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Enpp1 Gene Detail
Summary
  • Symbol
    Enpp1
  • Name
    ectonucleotide pyrophosphatase/phosphodiesterase 1
  • Synonyms
    4833416E15Rik, CD203c, E-NPP1, Ly-41, NPP1, Npps, PC-1, Pca, Pca-1, Pdnp1, twy
  • Feature Type
    protein coding gene
  • IDs
    MGI:97370
    NCBI Gene: 18605
Location & Maps
more
  • Sequence Map
    Chr10:24637914-24712159 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      74246 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 12.26 cM
  • Detailed Genetic Map ± 1 cM
  • Mapping Data
    9 experiments
Homology
more
  • Human Ortholog
    ENPP1, ectonucleotide pyrophosphatase/phosphodiesterase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ENPP1, ectonucleotide pyrophosphatase/phosphodiesterase 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ARHR2, COLED, M6S1, NPP1, NPPS, PC-1, PCA1, PDNP1
  • Links
    NCBI Gene ID: 5167
    neXtProt AC: NX_P22413

  • Chr Location
    6q22-q23; chr6:131808016-131895155 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    4 with Enpp1 mouse models; 5 with human ENPP1 associations

Human Disease Mouse Models
       Arterial Calcification, Generalized, of Infancy, 1; GACI1   OMIM: 208000 View 2 models
       Ossification of the Posterior Longitudinal Ligament of Spine; OPLL   OMIM: 602475 View 1 model
Osteoarthritis Susceptibility 1; OS1   OMIM: 165720 View 1 model
Spondyloarthropathy, Susceptibility to, 1; SPDA1   OMIM: 106300 View 1 model
       Cole Disease; COLED   OMIM: 615522
Diabetes Mellitus, Noninsulin-Dependent; NIDDM   OMIM: 125853
Hypophosphatemic Rickets, Autosomal Recessive, 2; ARHR2   OMIM: 613312
Obesity   OMIM: 601665
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    64 phenotypes from 5 alleles in 6 genetic backgrounds
    1 phenotype from multigenic genotypes
    1 images
    44 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    7
  • Chemically induced (ENU)
    2
  • Chemically induced (other)
    1
  • Spontaneous
    2
  • Targeted
    1
  • Transgenic
    1
  • Genomic Mutations
    1 involving Enpp1
  • Incidental Mutations
Mice homozygous for a null allele develop hyperostosis leading to ossific intervertebral fusion, peripheral joint ankylosis and tendon calcification, and display spontaneous arterial and articular cartilage calcification, and altered adipocyte maturation.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    719 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000007087 ectonucleotide pyrophosphatase/phosphodiesterase family member 1
  • PDB
  • EC
  • InterPro Domains
    IPR017849 Alkaline phosphatase-like, alpha/beta/alpha
    IPR017850 Alkaline-phosphatase-like, core domain
    IPR001604 DNA/RNA non-specific endonuclease
    IPR024873 Ectonucleotide pyrophosphatase/phosphodiesterase family
    IPR029890 Ectonucleotide pyrophosphatase/phosphodiesterase family member 1
    IPR020821 Extracellular Endonuclease, subunit A
    IPR020436 Somatomedin B, chordata
    IPR001212 Somatomedin B domain
    IPR002591 Type I phosphodiesterase/nucleotide pyrophosphatase/phosphate transferase
Molecular
Reagents
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  • All nucleic 34
    cDNA 27
    Primer pair 1
    Other 6

    Microarray probesets 7
Other
Accession IDs
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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
References
more
  • Summaries
    All 94
    Developmental Gene Expression 8
    Diseases 7
    Gene Ontology 12
    Phenotypes 44
  • Earliest
    J:5161 Takahashi T, et al., Surface alloantigens of plasma cells. J Exp Med. 1970 Jun 1;131(6):1325-41
  • Latest
    J:227996 Albright RA, et al., ENPP1-Fc prevents mortality and vascular calcifications in rodent model of generalized arterial calcification of infancy. Nat Commun. 2015;6:10006

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
05/24/2016
MGI 6.04
The Jackson Laboratory