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Enpp1
Gene Detail
 Symbol
Name
ID
Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
MGI:97370
Synonyms 4833416E15Rik, CD203c, E-NPP1, Ly-41, NPP1, Npps, PC-1, Pca, Pca-1, Pdnp1, twy
Feature Type protein coding gene
Genetic Map
Chromosome 10
12.26 cM
Detailed Genetic Map ± 1 cM


Mapping data(9)
Sequence Map
Chr10:24637914-24712159 bp, - strand
From VEGA annotation of GRCm38

  74246 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:38151  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: ectonucleotide pyrophosphatase/phosphodiesterase
Gene Tree: Enpp1

Human
homologs
Human Homolog ENPP1, ectonucleotide pyrophosphatase/phosphodiesterase 1
NCBI Gene ID 5167
neXtProt AC  NX_P22413
Human Synonyms  ARHR2, COLED, M6S1, NPP1, NPPS, PC-1, PCA1, PDNP1
Human Chr (Location)  6q22-q23; chr6:131808016-131895155 (+)  GRCh38
Disease Associations  (5) Diseases Associated with Human ENPP1
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Chemically induced (ENU)(2) Spontaneous(1) Targeted(1)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a spontaneous allele or knock-out allele exhibit calcification of articular and intervertebral joints, hypercalcification of osteoblasts, and calcinosis.
 
Human Diseases Modeled Using Mouse Enpp1 (4)    Alleles Annotated to Human Diseases(2)   
Interactions
Enpp1 interacts with 373 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (51 annotations)
Process 3'-phosphoadenosine 5'-phosphosulfate metabolic process, ATP catabolic process, ...
Component cell surface, extracellular region, ...
Function ATP binding, calcium ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (6 records)
Data Summary: Results (147)    Tissues (127)    Images (24)
Theiler Stages: 19, 22, 23, 28
Assay TypeResults
RNA in situ 147
cDNA source data(23)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(34) cDNA(27) Primer pair(1) Other(6)
Microarray probesets(7)
Other database
links
VEGA Gene ModelOTTMUSG00000019714 (Evidence)
Ensembl Gene ModelENSMUSG00000037370 (Evidence)
Entrez Gene18605 (Evidence)
DFCITC1580207, TC1641196, TC1703085
DoTSDT.101168142, DT.101305524, DT.101367913, DT.101720986, DT.40134156
NIA Mouse Gene IndexU031617
EC3.1.4.1, 3.6.1.9
PDB4GTW, 4GTX, 4GTY, 4GTZ, 4B56
Consensus CDS ProjectCCDS35870.1
International Mouse Knockout Project StatusEnpp1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019714 VEGA Gene Model | MGI Sequence Detail 74246 C57BL/6J ±  kb
transcript OTTMUST00000047202 VEGA | MGI Sequence Detail 2721 Not Applicable 
polypeptide OTTMUSP00000021308 VEGA | MGI Sequence Detail 906 Not Applicable 

For the selected sequences
All sequences(58) RefSeq(10) UniProt(4)
Polymorphisms All PCR and RFLP(2) : PCR(1) RFLP(1) SNPs within 2kb(726 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR017849 Alkaline phosphatase-like, alpha/beta/alpha
InterPro IPR017850 Alkaline-phosphatase-like, core domain
InterPro IPR001604 DNA/RNA non-specific endonuclease
InterPro IPR024873 Ectonucleotide pyrophosphatase/phosphodiesterase family
InterPro IPR020821 Extracellular Endonuclease, subunit A
InterPro IPR020436 Somatomedin B, chordata
InterPro IPR001212 Somatomedin B domain
InterPro IPR002591 Type I phosphodiesterase/nucleotide pyrophosphatase/phosphate transferase
Protein Ontology PR:000007087 ectonucleotide pyrophosphatase/phosphodiesterase family member 1
References (Earliest) J:5161 Takahashi T, et al., Surface alloantigens of plasma cells. J Exp Med. 1970 Jun 1;131(6):1325-41
(Latest) J:211672 Li Q, et al., Genetic modulation of nephrocalcinosis in mouse models of ectopic mineralization: the Abcc6(tm1Jfk) and Enpp1(asj) mutant mice. Lab Invest. 2014 Jun;94(6):623-32
All references(92)
Disease annotation references (5)
Other
accession IDs
MGD-MRK-11983, MGD-MRK-12924, MGD-MRK-13168, MGD-MRK-13169, MGD-MRK-15297, MGD-MRK-15307, MGI:1921012, MGI:2143598, MGI:2143909, MGI:98866

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/12/2014
MGI 5.19
The Jackson Laboratory