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KISS1R Gene

protein-coding   GIFtS: 65
GCID: GC19P000917

KISS1 Receptor

(Previous name: G protein-coupled receptor 54)
(Previous symbol: GPR54)
  See KISS1R-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
KISS1 Receptor1 2     HOT7T1752
GPR541 2 3 5     KISS-1R2
G Protein-Coupled Receptor 541 2     hypogonadotropin-12
Kisspeptins Receptor2 3     KiSS-1 Receptor2
Metastin Receptor2 3     Hypogonadotropin-13
AXOR122 3     KiSS-1R3
G-Protein Coupled Receptor OT7T1752 3     G-Protein Coupled Receptor 543
CPPB12 5     hOT7T1753
HH82 5     

External Ids:    HGNC: 45101   Entrez Gene: 846342   Ensembl: ENSG000001160147   OMIM: 6041615   UniProtKB: Q969F83   

Export aliases for KISS1R gene to outside databases

Previous GC identifers: GC19P000870 GC19P000694


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 kiss1r-related isolated gonadotropin-releasing hormone deficiency. GO annotations related to this gene include neuropeptide binding and neuropeptide receptor activity. An important paralog of this gene is SSTR3.

UniProtKB/Swiss-Prot: KISSR_HUMAN, Q969F8
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

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 (KiSS1-derived peptide receptor) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011295.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the KISS1R gene promoter:
         p53   AP-2beta   AP-2alpha   AP-2gamma   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKISS1R promoter sequence
   Search Chromatin IP Primers for KISS1R

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KISS1R


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

KISS1R Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KISS1R gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P000917:  view genomic region     (about GC identifiers)

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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: KISSR_HUMAN, Q969F8 (See protein sequence)
Recommended Name: KiSS-1 receptor  
Size: 398 amino acids; 42586 Da
Secondary accessions: A5D8U2 B2RTV1 Q96QG0

Explore the universe of human proteins at neXtProt for KISS1R: NX_Q969F8

Explore proteomics data for KISS1R at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn10, Asn18, Asn28
  • Modification sites at PhosphoSitePlus

  • See KISS1R Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_115940.2  
    ENSEMBL proteins: 
     ENSP00000467666   ENSP00000234371   ENSP00000475639  
    Reactome Protein details: Q969F8

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RFAPR: GPCR / Class A : RF amide peptide receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: kisspeptin receptor
    Kisspeptin receptor

    3 InterPro protein domains:
     IPR017452 GPCR_Rhodpsn_7TM
     IPR008103 KiSS_1_rcpt
     IPR000276 GPCR_Rhodpsn

    Graphical View of Domain Structure for InterPro Entry Q969F8

    ProtoNet protein and cluster: Q969F8

    1 Blocks protein domain: IPB008103 KiSS-1 peptide receptor signature

    UniProtKB/Swiss-Prot: KISSR_HUMAN, Q969F8
    Similarity: Belongs to the G-protein coupled receptor 1 family


    Find genes that share domains with KISS1R           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KISSR_HUMAN, Q969F8
    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
    Induction: Expressed at higher levels in first trimester trophoblasts than at term of gestation

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004930G-protein coupled receptor activity ----
    GO:0005515protein binding IPI11387329
    GO:0008188neuropeptide receptor activity IDA11387329
    GO:0008528G-protein coupled peptide receptor activity ----
    GO:0042923neuropeptide binding IEA--
         
    Find genes that share ontologies with KISS1R           About GenesLikeMe


    Phenotypes:
         14 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Kiss1r):
     behavior/neurological  digestive/alimentary  endocrine/exocrine gland  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 
     nervous system  normal  renal/urinary system  reproductive system 

    Find genes that share phenotypes with KISS1R           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for KISS1R: Kiss1rtm1.1Lex Kiss1rtm1Coll Kiss1rtm1Rla

       genOway: Develop your customized and physiologically relevant rodent model for KISS1R

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KISSR_HUMAN, Q969F8: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    nucleus2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0009986cell surface IEA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IDA11387329

    Find genes that share ontologies with KISS1R           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for KISS1R About    
    See pathways by source

    SuperPathContained pathways About
    1Peptide ligand-binding receptors
    Class A/1 (Rhodopsin-like receptors)0.71
    Peptide ligand-binding receptors0.60
    GPCR ligand binding0.71
    Neuroactive ligand-receptor interaction0.36
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    3Gastrin-CREB signalling pathway via PKC and MAPK
    Gastrin-CREB signalling pathway via PKC and MAPK0.90
    G alpha (q) signalling events0.90
    4Neuropeptides signaling through G protein alpha i and G protein alpha q
    Neuropeptides signaling through G protein alpha i and G protein alpha q0.46


    Find genes that share SuperPaths with KISS1R           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for KISS1R
        Peptide ligand-binding receptors
    G alpha (q) signalling events


    1 Kegg Pathway  (Kegg details for KISS1R):
        Neuroactive ligand-receptor interaction

        Pathway & Disease-focused RT2 Profiler PCR Arrays including KISS1R: 
              G Protein Coupled Receptors 384HT in human mouse rat
              Tumor Metastasis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for KISS1R

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for KISS1R (Q969F81, 2, 3 ENSP000002343714) via UniProtKB, MINT, STRING, and/or I2D (see all 125)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP2CAP677751, 2, 3, ENSP000004184474EBI-8481408,EBI-712311 MINT-7233712 MINT-7233675 MINT-7233692 I2D: score=1 STRING: ENSP00000418447
    KISS1Q157263, ENSP000003561624I2D: score=3 STRING: ENSP00000356162
    ADRA1BENSP000003066624STRING: ENSP00000306662
    ADRA1DENSP000003687664STRING: ENSP00000368766
    ADRBK1ENSP000003122624STRING: ENSP00000312262
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000186activation of MAPKK activity IEA--
    GO:0007165signal transduction ----
    GO:0007186G-protein coupled receptor signaling pathway NAS11387329
    GO:0007218neuropeptide signaling pathway IDA11387329
    GO:0007610behavior NAS11387329

    Find genes that share ontologies with KISS1R           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for KISS1R available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Metastin (human) Potent, endogenous ligand for KISS1 receptor (hOT7T175/AXOR12/GPR54) [374683-24-6]
    Kisspeptin 234KISS1/GPR54 antagonist; kisspeptin 10 (Cat. No. 2570) analog[1145998-81-7]
    Kisspeptin 10 (rat)Endogenous ligand for KISS1 receptor[478507-53-8]
    Kisspeptin 10 (human)Endogenous ligand for KISS1 receptor (hOT7T175/AXOR12/GPR54)[374675-21-5]

    1 HMDB Compound for KISS1R    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Selected IUPHAR Ligands for KISS1R (kisspeptin receptor) (see all 14)    About this table
    LigandTypeActionAffinityPubmed IDs
    kisspeptin-10
    AgonistFull agonist8.6 - 10.411457843 11385580
    kisspeptin-15
    AgonistFull agonist1011385580
    [125I]Tyr45-kisspeptin-15
    AgonistFull agonist1011385580
    [125I]kisspeptin-54 (human)
    AgonistFull agonist1011385580
    [125I]kisspeptin-13 (human)
    AgonistFull agonist9.717023533
    kisspeptin-54
    AgonistFull agonist8.8 - 9.511457843 11385580
    4-fluorobenzoyl-FGLRW-NH2
    AgonistFull agonist9.218302161
    kisspeptin-14
    AgonistFull agonist8.811457843
    kisspeptin-28
    AgonistFull agonist8.811457843
    [125I]kisspeptin-10 (human)
    AgonistFull agonist8.711457843

    7 Novoseek inferred chemical compound relationships for KISS1R gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gnrh 83.9 77 16469799 (3), 17698953 (3), 17161329 (3), 19554077 (2) (see all 34)
    glyceraldehyde 3-phosphate 34.9 4 14977840 (1), 17442564 (1), 19331211 (1), 12898236 (1)
    proline 12.9 2 18272894 (1), 16322390 (1)
    calcium 0 1 17266198 (1)
    tyrosine 0 1 19201817 (1)
    alanine 0 2 16242330 (1), 17266198 (1)
    nmda 0 3 16469799 (1)



    Find genes that share compounds with KISS1R           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KISS1R gene: 
    NM_032551.4  

    Unigene Cluster for KISS1R:

    KISS1 receptor
    Hs.208229  [show with all ESTs]
    Unigene Representative Sequence: BC141812
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000592648 ENST00000234371(uc002lqk.4) ENST00000606939
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    Additional mRNA sequence: 

    AB051065.1 AF343725.1 AJ309020.1 AY029541.1 AY253981.1 AY253982.1 BC140825.1 BC141812.1 
    EU883577.1 

    2 DOTS entries:

    DT.75139537  DT.102820566 

    16 AceView cDNA sequences:

    AB051065 AY029541 AY253981 AJ309020 NM_032551 AY253982 CR621438 AF343725 
    AL541044 BV192553 CA432866 AA887801 CA487873 AL568705 AI819198 AI823800 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KISS1R expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTCAACACA
    KISS1R Expression
    About this image

    KISS1R Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KISS1R Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.208229

    UniProtKB/Swiss-Prot: KISSR_HUMAN, Q969F8
    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including KISS1R: 
              G Protein Coupled Receptors 384HT in human mouse rat
              Tumor Metastasis in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for KISS1R gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kiss1r1 , 5 KISS1 receptor1, 5 81.65(n)1
    82.58(a)1
      10 (39.72 cM)5
    1142291  NM_053244.51  NP_444474.11 
     799169715 
    chicken
    (Gallus gallus)
    Aves --
    Gallus gallus galanin receptor type 1-like (LOC415...
    26(a)
    many ↔ many
    11(2905926-2921109)
    lizard
    (Anolis carolinensis)
    Reptilia KISS1R6
    KISS1 receptor
    49(a)
    1 ↔ 1
    2(102911047-102925331)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia kiss1r1 KISS1 receptor 63.92(n)
    64.69(a)
      100316929  NM_001170514.1  NP_001163985.1 
    zebrafish
    (Danio rerio)
    Actinopterygii kiss1rb1 KISS1 receptor b 61.11(n)
    54.09(a)
      100002715  NM_001110531.1  NP_001104001.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta AlstR6
    AR-26
    Allatostatin Receptor 2
    30(a)
    28(a)
    many ↔ many
    many ↔ many
    X(3468569-3560757)
    3R(24562831-24570485)
    worm
    (Caenorhabditis elegans)
    Secernentea npr-96
    Protein NPR-9 (npr-9) mRNA, complete cds
    24(a)
    1 → many
    X(11328591-11332072) WBGene00013974


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KISS1R gene
    SSTR32  OPRL12  OPRK12  NPBWR12  OPRD12  GALR12  SSTR42  GALR22  
    SSTR52  MCHR22  SSTR12  GALR32  SSTR22  MCHR12  OPRM12  NPBWR22  
    17 SIMAP similar genes for KISS1R using alignment to 3 protein entries:     KISSR_HUMAN (see all proteins):
    CCR3    GHSR    ADORA2A    GALR2    GALR1    PRLHR
    CCR5    OPRK1    SSTR1    SSTR4    SSTR5    GALR3
    GPR18    NPBWR1    OPRD1    OPRL1    SSTR2

    Find genes that share paralogs with KISS1R           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KISS1R (see all 137)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289397191,2,,4
    CHypogonadotropic hypogonadism 8 with or without anosmia (HH8)4 pathogenic1919563(+) CCCGTC/TGCGCG 2 S L mis10--------
    VAR_0699624
    Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)4--see VAR_0699622 A D mis40--------
    VAR_0439074
    Precocious puberty, central 1 (CPPB1)4--see VAR_0439072 R P mis40--------
    VAR_0213934
    Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)4--see VAR_0213932 C R mis40--------
    VAR_0213944
    Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)4--see VAR_0213942 R L mis40--------
    VAR_0439064
    Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)4--see VAR_0439062 L P mis40--------
    VAR_0699614
    Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)4--see VAR_0699612 A T mis40--------
    rs1048947031,2
    Cpathogenic1918604(+) CCTGCC/TGTACC 2 P L mis10--------
    rs1048947011,2
    Cpathogenic1920542(+) ACTTCC/TGACAG 2 R * stg10--------
    rs1048947021,2
    Cpathogenic1920746(+) CTCTCA/TGAGCG 2 R * stop-lost0--------

    HapMap Linkage Disequilibrium report for KISS1R (917287 - 921015 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KISS1R (see all 24):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2665746CNV Deletion23128226
    nsv828359CNV Loss20364138
    nsv910329CNV Loss21882294
    nsv470101CNV Loss18288195
    dgv3561n71CNV Loss21882294
    dgv3550n71CNV Loss21882294
    nsv910292CNV Loss21882294
    dgv3558n71CNV Loss21882294
    dgv3555n71CNV Loss21882294
    dgv3552n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): KISS1R
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KISS1R
    DNA2.0 Custom Variant and Variant Library Synthesis for KISS1R

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604161   
    OMIM disorders: 614837  176400  
    UniProtKB/Swiss-Prot: KISSR_HUMAN, Q969F8
  • 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). 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)
  • 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. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 13 diseases for KISS1R:    
    About MalaCards
    precocious puberty, central, 1    kiss1r-related isolated gonadotropin-releasing hormone deficiency    hypogonadotropic hypogonadism 8 with or without anosmia    central precocious puberty
    precocious puberty    hypothalamic hamartomas    opisthorchiasis    hypogonadism
    hypogonadotropism    kallmann syndrome    hypogonadotropic hypogonadism 17 with or without anosmia    thyroid cancer
    pancreatic cancer

