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Slc29a1 Gene Detail
Summary
  • Symbol
    Slc29a1
  • Name
    solute carrier family 29 (nucleoside transporters), member 1
  • Synonyms
    1200014D21Rik, ENT1, NBMPR-sensitive equilibrative nucleoside transporter
  • Feature Type
    protein coding gene
  • IDs
    MGI:1927073
    NCBI Gene: 63959
  • Alliance
  • Transcription Start Sites
    21 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:45585200-45599603 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 22.59 cM, cytoband C
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    43 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1927073
protein coding gene Chr17:45585200-45599606 (-)
129S1/SvImJ MGP_129S1SvImJ_G0023794
protein coding gene Chr17:46604506-46620212 (-)
A/J MGP_AJ_G0023752
protein coding gene Chr17:45491922-45506484 (-)
AKR/J MGP_AKRJ_G0023723
protein coding gene Chr17:45806207-45820453 (-)
BALB/cJ MGP_BALBcJ_G0023756
protein coding gene Chr17:45380002-45394498 (-)
C3H/HeJ MGP_C3HHeJ_G0023520
protein coding gene Chr17:46515302-46531522 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024199
protein coding gene Chr17:48617880-48632975 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021649
protein coding gene Chr17:42286755-42301194 (-)
CAST/EiJ MGP_CASTEiJ_G0023001
protein coding gene Chr17:46621348-46635548 (-)
CBA/J MGP_CBAJ_G0023496
protein coding gene Chr17:50345937-50363295 (-)
DBA/2J MGP_DBA2J_G0023622
protein coding gene Chr17:44284584-44298981 (-)
FVB/NJ MGP_FVBNJ_G0023589
protein coding gene Chr17:43858211-43873587 (-)
LP/J MGP_LPJ_G0023703
protein coding gene Chr17:47250265-47266113 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0023618
protein coding gene Chr17:49914887-49929861 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024244
protein coding gene Chr17:46169575-46184017 (-)
PWK/PhJ MGP_PWKPhJ_G0022746
protein coding gene Chr17:43589168-43604428 (-)
SPRET/EiJ MGP_SPRETEiJ_G0022561
protein coding gene Chr17:43032379-43046627 (-)
WSB/EiJ MGP_WSBEiJ_G0023066
protein coding gene Chr17:46687036-46701223 (-)



Homology
more
  • Human Ortholog
    SLC29A1, solute carrier family 29 member 1 (Augustine blood group)
  • Vertebrate Orthologs
    11
  • Human Ortholog
    SLC29A1, solute carrier family 29 member 1 (Augustine blood group)
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ENT1
  • Links
    NCBI Gene ID: 2030
    neXtProt AC: NX_Q99808
    UniProt: Q99808

  • Chr Location
    6p21.1; chr6:44219505-44234151 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 37985
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;2 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: SLC29A1
  • Protein SuperFamily
    ENT
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Slc29a1 mouse models

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    36 phenotypes from 2 alleles in 4 genetic backgrounds
    3 phenotypes from multigenic genotypes
    29 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 targeted null allele exhibit a slightly decreased body weight, increased alcohol preference and alcohol consumption, and reduced hypnotic and ataxic responses to ethanol associated with a reduction in adenosine tone. Adenosine uptake is almost completely abolished in mice homozygous for a knock-out allele.
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
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 63959 NCBI Gene Model | MGI Sequence Detail 14404 C57BL/6J ±  kb
    transcript NM_001357771 RefSeq | MGI Sequence Detail 2142 C57BL/6  
    polypeptide Q9JIM1 UniProt | EBI | MGI Sequence Detail 460 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 23
      Genomic 1
      cDNA 20
      Primer pair 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1923527, MGI:2146741
    References
    more
    • Summaries
      All 62
      Developmental Gene Expression 3
      Diseases 2
      Gene Ontology 8
      Phenotypes 29
    • Earliest
      J:65172 Choi DS, et al., Genomic organization and expression of the mouse equilibrative, nitrobenzylthioinosine-sensitive nucleoside transporter 1 (ENT1) gene. Biochem Biophys Res Commun. 2000 Oct 14;277(1):200-8
    • Latest
      J:267003 Best KA, et al., Changes in aortic reactivity associated with the loss of equilibrative nucleoside transporter 1 (ENT1) in mice. PLoS One. 2018;13(11):e0207198

    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
    12/04/2018
    MGI 6.13
    The Jackson Laboratory