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FLASH GENE
Symbol SLC29A3 contributors: mct - updated : 19-10-2013
HGNC name solute carrier family 29 (nucleoside transporters), member 3
HGNC id 23096
Corresponding disease
DOSCO dysosteosclerosis
HJCD2 histiocytosis with joint contractures and neurosensory deafness 2
HSDR H syndrome
PHID pigmented hypertrichotic dermatosis with insulin-dependent diabetes
Location 10q22.1      Physical location : 73.079.009 - 73.123.145
Synonym name equilibrative nucleoside transporter 3
Synonym symbol(s) ENT3, FLJ11160, UNQ717/PRO1380, HCLAP, HJCD, PHID
DNA
TYPE functioning gene
STRUCTURE 44.14 kb     6 Exon(s)
MAPPING cloned Y linked N status provisional
Physical map
LOC389977 10 similar to ribosomal protein L5; 60S ribosomal protein L5 COL13A1 10q21.2-q22.1 collagen, type XIII, alpha 1 LOC387686 10 LOC387686 H2AFY2 10q22.3 H2A histone family, member Y2 AMID 10q22.2 apoptosis-inducing factor (AIF)-homologous mitochondrion-associated inducer of death MGC34695 10q22.2 hypothetical protein MGC34695 SARA1 10q22.2 SAR1a gene homolog 1 (S. cerevisiae) CALM2P2 10q22.2 calmodulin 2 pseudogene 2 PP 10q22.1-q22.2 pyrophosphatase (inorganic) OT7T022 10q21-q22 neuropeptide FF 1; RFamide-related peptide receptor FLJ10751 10q22.2 hypothetical protein FLJ10751 LOC221017 10q22.2 similar to chromosome 6 open reading frame 182 EIF4EBP2 10q21-q22 eukaryotic translation initiation factor 4E binding protein 2 NODAL 10q21.1-q22.2 nodal homolog (mouse) KIAA1274 10q22.1 nodal homolog (mouse) PRF1 10q22.2 perforin 1 (pore forming protein) ADAMTS14 10q21.3 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14 C10orf27 10q22.2 chromosome 10 open reading frame 27 LOC338611 10q22.2 similar to 40S ribosomal protein S26 SGPL1 10q22 sphingosine-1-phosphate lyase 1 PCBD 10q22 6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) UNC5B 10q22.2 unc-5 homolog B (C. elegans) SLC29A3 10q22.2 solute carrier family 29 (nucleoside transporters), member 3 CDH23 10q22.3 cadherin related 23 PSAP 10q22.1 prosaposin (variant Gaucher disease and variant metachromatic leukodystrophy) CHST3 10q22.1 carbohydrate (chondroitin 6) sulfotransferase 3 SPOCK2 10pter-q25.3 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 CGI-18 10pter-q25.3 CGI-18 protein LOC119504 10q22.2 hypothetical protein LOC119504 RTP801 DNAJB12 10q22.3 DnaJ (Hsp40) homolog, subfamily B, member 12 CBARA1 10q22.3 calcium binding atopy-related autoantigen 1 C10orf42 10q22.2 chromosome 10 open reading frame 42
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 2318 - 475 - 2005 15701636
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivefemale systembreastmammary gland highly
 female systemuteruscervix highly
 female systemplacenta  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone  highly Mus musculus
cells
SystemCellPubmedSpeciesStageRna symbol
Respiratoryalveolar cell type 2
Skeletonosteoclast Mus musculus
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • long N-terminal hydrophilic domains that bear typical (DE)XXXL(LI) endosomal/lysosomal targeting motifs, cytoplasmic
  • 11 transmembrane helices
  • an extracellular C terminus
  • HOMOLOGY
    interspecies homolog to murine Ent3
    Homologene
    FAMILY
  • SLC29A transporter family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    text may localize to acidic late endosomes, lysosomes and mitochondria
    basic FUNCTION
  • transports hydrophilic nucleosides, nucleobases and nucleoside analogue drugs across cell membranes
  • functions as a pH-dependent transporter of nucleosides across the lysosomal membrane
  • late endosomal/lysosomal transporter involved in the export of nucleosides from the lysosomal interior
  • having broad nucleoside selectivity (uridine, ademosine and cytidine) and most likely functioning to transport nucleosides across intracellular membranes, in acidic, intracellular compartments
  • involved in mitochondrial transport and may play an important role in mediating clinically observed mitochondrial toxicity of nucleoside drugs
  • playing a role in glucose metabolism is a priority for diabetes research
  • acidic pH-dependent nucleoside transporter
  • essential transmembrane transporter to maintain lysosome integrity by regulating nucleoside trafficking
  • potential role in the control of osteoclast differentiation and function
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HSDR , PHID , HJCD2 , DOSCO
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    is responsible of excess accumulation of nucleosides in lysosomes and led to perturbed lysosomal functions and homeostasis of macrophages
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice lacking the equilibrative nucleoside transporter 3 (Ent3) developed a spontaneous and progressive macrophage-dominated histiocytosis