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FLASH GENE
Symbol KISS1R contributors: mct/npt/shn - updated : 22-01-2015
HGNC name KISS1 receptor
HGNC id 4510
Corresponding disease
HHI1 hypogonadism hypogonadotropic isolated 1
PPC precocious puberty, central
Location 19p13.3      Physical location : 917.341 - 921.014
Genatlas name
  • G protein-coupled receptor 54
  • G-protein coupled receptor OT7T175
  • kisspeptins receptor
  • Synonym name
  • metastin receptor
  • G protein-coupled receptor 54
  • kisspeptin-54
  • hypogonadotropin-1
  • Synonym symbol(s) AXOR12, GPR54, HOT7T175, KiSS-1R
    DNA
    TYPE functioning gene
    STRUCTURE 3.67 kb     5 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map pter - KISS1R - D19S886 - D19S883 - cen
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 1650 42.45 398 - 2008 18977201
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  lowly Homo sapiens
     stomach   lowly Homo sapiens
    Endocrinepancreas   highly Homo sapiens
    Lymphoid/Immunespleen   lowly Homo sapiens
     thymus   moderately Homo sapiens
    Nervousbrainbasal nucleicorpus callosum lowly Homo sapiens
     brainhindbraincerebellum lowly Homo sapiens
     braindiencephalonamygdala highly Homo sapiens
     brainlimbic systemhippocampus highly Homo sapiens
     brainmidbrainsubstantia nigra highly Homo sapiens
     brainbasal nucleicaudate nucleus moderately Homo sapiens
     braindiencephalonthalamus highly Homo sapiens
     brain   lowly Homo sapiens
     spinal cord   moderately Homo sapiens
    Reproductivefemale systemplacenta  highly Homo sapiens
     female systemuterus    Homo sapiens
     male systemtestis  lowly Homo sapiens
    Respiratorylung   lowly Homo sapiens
    Urinarykidney   lowly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningendometrium   Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period growth/childhood, pregnancy
    Text fetal liver and brain (
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • seven transmembrane segments (7TM) receptor
  • C-terminal cytoplasmic domain with a segment rich in proline and arginine residues that corresponds to the primary structure of four overlapping SH3 binding motifs (may form complexes involving the catalytic subunit of PP2A (PPP2CA) that regulate phosphorylation of critical signaling intermediates)
  • HOMOLOGY
    interspecies ortholog to Kiss1r, Mus musculus
    ortholog to Kiss1r, Rattus norvegicus
    ortholog to KISS1R, Pan troglodytes
    Homologene
    FAMILY
  • rhodopsin family of G protein coupled receptor
  • CATEGORY signaling neurotransmitter , receptor membrane G
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • G protein coupled receptor regulating endocrine function and puberty
  • essential for the development and maintenance of reproductive function in mammals
  • implicated in the regulation of pubertal and adulthood gonadotropin-releasing hormone (GnRH) secretion
  • necessary for proper male-like development of several sexually dimorphic traits, likely by regulating GNRH-mediated androgen secretion in perinatal development
  • playing with KISS1 a major role in the physiology of the gonadotrophic axis and as a relevant downstream element in the neuroendocrine network governing LH secretion
  • stimulates the hypothalamic-pituitary gonadal axis in males
  • key regulator of puberty and reproductive function
  • initiation and completion of reproductive maturation can occur in the absence of kisspeptin/GPR54 signaling
  • KISS1/KISS1R signaling is critical for regulating the activity of gonadotropin-releasing hormone (GNRH1) neurons in mammals
  • KISS1 is a metastasis suppressor gene of pancreatic cancer, and this suppression is not dependent on the expression levels of KISS1R
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    Signaling between KISS1/KISS1R is now recognized as being essential for normal fertility
    a component kisspeptin/KISS1R system appears to play an important role in the regulation of reproduction
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding metastin truncated form of KISS1 (receptor of KISS1)
  • catalytic subunit of protein phosphatase 2A (PP2A-C) is an interacting protein
  • (KISS1/KISS1R signalling may suppress the invasive phenotype of epithelial ovarian cancer)
  • KISS1R regulates ERK1/2 activity and hypothalamic gene expression in a GNAQ/GNA11 and ARRB-dependent manner
  • KISS1, KISS1R play a major role in trophoblast invasion, and progesterone-induced blocking factor (PIBF1) is needed for maintaining pregnancy
  • interaction of KISS1 with KISS1R suppresses metastasis and also regulates release of gonadotropin-releasing hormone, which promotes secretion of estradiol (E2) and progesterone (P4)
  • cell & other
    REGULATION
    activated by KISS1 for decreased cellular motlilty
    ASSOCIATED DISORDERS
    corresponding disease(s) HHI1 , PPC
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    potently stimulates LH release in the preovulatory phase and provides a novel mechanism for manipulation of the hypothalamo-pituitary-gonadal (HPG) axis in women
    constitutional germinal mutation      
    activating mutation in a patient with central precocious puberty
    constitutional     --over  
    because promoter is unmethylated in atypical endometrial hyperplasia (AEH)
    tumoral     --over  
    KISS1/KISS1R expression was found to be significantly higher in breast cancer compared to non-malignant mammary tissues
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target target for therapeutic manipulation of the hypothalamo-pituitary-gonadal HPG axis (for the treatment of women with amenorrhea causing infertility)
    SystemTypeDisorderPubmed
    reproductionfertility 
    target for therapeutic manipulation of the hypothalamo-pituitary-gonadal HPG axis (for the treatment of women with amenorrhea causing infertility)
    ANIMAL & CELL MODELS
  • defective negative feedback in global Gpr54-null mice that cannot be attributed to a lack of prior exposure of the GnRH neuronal network to cyclical estradiol3)