ENPP1 Back

ectonucleotide pyrophosphatase/phosphodiesterase 1

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NCBI Description of ENPP1

This gene is a member of the ecto-nucleotide pyrophosphatase/phosphodiesterase (ENPP) family. The encoded protein is a type II transmembrane glycoprotein comprising two identical disulfide-bonded subunits. This protein has broad specificity and cleaves a variety of substrates, including phosphodiester bonds of nucleotides and nucleotide sugars and pyrophosphate bonds of nucleotides and nucleotide sugars. This protein may function to hydrolyze nucleoside 5' triphosphates to their corresponding monophosphates and may also hydrolyze diadenosine polyphosphates. Mutations in this gene have been associated with 'idiopathic' infantile arterial calcification, ossification of the posterior longitudinal ligament of the spine (OPLL), and insulin resistance. Sequence Note: The translation start codon selected for this RefSeq is conserved in several species. A possible downstream start codon would reduce the protein length by 52 aa, and this start codon is referred to in PMID:2211644. No experimental evidence exists regarding which start codon is used. This RefSeq record was created from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.

Community Annotation of ENPP1 Add / Edit ENPP1: Annotations

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Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


ENPP1 is highly significantly mutated in
ENPP1 is significantly mutated in
ENPP1 is near significance in

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for ENPP1