR_HUMAN
    Recommended name:
    KiSS-1 receptor
    Protein Accession:
    Q969F8
    Secondary Accessions:
    • A5D8U2
    • B2RTV1
    • Q96QG0

    Protein attributes for KISS1R Gene

    Size:
    398 amino acids
    Molecular mass:
    42586 Da
    Quaternary structure:
    No Data Available

neXtProt entry for KISS1R Gene

Proteomics data for KISS1R Gene at MOPED

Post-translational modifications for KISS1R Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn10, Asn18, and Asn28

Other Protein References for KISS1R Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for KISS1R Gene

Domains for KISS1R Gene

Gene Families for KISS1R Gene

HGNC:
  • RFAPR :GPCR / Class A : RF amide peptide receptors
IUPHAR :

Protein Domains for KISS1R Gene

UniProtKB/Swiss-Prot:

KISSR_HUMAN
Family:
  • Belongs to the G-protein coupled receptor 1 family.:
    • Q969F8
genes like me logo Genes that share domains with KISS1R: view

Function for KISS1R Gene

Molecular function for KISS1R Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction: Expressed at higher levels in first trimester trophoblasts than at term of gestation

Gene Ontology (GO) - Molecular Function for KISS1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G-protein coupled receptor activity --
GO:0005515 protein binding IPI 11387329
GO:0008188 neuropeptide receptor activity IDA 11387329
GO:0008528 G-protein coupled peptide receptor activity --
GO:0042923 neuropeptide binding IEA --
genes like me logo Genes that share ontologies with KISS1R: view
genes like me logo Genes that share phenotypes with KISS1R: view

Animal Models for KISS1R Gene

MGI Knock Outs for KISS1R:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for KISS1R Gene

Localization for KISS1R Gene

Subcellular locations from UniProtKB/Swiss-Prot for KISS1R Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KISS1R Gene COMPARTMENTS Subcellular localization image for KISS1R gene
Compartment Confidence
plasma membrane 5
nucleus 2

Gene Ontology (GO) - Cellular Components for KISS1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0009986 cell surface IEA --
GO:0016020 membrane --
GO:0016021 integral component of membrane IDA 11387329
genes like me logo Genes that share ontologies with KISS1R: view

Pathways for KISS1R Gene

genes like me logo Genes that share pathways with KISS1R: view

Gene Ontology (GO) - Biological Process for KISS1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000186 activation of MAPKK activity IEA --
GO:0007165 signal transduction --
GO:0007186 G-protein coupled receptor signaling pathway NAS 11387329
GO:0007218 neuropeptide signaling pathway IDA 11387329
GO:0008285 negative regulation of cell proliferation IEA --
genes like me logo Genes that share ontologies with KISS1R: view

Compounds for KISS1R Gene

(4) Tocris Compounds for KISS1R Gene

Compound Action Cas Number
Kisspeptin 10 (human) Endogenous ligand for KISS1 receptor (hOT7T175/AXOR12/GPR54) [374675-21-5]
Kisspeptin 10 (rat) Endogenous ligand for KISS1 receptor [478507-53-8]
Kisspeptin 234 KISS1/GPR54 antagonist; kisspeptin 10 (Cat. No. 2570) analog [1145998-81-7]
Metastin (human) Potent, endogenous ligand for KISS1 receptor (hOT7T175/AXOR12/GPR54) [374683-24-6]

(1) HMDB Compounds for KISS1R Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(14) IUPHAR Ligand for KISS1R Gene

Ligand Type Action Affinity Pubmed IDs
kisspeptin-10 Agonist Full agonist 10.4
kisspeptin-15 Agonist Full agonist 10
[125I]Tyr45-kisspeptin-15 Agonist Full agonist 10
[125I]kisspeptin-54 (human) Agonist Full agonist 10
[125I]kisspeptin-13 (human) Agonist Full agonist 9.7
kisspeptin-54 Agonist Full agonist 9.5
4-fluorobenzoyl-FGLRW-NH2 Agonist Full agonist 9.2
kisspeptin-14 Agonist Full agonist 8.8
kisspeptin-28 Agonist Full agonist 8.8
[125I]kisspeptin-10 (human) Agonist Full agonist 8.7
kisspeptin-13 Agonist Full agonist 8.4
kisspeptin-9 Agonist Full agonist 7
peptide 234 Antagonist Antagonist
[125I]kisspeptin-14 (human) None None

(7) Novoseek inferred chemical compound relationships for KISS1R Gene

Compound -log(P) Hits PubMed IDs
gnrh 83.9 46
glyceraldehyde 3-phosphate 34.9 4
proline 12.9 2
calcium 0 1
tyrosine 0 1
genes like me logo Genes that share compounds with KISS1R: view

Transcripts for KISS1R Gene

mRNA/cDNA for KISS1R Gene

(1) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(16) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KISS1R Gene

KISS1 receptor:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KISS1R Gene

No ASD Table

Relevant External Links for KISS1R Gene

GeneLoc Exon Structure for
KISS1R
ECgene alternative splicing isoforms for
KISS1R

Expression for KISS1R Gene

mRNA expression in normal human tissues for KISS1R Gene

mRNA differential expression in normal tissues according to GTEx for KISS1R Gene

This gene is overexpressed in Brain - Hypothalamus (8.3) and Brain - Nucleus accumbens (basal ganglia) (4.5).

SOURCE GeneReport for Unigene cluster for KISS1R Gene Hs.208229

mRNA Expression by UniProt/SwissProt for KISS1R Gene

Q969F8-KISSR_HUMAN
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.
genes like me logo Genes that share expressions with KISS1R: view

Orthologs for KISS1R Gene

This gene was present in the common ancestor of animals.

