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Aliases for KISS1R Gene

Aliases for KISS1R Gene

  • KISS1 Receptor 2 3 5
  • 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
  • GPR54 3 4
  • G-Protein Coupled Receptor 54 4
  • CPPB1 3
  • HH8 3

External Ids for KISS1R Gene

Previous HGNC Symbols for KISS1R Gene

  • GPR54

Previous GeneCards Identifiers for KISS1R Gene

  • GC19P000870
  • GC19P000694

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 Precocious Puberty, Central, 1 and Hypogonadotropic Hypogonadism 8 With Or Without Anosmia. Among its related pathways are Peptide ligand-binding receptors and Interleukin-3, 5 and GM-CSF signaling. GO annotations related to this gene include G-protein coupled receptor activity and neuropeptide receptor activity. 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 kisspeptin receptor (also known as the KISS1 receptor) is a Gq/G11-protein-coupled receptor that signals through stimulation of phospholipase C. The kisspeptin receptor plays a key role in the neuroendocrine control of the gonadotrophin axis.

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

Regulatory Elements for KISS1R Gene

Enhancers for KISS1R Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KISS1R on UCSC Golden Path with GeneCards custom track

Promoters for KISS1R Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KISS1R on UCSC Golden Path with GeneCards custom track

Genomic Location for KISS1R Gene

Chromosome:
19
Start:
917,287 bp from pter
End:
921,015 bp from pter
Size:
3,729 bases
Orientation:
Plus strand

Genomic View for KISS1R Gene

Genes around KISS1R on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KISS1R Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KISS1R Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Glycosylation at Asn 10, Asn 18, and Asn 28
  • Modification sites at PhosphoSitePlus

Other Protein References for KISS1R Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for KISS1R (KISS1R)

No data available for DME Specific Peptides for KISS1R Gene

Domains & Families for KISS1R Gene

Gene Families for KISS1R Gene

Protein Domains for KISS1R Gene

Suggested Antigen Peptide Sequences for KISS1R Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q969F8

UniProtKB/Swiss-Prot:

KISSR_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family.
Family:
  • Belongs to the G-protein coupled receptor 1 family.
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 IEA --
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

Human Phenotype Ontology for KISS1R Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KISS1R Gene

MGI Knock Outs for KISS1R:

Animal Model Products

  • Taconic Biosciences Mouse Models for KISS1R

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets 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
extracellular 1

Gene Ontology (GO) - Cellular Components for KISS1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with KISS1R: view

Pathways & Interactions for KISS1R Gene

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

Pathways by source for KISS1R Gene

SIGNOR curated interactions for KISS1R Gene

Is activated by:

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 IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA,NAS 11387329
GO:0046887 positive regulation of hormone secretion IEA --
GO:0050806 positive regulation of synaptic transmission IEA --
genes like me logo Genes that share ontologies with KISS1R: view

Drugs & Compounds for KISS1R Gene

(19) Drugs for KISS1R Gene - From: DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
[<sup>125</sup>I]kisspeptin-10 (human) Pharma Full agonist, Agonist 0
[<sup>125</sup>I]kisspeptin-13 (human) Pharma Full agonist, Agonist 0
[<sup>125</sup>I]kisspeptin-14 (human) Pharma 0
[<sup>125</sup>I]kisspeptin-54 (human) Pharma Full agonist, Agonist 0
[<sup>125</sup>I]Tyr<sup>45</sup>-kisspeptin-15 Pharma Full agonist, Agonist 0

(7) Additional Compounds for KISS1R Gene - From: Tocris and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Kisspeptin 10 (dog)
Kisspeptin 10 (human)
374675-21-5
Kisspeptin 10 (rat)
478507-53-8
Kisspeptin 234
1145998-81-7
Metastin (human)
374683-24-6

(5) Tocris Compounds for KISS1R Gene

Compound Action Cas Number
Kisspeptin 10 (dog) Endogenous ligand for canine kisspeptin receptor
Kisspeptin 10 (human) Endogenous ligand for kisspeptin receptor 374675-21-5
Kisspeptin 10 (rat) Endogenous ligand for kisspeptin receptor 478507-53-8
Kisspeptin 234 Kisspeptin receptor antagonist; kisspeptin 10 (Cat. No. 2570) analog 1145998-81-7
Metastin (human) Potent, endogenous ligand for kisspeptin receptor 374683-24-6
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 (x8.3) and Brain - Nucleus accumbens (basal ganglia) (x4.5).

