Ectonucleotide Pyrophosphatase/Phosphodiesterase 1

Alternative Names

  • ENPP1
  • Phosphodiesterase I/Nucleotide Pyrophosphatase 1
  • PDNP1
  • Plasma Cell Membrane Glycoprotein PC-1
  • PC1
  • PCA1
  • Membrane Component, Chromosome 6, Surface Marker 1
  • M6S1
  • LY41, Mouse, Homolog of
  • Alkaline Phosphodiesterase I
  • Nucleotide Pyrophosphatase
  • NPPS
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OMIM Number

173335

NCBI Gene ID

5167

Uniprot ID

P22413

Length

87,136 bases

No. of Exons

25

No. of isoforms

1

Protein Name

Ectonucleotide pyrophosphatase/phosphodiesterase family member 1

Molecular Mass

104924 Da

Amino Acid Count

925

Genomic Location

chr6:131,808,019-131,895,154

Gene Map Locus
6q23.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_006208.3:c.517A>CLebanon; TunisiaNC_000006.12:g.131851228A>CBenign, Risk factorType 2 Diabetes MellitusNG_008206.1:g.48213A>C; NM_006208.3:c.517A>C; NP_006199.2:p.Lys173Gln104449813589
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