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Entpd1 Gene Detail
Summary
  • Symbol
    Entpd1
  • Name
    ectonucleoside triphosphate diphosphohydrolase 1
  • Synonyms
    2610206B08Rik, Cd39, ectoapyrase, NTPDase-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:102805
    NCBI Gene: 12495
  • Gene Overview
    MyGene.info: ENTPD1
Location & Maps
more
  • Sequence Map
    Chr19:40612366-40741602 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      129237 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 34.25 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    ENTPD1, ectonucleoside triphosphate diphosphohydrolase 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    ENTPD1, ectonucleoside triphosphate diphosphohydrolase 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ATPDase, CD39, NTPDase-1, SPG64
  • Links
    NCBI Gene ID: 953
    neXtProt AC: NX_P49961

  • Chr Location
    10q24; chr10:95710906-95877266 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human ENTPD1 associations

Human Disease Mouse Models
       Spastic Paraplegia 64, Autosomal Recessive; SPG64   OMIM: 615683
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    32 phenotypes from 4 alleles in 5 genetic backgrounds
    49 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.
Mice homozygous for disruptions in this gene display abnormalities in muscle contraction, synaptic transmitter release and blood coagulation.
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 OTTMUSG00000029031 VEGA Gene Model | MGI Sequence Detail 129237 C57BL/6J ±  kb
transcript OTTMUST00000072026 VEGA | MGI Sequence Detail 2409 Not Applicable  
polypeptide OTTMUSP00000036990 VEGA | MGI Sequence Detail 539 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    874 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    8 Sequences
  • Protein Ontology
    PR:000001854 ectonucleoside triphosphate diphosphohydrolase 1
  • EC
  • InterPro Domains
    IPR000407 Nucleoside phosphatase GDA1/CD39
Molecular
Reagents
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  • All nucleic 62
    Genomic 5
    cDNA 56
    Primer pair 1

    Microarray probesets 7
Other
Accession IDs
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MGD-MRK-19713, MGI:1919726, MGI:2147438
References
more
  • Summaries
    All 82
    Developmental Gene Expression 2
    Gene Ontology 5
    Phenotypes 49
  • Earliest
    J:20864 Maliszewski CR, et al., The CD39 lymphoid cell activation antigen. Molecular cloning and structural characterization. J Immunol. 1994 Oct 15;153(8):3574-83
  • Latest
    J:228593 Mascanfroni ID, et al., Metabolic control of type 1 regulatory T cell differentiation by AHR and HIF1-alpha. Nat Med. 2015 Jun;21(6):638-46

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory