Mus musculus Gene: Enpp1 | |||||||||||||||||||||||||||||||||||||||||||||
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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
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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] |
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Gene Information | |||||||||||||||||||||||||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||||||||||||||||||||||||
Genomic Location | Chromosome 10:24637914-24712159 | ||||||||||||||||||||||||||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||||||||||||||||||||||||||
Band | A4 | ||||||||||||||||||||||||||||||||||||||||||||
Transcripts |
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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.
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Gene Ontology | |||||||||||||||||||||||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||||||||||||||||||||||||
Species
Homo sapiens
Bos taurus
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Gene ID
Gene Order
Not yet available
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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
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KEGG |
Nicotinate and nicotinamide metabolism pathway
Pantothenate and CoA biosynthesis pathway
Starch and sucrose metabolism pathway
Purine metabolism pathway
Riboflavin metabolism pathway
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INOH | |||||||||||||||||||||||||||||||||||||||||||||
PID NCI | |||||||||||||||||||||||||||||||||||||||||||||
Pathway Predictions based on Human Orthology Data | |||||||||||||||||||||||||||||||||||||||||||||
NETPATH | |||||||||||||||||||||||||||||||||||||||||||||
REACTOME |
Vitamin B2 (riboflavin) metabolism pathway
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
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
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KEGG |
Riboflavin metabolism pathway
Pantothenate and CoA biosynthesis pathway
Nicotinate and nicotinamide metabolism pathway
Purine metabolism pathway
Starch and sucrose metabolism pathway
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INOH |
Nicotinate Nicotinamide metabolism pathway
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PID NCI | |||||||||||||||||||||||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||||||||||||||||||||||||
TrEMBL | E9QQ26 | ||||||||||||||||||||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||||||||||||||||||||
Entrez Gene | 18605 | ||||||||||||||||||||||||||||||||||||||||||||
UniGene | Mm.27254 Mm.483848 Mm.490564 | ||||||||||||||||||||||||||||||||||||||||||||
RefSeq | XM_006512599 XM_006512600 NM_008813 XM_006512597 XM_006512598 | ||||||||||||||||||||||||||||||||||||||||||||
OMIM | |||||||||||||||||||||||||||||||||||||||||||||
CCDS | CCDS35870 | ||||||||||||||||||||||||||||||||||||||||||||
HPRD | |||||||||||||||||||||||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||||||||||||||||||||||
MGI ID | MGI:97370 | ||||||||||||||||||||||||||||||||||||||||||||
MGI Symbol | Enpp1 | ||||||||||||||||||||||||||||||||||||||||||||
EMBL | AC099695 AC158616 | ||||||||||||||||||||||||||||||||||||||||||||
GenPept | |||||||||||||||||||||||||||||||||||||||||||||
RNA Seq Atlas | 18605 | ||||||||||||||||||||||||||||||||||||||||||||