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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KISS1R Gene

protein-coding   GIFtS: 64
GCID: GC19P000917

KISS1 Receptor

(Previous name: G protein-coupled receptor 54)
(Previous symbol: GPR54)
  See 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)
About This Section

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     hOT7T1753
HH82     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 central precocious puberty, and kiss1r-related isolated gonadotropin-releasing hormone deficiency, and among its related super-pathways are GPCR ligand binding and Signaling by GPCR. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.2  NT_011255.14  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for KISS1R

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KISSR_HUMAN, Q969F8 (See protein sequence)
Recommended Name: KiSS-1 receptor  
Size: 398 amino acids; 42586 Da
Subcellular location: Cell membrane; Multi-pass membrane protein
Secondary accessions: A5D8U2 B2RTV1 Q96QG0

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

Explore proteomics data for KISS1R at MOPED 

KISS1R Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

KISS1R Protein Expression

REFSEQ proteins: NP_115940.2  
ENSEMBL proteins: 
 ENSP00000467666   ENSP00000234371   ENSP00000475639  
Reactome Protein details: Q969F8
Human Recombinant Protein Products for KISS1R: 
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Cloud-Clone Corp. Proteins for KISS1R 

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

KISS1R for ontologies           About GeneDecksing



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Cloud-Clone Corp. ELISAs for KISS1R 
Cloud-Clone Corp. CLIAs for KISS1R


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
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


KISS1R for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

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 (GO ID links to tree view):    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--
     
KISS1R for ontologies           About GeneDecksing


Phenotypes:
     14 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Kiss1r):
 behavior/neurological  digestive/alimentary  endocrine/exocrine gland  growth/size  hematopoietic system 
 homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 
 nervous system  normal  renal/urinary system  reproductive system 

KISS1R for phenotypes           About GeneDecksing

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

   inGenious Targeting Laboratory - Custom generated mouse model solutions for KISS1R 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KISS1R

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KISS1R 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KISS1R 

miRNA
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Inhib. RNA
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Gene Editing
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GenScript: all cDNA clones in your preferred vector: KISS1R (NM_032551)
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Cell Line
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KISS1R


(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for KISS1R About                                                                                                See pathways by source

SuperPathContained pathways About
1Class A/1 (Rhodopsin-like receptors)
Class A/1 (Rhodopsin-like receptors)0.71
Peptide ligand-binding receptors0.60
GPCR ligand binding0.71
Neuroactive ligand-receptor interaction0.37
2Signaling by GPCR
Signaling by GPCR0.90
Signal Transduction0.55
GPCR downstream signaling0.90
3G alpha (q) signalling events
Gastrin-CREB signalling pathway via PKC and MAPK0.90
G alpha (q) signalling events0.90
4Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q
Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q0.46

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

1 EMD Millipore Pathway for KISS1R
    Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q


5/8        Reactome Pathways for KISS1R (see all 8)
    GPCR downstream signaling
Peptide ligand-binding receptors
Gastrin-CREB signalling pathway via PKC and MAPK
Signaling by GPCR
GPCR ligand binding


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


KISS1R for pathways           About GeneDecksing

Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KISS1R

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

5/124 Interacting proteins for KISS1R (Q969F82, 3 ENSP000002343714) via UniProtKB, MINT, STRING, and/or I2D (see all 124)
InteractantInteraction Details
GeneCardExternal ID(s)
PPP2CAP677752, 3, ENSP000004184474MINT-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): 5/11 biological process terms (GO ID links to tree view) (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

KISS1R for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

KISS1R for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

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--

10/14 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)

Search CenterWatch for drugs/clinical trials and news about KISS1R / KISSR

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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
miRNA
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Inhib. RNA
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Sirion Biotech Customized lentivirus for stable overexpression of KISS1R 
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  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KISS1R
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KISS1R

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:

NM_032551 AY253982 CR621438 AB051065 AY253981 AJ309020 AY029541 BV192553 
AL541044 AF343725 CA432866 AI819198 AL568705 CA487873 AA887801 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