Orthologs for KISS1R Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KISS1R 36
  • 98.32 (n)
  • 96.48 (a)
KISS1R 37
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KISS1R 36
  • 85.5 (n)
  • 83.82 (a)
KISS1R 37
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KISS1R 36
  • 89.6 (n)
  • 90.61 (a)
KISS1R 37
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kiss1r 36
  • 81.65 (n)
  • 82.58 (a)
Kiss1r 16
Kiss1r 37
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KISS1R 37
  • 53 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kiss1r 36
  • 80.51 (n)
  • 81.77 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 26 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia KISS1R 37
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiss1r 36
  • 63.92 (n)
  • 64.69 (a)
zebrafish
(Danio rerio)
Actinopterygii kiss1ra 37
  • 49 (a)
OneToMany
kiss1rb 36
  • 61.11 (n)
  • 54.09 (a)
kiss1rb 37
  • 48 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta GPRALS1 36
  • 54.74 (n)
  • 44.95 (a)
fruit fly
(Drosophila melanogaster)
Insecta AlstR 37
  • 30 (a)
ManyToMany
AR-2 37
  • 28 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea npr-9 37
  • 24 (a)
OneToMany
Species with no ortholog for KISS1R:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KISS1R Gene

ENSEMBL:
Gene Tree for KISS1R (if available)
TreeFam:
Gene Tree for KISS1R (if available)

Paralogs for KISS1R Gene

Selected SIMAP similar genes for KISS1R Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with KISS1R: view

Variants for KISS1R Gene

Sequence variations from dbSNP and Humsavar for KISS1R Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs184749 -- 916,737(+) ataat(A/G)aGGCT upstream-variant-2KB
rs350129 -- 917,874(+) TCCCC(C/T)CCAAC intron-variant
rs350130 -- 919,656(+) GGAGA(A/G)GGCGG intron-variant
rs350131 -- 920,170(+) GAGGC(G/T)CCGGT intron-variant
rs350132 - 920,642(+) GCTGC(A/T)CCGCC missense, reference

Structural Variations from Database of Genomic Variants (DGV) for KISS1R Gene

Variant ID Type Subtype PubMed ID
nsv470101 CNV Loss 18288195
dgv3513n71 CNV Loss 21882294
dgv3516n71 CNV Loss 21882294
dgv3550n71 CNV Loss 21882294
dgv3551n71 CNV Loss 21882294
dgv3552n71 CNV Loss 21882294
nsv910292 CNV Loss 21882294
nsv910310 CNV Loss 21882294
dgv3555n71 CNV Loss 21882294
dgv3558n71 CNV Loss 21882294
dgv3560n71 CNV Loss 21882294
dgv3561n71 CNV Loss 21882294
nsv910329 CNV Loss 21882294
dgv3562n71 CNV Loss 21882294
nsv910338 CNV Gain+Loss 21882294
nsv9662 CNV Gain 18304495
nsv910347 CNV Loss 21882294
dgv3563n71 CNV Loss 21882294
nsv910351 CNV Gain 21882294
dgv3564n71 CNV Loss 21882294
esv2665746 CNV Deletion 23128226
nsv482206 CNV Gain 20164927
nsv828358 CNV Gain 20364138
nsv828359 CNV Loss 20364138

Relevant External Links for KISS1R Gene

HapMap Linkage Disequilibrium report
KISS1R
Human Gene Mutation Database (HGMD)
KISS1R

Disorders for KISS1R Gene

(2) OMIM Diseases for KISS1R Gene (604161)

UniProtKB/Swiss-Prot

KISSR_HUMAN
  • 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}.
  • 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.

(3) University of Copenhagen DISEASES for KISS1R Gene

(12) Novoseek inferred disease relationships for KISS1R Gene

Disease -log(P) Hits PubMed IDs
kallmann syndrome 84.9 2
klinefelters syndrome 71.5 5
puberty delayed 70.1 1
hypogonadism 59.9 3
metastasis 53.4 24

Relevant External Links for KISS1R

GeneTests
KISS1R
GeneReviews
KISS1R
Genetic Association Database (GAD)
KISS1R
Human Genome Epidemiology (HuGE) Navigator
KISS1R
genes like me logo Genes that share disorders with KISS1R: view

Publications for KISS1R Gene

  1. Metastasis suppressor gene KiSS-1 encodes peptide ligand of a G- protein-coupled receptor. (PMID: 11385580) Ohtaki T. … Fujino M. (Nature 2001) 3 4 23
  2. AXOR12, a novel human G protein-coupled receptor, activated by the peptide KiSS-1. (PMID: 11387329) Muir A.I. … Harrison D.C. (J. Biol. Chem. 2001) 3 4 23
  3. Metastin receptor is overexpressed in papillary thyroid cancer and activates MAP kinase in thyroid cancer cells. (PMID: 11994395) Ringel M.D. … Saji M. (J. Clin. Endocrinol. Metab. 2002) 3 4 23
  4. Quantitative reverse transcriptase polymerase chain reaction analysis for KiSS-1 and orphan G-protein-coupled receptor (hOT7T175) gene expression in hepatocellular carcinoma. (PMID: 12898236) Ikeguchi M. … Kaibara N. (J. Cancer Res. Clin. Oncol. 2003) 3 4 23
  5. Hypogonadotropic hypogonadism due to loss of function of the KiSS1- derived peptide receptor GPR54. (PMID: 12944565) de Roux N. … Milgrom E. (Proc. Natl. Acad. Sci. U.S.A. 2003) 3 4 23

Products for KISS1R Gene

  • antibodies-online peptides for KISS1R
  • antibodies-online antibodies for KISS1R
  • antibodies-online kits for KISS1R

Sources for KISS1R Gene

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