Human Gene KISS1R (ENST00000234371.10_4) from GENCODE V47lift37 |
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 Sequence and Links to Tools and Databases
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Comments and Description Text from UniProtKB
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ID: KISSR_HUMAN
DESCRIPTION: RecName: Full=KiSS-1 receptor; Short=KiSS-1R; AltName: Full=G-protein coupled receptor 54; AltName: Full=G-protein coupled receptor OT7T175; Short=hOT7T175; AltName: Full=Hypogonadotropin-1; AltName: Full=Kisspeptins receptor; AltName: Full=Metastin receptor;
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.
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
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.
INDUCTION: Expressed at higher levels in first trimester trophoblasts than at term of gestation.
DISEASE: Defects in KISS1R are a cause of idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]. IHH is defined as a deficiency of the pituitary secretion of follicle-stimulating hormone and luteinizing hormone, which results in the impairment of pubertal maturation and of reproductive function.
DISEASE: Defects in KISS1R are a cause of central precocious puberty (CEPREPU) [MIM:176400]. Precocious puberty is defined as the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. Central precocious puberty refers to a gonadotropin-dependent type which results from premature activation of the hypothalamic-pituitary-gonadal axis.
SIMILARITY: Belongs to the G-protein coupled receptor 1 family.
WEB RESOURCE: Name=Protein Spotlight; Note=Tintin's blight - Issue 58 of May 2005; URL="http://web.expasy.org/spotlight/back_issues/sptlt058.shtml";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KISS1R";
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Primer design for this transcript
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MalaCards Disease Associations
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MalaCards Gene Search: KISS1R
Diseases sorted by gene-association score: hypogonadotropic hypogonadism 8 with or without anosmia* (1256), precocious puberty, central, 1* (979), normosmic congenital hypogonadotropic hypogonadism* (213), kallmann syndrome* (177), kiss1r-related isolated gonadotropin-releasing hormone deficiency* (100), hypogonadotropic hypogonadism (49), central precocious puberty (40), hypogonadism (38), precocious puberty (36), idiopathic central precocious puberty* (31), hypogonadotropism (7), gonadal disease (5)
* = Manually curated disease association
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Comparative Toxicogenomics Database (CTD)
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The following chemicals interact with this gene
- C029790
2,2',3',4,4',5-hexachlorobiphenyl
- C014024
2,4,5,2',4',5'-hexachlorobiphenyl
- C538758
2-aminoethyl diphenylborinate
- D000643
Ammonium Chloride
- D002118
Calcium
- D016572
Cyclosporine
- D005038
Ethylnitrosourea
- D005439
Flufenamic Acid
- C558013
NSC 689534
- C410127
PCB 180
more ... click here to view the complete list
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 Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
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mRNA Secondary Structure of 3' and 5' UTRs
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The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
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Protein Domain and Structure Information
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InterPro Domains: Graphical view of domain structure
IPR000276 - 7TM_GPCR_Rhodpsn
IPR017452 - GPCR_Rhodpsn_supfam
IPR008103 - KiSS_1_rcpt
Pfam Domains:
PF00001 - 7 transmembrane receptor (rhodopsin family)
PF10320 - Serpentine type 7TM GPCR chemoreceptor Srsx
SCOP Domains:
81321 - Family A G protein-coupled receptor-like
ModBase Predicted Comparative 3D Structure on Q969F8
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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Orthologous Genes in Other Species
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Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
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Gene Ontology (GO) Annotations with Structured Vocabulary
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Descriptions from all associated GenBank mRNAs
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BC141812 - Homo sapiens KISS1 receptor, mRNA (cDNA clone MGC:164830 IMAGE:40147721), complete cds.
AY253982 - Homo sapiens hypogonadotropin-1 (GPR54) mRNA, complete cds.
BC140825 - Homo sapiens KISS1 receptor, mRNA (cDNA clone MGC:176502 IMAGE:9021693), complete cds.
KJ895011 - Synthetic construct Homo sapiens clone ccsbBroadEn_04405 KISS1R gene, encodes complete protein.
AB051065 - Homo sapiens hot7t175 mRNA for G protein-coupled receptor, complete cds.
AF343725 - Homo sapiens G-protein-coupled receptor GPR54 (GPR54) mRNA, complete cds.
AJ309020 - Homo sapiens mRNA for G protein-coupled receptor (AXOR12 gene).
AY029541 - Homo sapiens putative G protein-coupled receptor mRNA, complete cds.
AY253981 - Homo sapiens hypogonadotropin-1 (GPR54) mRNA, complete cds.
EU883577 - Homo sapiens KISS1 receptor (KISS1R) mRNA, complete cds.
BC111094 - Homo sapiens cDNA clone IMAGE:40016819.
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Biochemical and Signaling Pathways
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Other Names for This Gene
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Alternate Gene Symbols: A5D8U2, AXOR12, B2RTV1, ENST00000234371.1, ENST00000234371.2, ENST00000234371.3, ENST00000234371.4, ENST00000234371.5, ENST00000234371.6, ENST00000234371.7, ENST00000234371.8, ENST00000234371.9, GPR54, KISSR_HUMAN, NM_032551, Q969F8, Q96QG0, uc317dzb.1, uc317dzb.2
UCSC ID: ENST00000234371.10_4
RefSeq Accession: NM_032551.5
Protein: Q969F8
(aka KISSR_HUMAN)
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GeneReviews for This Gene
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GeneReviews article(s) related to gene KISS1R:
kms (Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency)
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Gene Model Information
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for a detailed description of the fields of the table above.
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Methods, Credits, and Use Restrictions
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Click here
for details on how this gene model was made and data restrictions if any.
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US Server