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


See KISS1R Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KISS1R

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

    SABiosciences Expression via Pathway-Focused PCR Arrays including KISS1R: 
          G Protein Coupled Receptors 384HT in human mouse rat
          Tumor Metastasis in human mouse rat

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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KISS1R
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KISS1R

(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)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for KISS1R gene from 5/12 species (see all 12)    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 
lizard
(Anolis carolinensis)
Reptilia KISS1R6
Uncharacterized protein
49(a)
1 ↔ 1
2(102911047-102925331)
zebrafish
(Danio rerio)
Actinopterygii kiss1ra1 KISS1 receptor a 61.52(n)
58.05(a)
  561898  NM_001105679.1  NP_001099149.1 
fruit fly
(Drosophila melanogaster)
Insecta AR-26
AlstR6
Allatostatin Receptor
28(a)
27(a)
many ↔ many
many ↔ many
3R(24562831-24570485)
X(3468569-3560757)
worm
(Caenorhabditis elegans)
Secernentea npr-96
Protein NPR-9
22(a)
1 → many
X(11328591-11332072)


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  
11 SIMAP similar genes for KISS1R using alignment to 2 protein entries:     KISSR_HUMAN (see all proteins):
GALR2    GALR1    PRLHR    OPRK1    SSTR1    SSTR4
GALR3    NPBWR1    OPRD1    OPRL1    SSTR2

KISS1R for paralogs           About GeneDecksing



(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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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10/135 SNPs in KISS1R are shown (see all 135)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 19 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0439074
Central precocious puberty (CEPREPU)4--see VAR_0439072 R P mis40--------
VAR_0213944
Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)4--see VAR_0213942 R L mis40--------
VAR_0213934
Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)4--see VAR_0213932 C R mis40--------
VAR_0439064
Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)4--see VAR_0439062 L P mis40--------
rs289397191,2,4
CHypogonadotropic hypogonadism 8 with or without anosmia (HH8)4 pathogenic1919563(+) CCCGTC/TGCGCG 2 S L mis10--------
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--------
rs1465828111,2
--915431(+) TTTCTA/GTATTT 1 -- us2k10--------
rs2016378271,2
--915565(+) ATTCA-/TTTTTT 1 -- us2k10--------

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

Structural Variations
     Database of Genomic Variants (DGV) 10/24 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
SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 604161   
OMIM disorders: 146110  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 the gene represented in this entry
  • Central precocious puberty (CEPREPU) [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

  • 20/39 diseases for KISS1R (see all 39):    About MalaCards
    central precocious puberty    kiss1r-related isolated gonadotropin-releasing hormone deficiency    hypogonadotropic hypogonadism 8 with or without anosmia    hypogonadotropism
    precocious puberty    hypogonadism    isolated gonadotropin-releasing hormone deficiency    down syndrome critical region
    klinefelter's syndrome    kallmann syndrome    thyroid cancer    down syndrome
    pertussis    pancreatic cancer    transitional cell carcinoma    sensorineural hearing loss
    esophageal squamous cell carcinoma    pituitary adenoma    cleft palate    hepatocellular carcinoma

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

    KISS1R for disorders           About GeneDecksing

    10/12 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)
    About This Section

    PubMed articles for KISS1R gene, integrated from 9 sources (see all 163):
    (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. (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. (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. (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. (2004)
    5. The GPR54 gene as a regulator of puberty. (PubMed id 14573733)1, 2, 9 Seminara S.B.... Colledge W.H. (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. (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. (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. (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. (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. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84634 HGNC: 4510 AceView: GPR54 Ensembl:ENSG00000116014 euGenes: HUgn84634
    ECgene: KISS1R Kegg: 84634 H-InvDB: KISS1R

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KISS1R Pharmacogenomics, SNPs, Pathways
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/sptlt058.shtml
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KISS1R

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KISS1R gene:
    Search GeneIP for patents involving KISS1R

    GeneCards and IP:
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