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 expression patterns with KISS1R: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for KISS1R Gene

Orthologs for KISS1R Gene

This gene was present in the common ancestor of animals.

Orthologs for KISS1R Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KISS1R 35
  • 85.5 (n)
  • 83.82 (a)
KISS1R 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KISS1R 35
  • 89.6 (n)
  • 90.61 (a)
KISS1R 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kiss1r 35
  • 81.65 (n)
  • 82.58 (a)
Kiss1r 16
Kiss1r 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KISS1R 35
  • 98.32 (n)
  • 96.48 (a)
KISS1R 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kiss1r 35
  • 80.51 (n)
  • 81.77 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia KISS1R 36
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 36
  • 26 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia KISS1R 36
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiss1r 35
  • 63.92 (n)
  • 64.69 (a)
zebrafish
(Danio rerio)
Actinopterygii kiss1rb 35
  • 61.11 (n)
  • 54.09 (a)
kiss1ra 36
  • 49 (a)
OneToMany
kiss1rb 36
  • 48 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta GPRALS1 35
  • 54.74 (n)
  • 44.95 (a)
fruit fly
(Drosophila melanogaster)
Insecta AlstR 36
  • 30 (a)
ManyToMany
AR-2 36
  • 28 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea npr-9 36
  • 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

(17) 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
rs28939719 Hypogonadotropic hypogonadism 8 with or without anosmia (HH8) 919,563(+) CCCGT(C/T)GCGCG reference, missense
VAR_021393 Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)
VAR_021394 Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)
rs350132 - 920,642(+) GCTGC(A/T)CCGCC reference, missense
VAR_043906 Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)

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

Variation tolerance for KISS1R Gene

Gene Damage Index Score: 2.42; 42.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KISS1R Gene

Human Gene Mutation Database (HGMD)
KISS1R

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KISS1R Gene

Disorders for KISS1R Gene

MalaCards: The human disease database

(14) MalaCards diseases for KISS1R Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for KISS1R

Genetic Association Database (GAD)
KISS1R
Human Genome Epidemiology (HuGE) Navigator
KISS1R
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KISS1R
genes like me logo Genes that share disorders with KISS1R: view

No data available for Genatlas for KISS1R Gene

Publications for KISS1R Gene

  1. Role of sequence variations of the GnRH receptor and G protein-coupled receptor 54 gene in male idiopathic hypogonadotropic hypogonadism. (PMID: 16322390) Lanfranco F. … Simoni M. (Eur. J. Endocrinol. 2005) 3 23 48 67
  2. Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1. (PMID: 19489874) Trarbach E.B. … Latronico A.C. (Clin. Endocrinol. (Oxf) 2010) 3 23
  3. Mutations of the KISS1 gene in disorders of puberty. (PMID: 20237166) Silveira L.G. … Latronico A.C. (J. Clin. Endocrinol. Metab. 2010) 3 23
  4. Metastin inhibits migration and invasion of renal cell carcinoma with overexpression of metastin receptor. (PMID: 18395325) Shoji S. … Terachi T. (Eur. Urol. 2009) 3 23
  5. KiSS1 metastasis suppressor gene product induces suppression of tyrosine kinase receptor signaling to Akt, tumor necrosis factor family ligand expression, and apoptosis. (PMID: 19201817) Navenot J.M. … Peiper S.C. (Mol. Pharmacol. 2009) 3 23

Products for KISS1R Gene

Sources for KISS1R Gene

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