ENPP1

GENE INFORMATION

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Gene name

ENPP1 (HGNC Symbol)

Synonyms

M6S1, NPPS, PC-1, PCA1, PDNP1

Description

ectonucleotide pyrophosphatase/phosphodiesterase 1 (HGNC Symbol)

Entrez gene summary

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. [provided by RefSeq, Jul 2008]

Chromosome

6 (Chromosome progress)

Cytoband

q23.2

Chromosome location (bp)

132129156 - 132216295

Ensembl

ENSG00000197594 (version 73.37)

Entrez gene

5167

UniProt

P22413 (UniProt - Evidence at protein level)

neXtProt

NX_P22413

Antibodypedia

ENPP1 antibodies
 

PROTEIN VIEW

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ENPP1-001
 
ENPP1-004
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ENPP1-001 ENSP00000354238
ENST00000360971
P22413
Show all »
Show » Show » 925 104.9 No 1
ENPP1-004 ENSP00000422424
ENST00000513998
E9PE72
Show all »
Show » Show » 378 42.1 No 1