About   Help   FAQ
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
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:24637914-24712159 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 12.26 cM
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    719 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97370
protein coding gene Chr10:24637914-24712159 (-)
129S1/SvImJ MGP_129S1SvImJ_G0017093
protein coding gene Chr10:22626095-22696002 (-)
A/J MGP_AJ_G0017070
protein coding gene Chr10:21962162-22035161 (-)
AKR/J MGP_AKRJ_G0017030
protein coding gene Chr10:22319739-22399489 (-)
BALB/cJ MGP_BALBcJ_G0017033
protein coding gene Chr10:22055331-22125920 (-)
C3H/HeJ MGP_C3HHeJ_G0016853
protein coding gene Chr10:22529727-22600960 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017491
protein coding gene Chr10:23320086-23398271 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015189
protein coding gene Chr10:20652861-20723395 (-)
CAST/EiJ MGP_CASTEiJ_G0016432
protein coding gene Chr10:22468999-22541470 (-)
CBA/J MGP_CBAJ_G0016827
protein coding gene Chr10:24366902-24440545 (-)
DBA/2J MGP_DBA2J_G0016932
protein coding gene Chr10:21688739-21762230 (-)
FVB/NJ MGP_FVBNJ_G0016927
protein coding gene Chr10:21397966-21466914 (-)
LP/J MGP_LPJ_G0017009
protein coding gene Chr10:22614509-22684480 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0016957
protein coding gene Chr10:24481763-24558294 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0017527
protein coding gene Chr10:22183599-22255543 (-)
PWK/PhJ MGP_PWKPhJ_G0016214
protein coding gene Chr10:21469019-21538956 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015998
protein coding gene Chr10:22000180-22072760 (-)
WSB/EiJ MGP_WSBEiJ_G0016495
protein coding gene Chr10:22302088-22371559 (-)



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
    UniProt: P22413

  • Chr Location
    6q23.2; chr6:131808016-131895155 (+)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 2 models
      
IDs
View 1 model
IDs
View 1 model
IDs
View 1 model
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    70 phenotypes from 5 alleles in 6 genetic backgrounds
    15 phenotypes from multigenic genotypes
    1 images
    54 phenotype references
Phenotype Overview

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

Click cells to view annotations.
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
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18605 NCBI Gene Model | MGI Sequence Detail 74246 C57BL/6J ±  kb
    transcript NM_001308327 RefSeq | MGI Sequence Detail 6794 C57BL/6  
    polypeptide P06802 UniProt | EBI | MGI Sequence Detail 906 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 36
      cDNA 29
      Primer pair 1
      Other 6

      Microarray probesets 7
    Other
    Accession IDs
    less
    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 121
      Developmental Gene Expression 8
      Diseases 7
      Gene Ontology 16
      Phenotypes 54
    • Earliest
      J:5161 Takahashi T, et al., Surface alloantigens of plasma cells. J Exp Med. 1970 Jun 1;131(6):1325-41
    • Latest
      J:266558 Jin Y, et al., Enpp1 inhibits ectopic joint calcification and maintains articular chondrocytes by repressing hedgehog signaling. Development. 2018 Sep 20;145(18)

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory