Gene Gene information from NCBI Gene database.
Entrez ID 3814
Gene name KiSS-1 metastasis suppressor
Gene symbol KISS1
Synonyms (NCBI Gene)
HH13KiSS-1
Chromosome 1
Chromosome location 1q32.1
Summary This gene is a metastasis suppressor gene that suppresses metastases of melanomas and breast carcinomas without affecting tumorigenicity. The encoded protein may inhibit chemotaxis and invasion and thereby attenuate metastasis in malignant melanomas. Stud
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs587777835 G>C Pathogenic Coding sequence variant, missense variant
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Transcription factor Regulation Reference
AR Activation 18331266
MED23 Activation 12543799
SP1 Activation 16260418
SP1 Unknown 16964286
TFAP2A Activation 16260418
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 11387329, 32296183
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
GO:0005615 Component Extracellular space IBA
GO:0007010 Process Cytoskeleton organization TAS 9192814
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603286 6341 ENSG00000170498
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15726
Protein name Metastasis-suppressor KiSS-1 (Kisspeptin-1) [Cleaved into: Metastin (Kisspeptin-54); Kisspeptin-14; Kisspeptin-13; Kisspeptin-10]
Protein 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 fun
PDB 8XGS , 8ZJD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15152 Kisspeptin 46 122 Kisspeptin Family
Tissue specificity 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 a
Sequence
MNSLVSWQLLLFLCATHFGEPLEKVASVGNSRPTGQQLESLGLLAPGEQSLPCTERKPAA
TARLSRRGTSLSPPPESSGSPQQPGLSAPHSRQIPAPQGAVLVQREKDLPNYNWNSFGLR
FG
KREAAPGNHGRSAGRG
Sequence length 138
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Neuroactive ligand-receptor interaction
GnRH secretion
  Peptide ligand-binding receptors
G alpha (q) signalling events
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hypogonadotropic hypogonadism 13 with or without anosmia Pathogenic rs587777835 RCV000030951
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Disorder of sexual differentiation Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPOGONADOTROPIC HYPOGONADISM Disgenet
Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPOPITUITARISM Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IDIOPATHIC GROWTH HORMONE DEFICIENCY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 17695545, 19895172, 25688501
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 17695545
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 30021598
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 24033850, 26010933, 30003725
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 20844932
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 17519946
★☆☆☆☆
Found in Text Mining only
Asphyxia Neonatorum Postnatal asphyxia BEFREE 23145030
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 17519946
★☆☆☆☆
Found in Text Mining only
Atypical Endometrial Hyperplasia Endometrial Hyperplasia BEFREE 24908069
★☆☆☆☆
Found in Text Mining only