ENPP1

Gene Information
 
Gene Symbol
ENPP1
 
Aliases
ARHR2, COLED, M6S1, NPP1, NPPS, PC-1, PCA1, PDNP1
 
Entrez Gene ID
 
Gene Name
Ectonucleotide pyrophosphatase/phosphodiesterase 1
 
Chromosomal Location
6q22-q23
 
HGNC ID
 
Summary
 
GeneCards ID
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0006091 Biological process Generation of precursor metabolites and energy IDA 12746903
GO:0006796 Biological process Phosphate-containing compound metabolic process IDA 10513816
GO:0009143 Biological process Nucleoside triphosphate catabolic process IDA 10513816
GO:0030308 Biological process Negative regulation of cell growth IDA 17849011
GO:0030500 Biological process Regulation of bone mineralization IC 10513816
Protein Information
 
Protein Name
Nucleotide pyrophosphatase
 
Function
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF01033 Somatomedin_B Somatomedin B domain
PF01223 Endonuclease_NS DNA/RNA non-specific endonuclease
PF01663 Phosphodiest Type I phosphodiesterase / nucleotide pyrophosphatase
 
KEGG
 
OMIM
 
Phenotype MIM ID

Associated Diseases

Diseases References
Polycystic ovary syndrome (PCOS) 15374726
   
References
 
Primary:

The 121Q allele of the plasma cell membrane glycoprotein 1 gene predisposes to polycystic ovary syndrome.

Heinonen Seppo, Korhonen Seija, Helisalmi Seppo, Koivunen Riitta, Tapanainen Juha S, Laakso Markku
Department of Obstetrics and Gynecology, Kuopio University Hospital, 70211 Kuopio, Finland. seppo.heinonen@kuh.fi
Fertil Steril. 2004 Sep;82(3):743-5.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
 
K121Q polymorphism of gene 
Diagnosis based on anovulation and polycystic ovaries in ultrasonography 
Direct 
 
The K121Q polymorphism of the plasma cell membrane glycoprotein 1 gene was significantly associated with polycystic ovary syndrome (PCOS) susceptibility, the pooled genotype distribution (K121K vs. 121Q allele) having an odds ratio of 1.90 (95% confidence interval 1.11-3.26). This suggests that impaired insulin signaling is of etiologic importance in PCOS. 

 

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