    3 diseases from the University of Copenhagen DISEASES database for KISS1R:
    Klinefelter's syndrome     Hypogonadism     Hypogonadotropism

    Find genes that share disorders with KISS1R           About GenesLikeMe

    Selected Novoseek inferred disease relationships for KISS1R gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kallmann syndrome 84.9 2 16606836 (1), 15554891 (1)
    klinefelters syndrome 71.5 6 17164310 (2), 15598687 (1), 20237166 (1), 17624596 (1)
    puberty delayed 70.1 1 19228890 (1)
    hypogonadism 59.9 3 16302709 (2), 19554077 (1)
    metastasis 53.4 27 14977840 (3), 19286835 (2), 16277902 (2), 12650602 (1) (see all 20)
    papillary thyroid cancer 38.9 1 11994395 (1)
    carcinoma renal cell 23.7 5 18395323 (1), 18395325 (1), 18395329 (1), 18834661 (1) (see all 5)
    cancer 23 3 15013429 (1), 18550222 (1), 17206526 (1)
    thyroid cancer 22.5 7 11994395 (5), 15998767 (2)
    tumors 21.5 35 14977840 (3), 19154616 (3), 16277902 (2), 12650602 (1) (see all 15)

    GeneTests: KISS1R
    GeneReviews: KISS1R
    Genetic Association Database (GAD): KISS1R
    Human Genome Epidemiology (HuGE) Navigator: KISS1R (10 documents)

    Export disorders for KISS1R gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for KISS1R gene, integrated from 10 sources (see all 169):
    (articles sorted by number of sources associating them with KISS1R)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Role of sequence variations of the GnRH receptor and G protein-coupled receptor 54 gene in male idiopathic hypogonadotropic hypogonadism. (PubMed id 16322390)1, 4, 9 Lanfranco F....Simoni M. (Eur. J. Endocrinol. 2005)
    2. Metastin receptor is overexpressed in papillary thyroid cancer and activates MAP kinase in thyroid cancer cells. (PubMed id 11994395)1, 2, 9 Ringel M.D.... Saji M. (J. Clin. Endocrinol. Metab. 2002)
    3. AXOR12, a novel human G protein-coupled receptor, activated by the peptide KiSS-1. (PubMed id 11387329)1, 2, 9 Muir A.I.... Harrison D.C. (J. Biol. Chem. 2001)
    4. Clinical significance of the loss of KiSS-1 and orphan G-protein- coupled receptor (hOT7T175) gene expression in esophageal squamous cell carcinoma. (PubMed id 14977840)1, 2, 9 Ikeguchi M.... Kaibara N. (Clin. Cancer Res. 2004)
    5. The GPR54 gene as a regulator of puberty. (PubMed id 14573733)1, 2, 9 Seminara S.B.... Colledge W.H. (N. Engl. J. Med. 2003)
    6. Hypogonadotropic hypogonadism due to loss of function of the KiSS1- derived peptide receptor GPR54. (PubMed id 12944565)1, 2, 9 de Roux N....Milgrom E. (Proc. Natl. Acad. Sci. U.S.A. 2003)
    7. Quantitative reverse transcriptase polymerase chain reaction analysis for KiSS-1 and orphan G-protein-coupled receptor (hOT7T175) gene expression in hepatocellular carcinoma. (PubMed id 12898236)1, 2, 9 Ikeguchi M.... Kaibara N. (J. Cancer Res. Clin. Oncol. 2003)
    8. Transcriptional expression of genes involved in cell invasion and migration by normal and tumoral trophoblast cells. (PubMed id 12414911)1, 2, 9 Janneau J.-L.... Bellet D. (J. Clin. Endocrinol. Metab. 2002)
    9. Two novel missense mutations in G protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism. (PubMed id 15598687)1, 2, 9 Semple R.K.... Aparicio S.A. (J. Clin. Endocrinol. Metab. 2005)
    10. Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome. (PubMed id 18682503)1, 4, 9 Abreu A.P....Latronico A.C. (J. Clin. Endocrinol. Metab. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 84634 HGNC: 4510 AceView: GPR54 Ensembl:ENSG00000116014 euGenes: HUgn84634
    ECgene: KISS1R Kegg: 84634 H-InvDB: KISS1R

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KISS1R Pharmacogenomics, SNPs, Pathways
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/058
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=KISS1R[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KISS1R gene:
    Search GeneIP for patents involving KISS1R

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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