Human Gene KISS1 (ENST00000367194.5_8) from GENCODE V47lift37
  Description: KiSS-1 metastasis suppressor (from RefSeq NM_002256.4)
Gencode Transcript: ENST00000367194.5_8
Gencode Gene: ENSG00000170498.10_10
Transcript (Including UTRs)
   Position: hg19 chr1:204,159,469-204,165,619 Size: 6,151 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr1:204,159,612-204,162,004 Size: 2,393 Coding Exon Count: 2 

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Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:204,159,469-204,165,619)mRNA (may differ from genome)Protein (138 aa)
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-  Comments and Description Text from UniProtKB
  ID: KISS1_HUMAN
DESCRIPTION: RecName: Full=Metastasis-suppressor KiSS-1; AltName: Full=Kisspeptin-1; Contains: RecName: Full=Metastin; AltName: Full=Kisspeptin-54; Contains: RecName: Full=Kisspeptin-14; Contains: RecName: Full=Kisspeptin-13; Contains: RecName: Full=Kisspeptin-10; Flags: Precursor;
FUNCTION: Metastasis suppressor protein in malignant melanomas and in some breast cancers. May regulate events downstream of cell- matrix adhesion, perhaps involving cytoskeletal reorganization. Generates a C-terminally amidated peptide, metastin which functions as the endogenous ligand of the G-protein coupled receptor GPR54. Activation of the receptor inhibits cell proliferation and cell migration, key characteristics of tumor metastasis. Kp-10 is a decapeptide derived from the primary translation product, isolated in conditioned medium of first trimester trophoblast. Kp-10, but not other kisspeptins, increased intracellular Ca(2+) levels in isolated first trimester trophoblasts. Kp-10 is a paracrine/endocrine regulator in fine- tuning trophoblast invasion generated by the trophoblast itself. The receptor is also essential for normal gonadotropin-released hormone physiology and for puberty. The hypothalamic KiSS1/GPR54 system is a pivotal factor in central regulation of the gonadotropic axis at puberty and in adulthood.
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: Very high expression in placenta, with the next highest level in testis and moderate levels in pancreas, liver, small intestine and brain at much lower levels. Expression levels increased in both early placentas and molar pregnancies and are reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation, but only expressed in the villous trophoblast.
INDUCTION: Down-regulated during the progression of melanoma in vivo. Diminishes MMP9 expression by effecting reduced NF-kappa-B binding to the promoter.
PTM: Processed by MMP2 and MMP9.
SIMILARITY: Belongs to the KISS1 family.
SEQUENCE CAUTION: Sequence=AAC79512.1; Type=Frameshift; Positions=138; Sequence=AAM78592.1; Type=Frameshift; Positions=138;
WEB RESOURCE: Name=Protein Spotlight; Note=Tintin's blight - Issue 58 of May 2005; URL="http://web.expasy.org/spotlight/back_issues/sptlt058.shtml";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: KISS1
Diseases sorted by gene-association score: hypogonadotropic hypogonadism 13 with or without anosmia* (1280), kiss1-related isolated gonadotropin-releasing hormone deficiency* (500), normosmic congenital hypogonadotropic hypogonadism* (132), hypogonadotropic hypogonadism (17), melanoma metastasis (15), gastric cardia carcinoma (15), hypogonadism (14), central precocious puberty (9), precocious puberty (9), idiopathic central precocious puberty (8), hypogonadotropism (8), kallmann syndrome (7), melanoma (5), gonadal disease (4), reproductive system disease (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3.46 RPKM in Testis
Total median expression: 12.86 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -54.30154-0.353 Picture PostScript Text
3' UTR -42.60143-0.298 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR020207 - Metastasis-suppressor_KiSS-1

Pfam Domains:
PF15152 - Kisspeptin

ModBase Predicted Comparative 3D Structure on Q15726
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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.

-  Orthologous Genes in Other Species
  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0031773 kisspeptin receptor binding

Biological Process:
GO:0007010 cytoskeleton organization
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007204 positive regulation of cytosolic calcium ion concentration
GO:0008285 negative regulation of cell proliferation
GO:0033686 positive regulation of luteinizing hormone secretion
GO:0043410 positive regulation of MAPK cascade
GO:0050806 positive regulation of synaptic transmission
GO:0051482 positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway
GO:0060112 generation of ovulation cycle rhythm
GO:0060124 positive regulation of growth hormone secretion

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0016324 apical plasma membrane
GO:0043005 neuron projection
GO:0043025 neuronal cell body


-  Descriptions from all associated GenBank mRNAs
  AF218017 - Homo sapiens clone PP5098 unknown mRNA.
U43527 - UNVERIFIED: Homo sapiens malignant melanoma metastasis-suppressor (KiSS-1) mRNA, complete cds.
BC022819 - Homo sapiens KiSS-1 metastasis-suppressor, mRNA (cDNA clone MGC:39258 IMAGE:5443510), complete cds.
AK291695 - Homo sapiens cDNA FLJ76664 complete cds.
JD076828 - Sequence 57852 from Patent EP1572962.
JD483452 - Sequence 464476 from Patent EP1572962.
AY117143 - Homo sapiens KiSS-1 metastasis-suppressor (KISS1) mRNA, complete cds.
DQ892799 - Synthetic construct clone IMAGE:100005429; FLH189831.01X; RZPDo839B0875D KiSS-1 metastasis-suppressor (KISS1) gene, encodes complete protein.
DQ896046 - Synthetic construct Homo sapiens clone IMAGE:100010506; FLH189827.01L; RZPDo839B0865D KiSS-1 metastasis-suppressor (KISS1) gene, encodes complete protein.
JD459773 - Sequence 440797 from Patent EP1572962.
JD520319 - Sequence 501343 from Patent EP1572962.
JD133149 - Sequence 114173 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q15726 (Reactome details) participates in the following event(s):

R-HSA-388981 The Kiss receptor GPR54 binds kisspeptin
R-HSA-749452 The Ligand:GPCR:Gq complex dissociates
R-HSA-749448 Liganded Gq-activating GPCRs bind inactive heterotrimeric Gq
R-HSA-379048 Liganded Gq/11-activating GPCRs act as GEFs for Gq/11
R-HSA-375276 Peptide ligand-binding receptors
R-HSA-416476 G alpha (q) signalling events
R-HSA-373076 Class A/1 (Rhodopsin-like receptors)
R-HSA-388396 GPCR downstream signalling
R-HSA-500792 GPCR ligand binding
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A8K6N0, ENST00000367194.1, ENST00000367194.2, ENST00000367194.3, ENST00000367194.4, KISS1_HUMAN, NM_002256, PP5098, Q15726, Q9HBP1, uc318fsi.1, uc318fsi.2
UCSC ID: ENST00000367194.5_8
RefSeq Accession: NM_002256.4
Protein: Q15726 (aka KISS1_HUMAN or KIS1_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene KISS1:
kms (Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.