GENE NAME | ENPP1 |
CHROMOSOME | 6 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000197594 |
UNIPROT ACCESSION NUMBER | None |
GO MOLECULAR FUNCTION | ['zinc ion binding', 'cyclic-GMP-AMP hydrolase activity', 'exonuclease activity', 'nucleotide diphosphatase activity', 'scavenger receptor activity', 'nucleic acid binding', 'calcium ion binding', 'ATP binding', 'NADH pyrophosphatase activity', 'phosphodiesterase I activity', 'dTTP diphosphatase activity', 'protein binding', "3'-phosphoadenosine 5'-phosphosulfate binding", 'protein homodimerization activity', 'insulin receptor binding', 'polysaccharide binding', 'nucleoside-triphosphate diphosphatase activity'] |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | hsa00230; hsa00240; hsa00500; hsa00740; hsa00760; hsa00770; hsa01100; R-HSA-1430728; R-HSA-196843; R-HSA-196849; R-HSA-196854; R-HSA-199220 |
1 combination linked to ENPP1 | OLI1248 |
1 variant linked to ENPP1 | ENPP1:c.971G>A, p.Gly324Glu |
1 disease linked to ENPP1 | Epidermolysis bullosa simplex |