Species

Homo sapiens

Symbol

ENPP1

Name

ectonucleotide pyrophosphatase/phosphodiesterase 1

Synonyms

alkaline phosphodiesterase 1
alkaline phosphodiesterase I

Biotype

protein coding gene

Automated Description

Enables several functions, including ATP binding activity; hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides; and phosphoric ester hydrolase activity. Involved in several processes, including inorganic diphosphate transport; negative regulation of macromolecule metabolic process; and nucleoside phosphate metabolic process. Located in cell surface and extracellular space. Is active in plasma membrane. Implicated in several diseases, including arterial calcification of infancy; end stage renal disease; obesity; ossification of the posterior longitudinal ligament of spine; and type 2 diabetes mellitus. Biomarker of glioblastoma.

RGD 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. [provided by RefSeq, Jul 2008]

Cross References

Additional Information

Literature

Orthology

Gene tree: PANTHER:PTHR10151

Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse

Paralogy

Function - GO Annotations

Show functions with at least one experimental evidence

Pathways

No data available

Phenotypes

Primary Sources

None

Other Sources

BioGRID CRISPR Screen Cell Line Phenotypes

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Disease Associations

Include negative annotationsCases where the expected disease association was NOT found

Cell color indicative of annotation volume

No data available

Alleles and Variants

Allele/Variant Symbol	Allele Synonyms	Category	Variant	Variant type	Molecular consequence	Has Disease Annotations	Has Phenotype Annotations
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Transgenic Alleles

Species (carrying the transgene)	Allele symbol	Transgenic construct	Expressed components	Knock-down targets	Regulatory regions	Has Disease Annotations	Has Phenotype Annotations
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Models

Model name	Experimental condition	Associated Human Diseases	Associated Phenotypes	Modifier	Source
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Sequence Feature Viewer

Genome location

Chr6:131808016...131895155 + (87.14 kb)

Assembly version

GRCh38

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Data currently unavailable; sequence viewer under construction

Sequence Details

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Expression

Primary Sources

None

Other Sources

Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

ENPP1 molecule type	Interactor gene	Interactor species	Interactor molecule type	Detection methods	Source	Reference
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Genetic Interactions

ENPP1 role	ENPP1 genetic perturbation	Interactor gene	Interactor species	Interactor role	Interactor genetic perturbation	Interaction type	Phenotype or trait	Source	Reference
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