ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1)

2007-02-01  

Identity

HGNC
LOCATION
6q23.2
LOCUSID
ALIAS
ARHR2,COLED,M6S1,NPP1,NPPS,PC-1,PCA1,PDNP1
FUSION GENES

Other Information

Locus ID:

NCBI: 5167
MIM: 173335
HGNC: 3356
Ensembl: ENSG00000197594

Variants:

dbSNP: 5167
ClinVar: 5167
TCGA: ENSG00000197594
COSMIC: ENPP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197594ENST00000513998E9PE72
ENSG00000197594ENST00000647893P22413
ENSG00000197594ENST00000650147A0A3B3ISN7
ENSG00000197594ENST00000650437A0A3B3IU14
ENSG00000197594ENST00000650507A0A3B3IST7

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Pyrimidine metabolismKEGGko00240
Starch and sucrose metabolismKEGGko00500
Riboflavin metabolismKEGGko00740
Nicotinate and nicotinamide metabolismKEGGko00760
Pantothenate and CoA biosynthesisKEGGko00770
Purine metabolismKEGGhsa00230
Pyrimidine metabolismKEGGhsa00240
Starch and sucrose metabolismKEGGhsa00500
Riboflavin metabolismKEGGhsa00740
Nicotinate and nicotinamide metabolismKEGGhsa00760
Pantothenate and CoA biosynthesisKEGGhsa00770
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Vitamin B2 (riboflavin) metabolismREACTOMER-HSA-196843
Vitamin B5 (pantothenate) metabolismREACTOMER-HSA-199220

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
378711312024ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency.1
381428382024Targeting ENPP1 for cancer immunotherapy: Killing two birds with one stone.1
382655112024ENPP1 inhibits the transcription activity of the hepatitis B virus pregenomic promoter by upregulating the acetylation of LMNB1.0
385822292024TET3 boosts hepatocyte autophagy and impairs non-alcoholic fatty liver disease by increasing ENPP1 promoter hypomethylation.0
388060892024Quantitative correlation of ENPP1 pathogenic variants with disease phenotype.0
378711312024ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency.1
381428382024Targeting ENPP1 for cancer immunotherapy: Killing two birds with one stone.1
382655112024ENPP1 inhibits the transcription activity of the hepatitis B virus pregenomic promoter by upregulating the acetylation of LMNB1.0
385822292024TET3 boosts hepatocyte autophagy and impairs non-alcoholic fatty liver disease by increasing ENPP1 promoter hypomethylation.0
388060892024Quantitative correlation of ENPP1 pathogenic variants with disease phenotype.0
370035632023Effects of food, fasting, and exercise on plasma pyrophosphate levels and ENPP1 activity in healthy adults.0
372312322023Role of ENPP1 Gene Variants in the Susceptibility to Diabetic Nephropathy in Patients with type 2 Diabetes Mellitus.1
381178522023ENPP1 is an innate immune checkpoint of the anticancer cGAMP-STING pathway in breast cancer.2
370035632023Effects of food, fasting, and exercise on plasma pyrophosphate levels and ENPP1 activity in healthy adults.0
372312322023Role of ENPP1 Gene Variants in the Susceptibility to Diabetic Nephropathy in Patients with type 2 Diabetes Mellitus.1

Citation

Dessen P

ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45867/enpp1