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
128817242003Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.149
201377732010Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.100
222092482012Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.89
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
201377722010Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene.82
160251152005Variants of ENPP1 are associated with childhood and adult obesity and increase the risk of glucose intolerance and type 2 diabetes.72
200167542008Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy.57
184986342008The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies.45
253448122014Hydrolysis of 2'3'-cGAMP by ENPP1 and design of nonhydrolyzable analogs.43
202003322010Family-based analysis of candidate genes for polycystic ovary syndrome.40

Citation

Dessen P

ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

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