Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3814
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol KISS1   Gene   UCSC   Ensembl
Aliases HH13, KiSS-1
Gene name KiSS-1 metastasis suppressor
Alternate names metastasis-suppressor KiSS-1, kisspeptin-1, malignant melanoma metastasis-suppressor, metastin, prepro-kisspeptin,
Gene location 1q32.1 (204196490: 204190340)     Exons: 3     NC_000001.11
Gene summary(Entrez) 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. Studies suggest a putative role in the regulation of events downstream of cell-matrix adhesion, perhaps involving cytoskeletal reorganization. A protein product of this gene, kisspeptin, stimulates gonadotropin-releasing hormone (GnRH)-induced gonadotropin secretion and regulates the pubertal activation of GnRH nuerons. A polymorphism in the terminal exon of this mRNA results in two protein isoforms. An adenosine present at the polymorphic site represents the third position in a stop codon. When the adenosine is absent, a downstream stop codon is utilized and the encoded protein extends for an additional seven amino acid residues. [provided by RefSeq, Mar 2012]
OMIM 603286

Protein Summary

Protein general information Q15726  

Name: Metastasis-suppressor KiSS-1 (Kisspeptin-1) [Cleaved into: Metastin (Kisspeptin-54); Kisspeptin-14; Kisspeptin-13; Kisspeptin-10]

Length: 138  Mass: 14,705

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 MNSLVSWQLLLFLCATHFGEPLEKVASVGNSRPTGQQLESLGLLAPGEQSLPCTERKPAATARLSRRGTSLSPPP
ESSGSPQQPGLSAPHSRQIPAPQGAVLVQREKDLPNYNWNSFGLRFGKREAAPGNHGRSAGRG
Structural information
Interpro:  IPR020207

Pfam:  
PF15152
STRING:   ENSP00000356162;
Other Databases GeneCards:  KISS1;  Malacards:  KISS1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005615 extracellular space
IEA cellular_component
GO:0005829 cytosol
IEA cellular_component
GO:0007010 cytoskeleton organization
TAS biological_process
GO:0008285 negative regulation of ce
ll proliferation
IEA biological_process
GO:0016324 apical plasma membrane
IEA cellular_component
GO:0031773 kisspeptin receptor bindi
ng
IEA molecular_function
GO:0033686 positive regulation of lu
teinizing hormone secreti
on
IEA biological_process
GO:0043005 neuron projection
IEA cellular_component
GO:0043025 neuronal cell body
IEA cellular_component
GO:0043410 positive regulation of MA
PK cascade
IEA biological_process
GO:0050806 positive regulation of sy
naptic transmission
IEA biological_process
GO:0051482 positive regulation of cy
tosolic calcium ion conce
ntration involved in phos
pholipase C-activating G-
protein coupled signaling
pathway
IEA biological_process
GO:0060112 generation of ovulation c
ycle rhythm
IEA biological_process
GO:0060124 positive regulation of gr
owth hormone secretion
IEA biological_process
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005615 extracellular space
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005829 cytosol
IEA cellular_component
GO:0007010 cytoskeleton organization
TAS biological_process
GO:0007204 positive regulation of cy
tosolic calcium ion conce
ntration
IEA biological_process
GO:0008285 negative regulation of ce
ll proliferation
IEA biological_process
GO:0016324 apical plasma membrane
IEA cellular_component
GO:0031773 kisspeptin receptor bindi
ng
IEA molecular_function
GO:0033686 positive regulation of lu
teinizing hormone secreti
on
IEA biological_process
GO:0043005 neuron projection
IEA cellular_component
GO:0043025 neuronal cell body
IEA cellular_component
GO:0043410 positive regulation of MA
PK cascade
IEA biological_process
GO:0050806 positive regulation of sy
naptic transmission
IEA biological_process
GO:0051482 positive regulation of cy
tosolic calcium ion conce
ntration involved in phos
pholipase C-activating G-
protein coupled signaling
pathway
IEA biological_process
GO:0060112 generation of ovulation c
ycle rhythm
IEA biological_process
GO:0060124 positive regulation of gr
owth hormone secretion
IEA biological_process
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0007010 cytoskeleton organization
TAS biological_process

Diseases

Associated diseases References
Endometriosis INFBASE26918694
?Hypogonadotropic hypogonadism 13 with or without anosmia OMIM603286
Hypogonadotropic hypogonadism KEGGH00255

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
26918694 Endometrio
sis

67 (38 patients
with endometri
osis, 29 withou
t endometriosis
)

Show abstract