Mus musculus Gene: Enpp1
Summary
InnateDB Gene IDBG-138688.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Enpp1
Gene Name ectonucleotide pyrophosphatase/phosphodiesterase 1
Synonyms 4833416E15Rik; AI428932; C76301; CD203c; E-NPP1; Ly-41; M6S1; NPP1; Npps; PC-1; Pca; Pca-1; Pdnp1; ttw; twy;
Species Mus musculus
Ensembl Gene ENSMUSG00000037370
Encoded Proteins
ectonucleotide pyrophosphatase/phosphodiesterase 1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ectonucleotide pyrophosphatase/phosphodiesterase 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000197594:
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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:24637914-24712159
Strand Reverse strand
Band A4
Transcripts
ENSMUST00000039882 ENSMUSP00000046090
ENSMUST00000105520 ENSMUSP00000101159
ENSMUST00000135846 ENSMUSP00000114273
ENSMUST00000150570
ENSMUST00000142974
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 0
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003676 nucleic acid binding
GO:0003824 catalytic activity
GO:0004528 phosphodiesterase I activity
GO:0004551 nucleotide diphosphatase activity
GO:0005044 scavenger receptor activity
GO:0005158 insulin receptor binding
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008270 zinc ion binding
GO:0016787 hydrolase activity
GO:0030247 polysaccharide binding
GO:0035529 NADH pyrophosphatase activity
GO:0042803 protein homodimerization activity
GO:0046872 metal ion binding
GO:0047429 nucleoside-triphosphate diphosphatase activity
Biological Process
GO:0006091 generation of precursor metabolites and energy
GO:0006200 ATP catabolic process
GO:0006796 phosphate-containing compound metabolic process
GO:0006898 receptor-mediated endocytosis
GO:0006955 immune response
GO:0008152 metabolic process
GO:0009143 nucleoside triphosphate catabolic process
GO:0030279 negative regulation of ossification
GO:0030308 negative regulation of cell growth
GO:0030505 inorganic diphosphate transport
GO:0030643 cellular phosphate ion homeostasis
GO:0030730 sequestering of triglyceride
GO:0031214 biomineral tissue development
GO:0031953 negative regulation of protein autophosphorylation
GO:0032869 cellular response to insulin stimulus
GO:0045599 negative regulation of fat cell differentiation
GO:0045719 negative regulation of glycogen biosynthetic process
GO:0046325 negative regulation of glucose import
GO:0046627 negative regulation of insulin receptor signaling pathway
GO:0046849 bone remodeling
GO:0050427 3'-phosphoadenosine 5'-phosphosulfate metabolic process
GO:0090305 nucleic acid phosphodiester bond hydrolysis
Cellular Component
GO:0005615 extracellular space
GO:0005765 lysosomal membrane
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0009986 cell surface
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Disease pathway
Vitamin B2 (riboflavin) metabolism pathway
Metabolism pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective GIF causes intrinsic factor deficiency pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective CD320 causes methylmalonic aciduria pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Metabolism of vitamins and cofactors pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defects in vitamin and cofactor metabolism pathway
Defects in cobalamin (B12) metabolism pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Defective HLCS causes multiple carboxylase deficiency pathway
KEGG
Purine metabolism pathway
Starch and sucrose metabolism pathway
Riboflavin metabolism pathway
Nicotinate and nicotinamide metabolism pathway
Pantothenate and CoA biosynthesis pathway
INOH
PID BIOCARTA
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Defective CD320 causes methylmalonic aciduria pathway
Defects in cobalamin (B12) metabolism pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in vitamin and cofactor metabolism pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Vitamin B2 (riboflavin) metabolism pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Disease pathway
Metabolism of vitamins and cofactors pathway
KEGG
Purine metabolism pathway
Starch and sucrose metabolism pathway
Riboflavin metabolism pathway
Nicotinate and nicotinamide metabolism pathway
Pantothenate and CoA biosynthesis pathway
INOH
Nicotinate Nicotinamide metabolism pathway
PID BIOCARTA
Regulators of bone mineralization [Biocarta view]
PID NCI
Cross-References
SwissProt P06802
TrEMBL
UniProt Splice Variant
Entrez Gene 18605
UniGene Mm.27254 Mm.483848 Mm.490564
RefSeq NM_008813 XM_006512600 XM_006512599 XM_006512598 XM_006512597
OMIM
CCDS CCDS35870
HPRD
IMGT
MGI ID MGI:97370
MGI Symbol Enpp1
EMBL AF339910 AK088857 J02700 L04516 M12552
GenPept AAA39892 AAA39893 AAK84174 BAC40616
RNA Seq Atlas 18605