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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
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:24513812-24588057 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 12.26 cM
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2729 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97370
 protein coding gene Chr10:24513812-24588057 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ENPP1, ectonucleotide pyrophosphatase/phosphodiesterase 1
  • 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
Human Diseases
more
  • Diseases
    6 with Enpp1 mouse models; 6 with human ENPP1 associations

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

  • Mutations/Alleles
    4 with disease annotations
  • References
    8 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    123 phenotypes from 7 alleles in 8 genetic backgrounds
    4 phenotypes from multigenic genotypes
    1 images
    80 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
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
neoplasm
vision/eye

Click cells to view annotations.
Homozygous KO causes hyperostosis (leading to ossific intervertebral fusion, peripheral joint ankylosis and tendon calcification) and spontaneous arterial and articular cartilage calcification, and altered adipocyte maturation. Homozygosity for a spontaneous point mutation leads to calcification off all joints, and decreased fat mass and food intake, leading to premature death.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    281
  • GO References
    64
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    881
  • Tissues
    134
  • cDNA Data
    25
  • Literature Summary
    11
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 37
      cDNA 29
      Primer pair 2
      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 153
      Developmental Gene Expression 11
      Diseases 8
      Gene Ontology 64
      Phenotypes 80
    • Earliest
      J:5161 Takahashi T, et al., Surface alloantigens of plasma cells. J Exp Med. 1970 Jun 1;131(6):1325-41
    • Latest
      J:352677 Wang S, et al., ENPP1 is an innate immune checkpoint of the anticancer cGAMP-STING pathway in breast cancer. Proc Natl Acad Sci U S A. 2023 Dec 26;120(52):e2313693120
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory