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FLASH GENE
Symbol SLC29A4 contributors: mct/npt/pgu - updated : 30-03-2010
HGNC name solute carrier family 29 (nucleoside transporters), member 4
HGNC id 23097
Location 7p22.1      Physical location : 5.322.560 - 5.343.702
Synonym name
  • equilibrative nucleoside transporter 4
  • plasma membrane monoamine transporter
  • Synonym symbol(s) ENT4, PMAT, FLJ34923
    DNA
    TYPE functioning gene
    STRUCTURE 21.14 kb     11 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 splicing 2910 57 530 - 2007 17121826
    encoding the same protein than variant 2
    11 splicing 2907 57 530 - 2007 17121826
  • 11 exons
  • encoding the same protein than variant 1
  • differing in the 5' UTR compared to variant 1
  • EXPRESSION
    Rna function mRNA is most strongly expressed in the brain, and transcripts are also found in other organs such as the kidney, heart, and small intestine
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   moderately
     salivary gland   highly
    Nervousbrain    
     nervecranial nerve  predominantly
    Urinarykidneynephronrenal capsuleglomerulushighly
    Visualeyeanterior segmentiris  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentralwhite matter  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text liver
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • possess an 11-transmembrane domain (TM) topology
  • several putative phosphorylation sites
  • a unique substrate selectivity due to evolutionary replacement of a set of key AAs in the substrate recognition domains of the transporter
  • a C-terminal N-glycosylation site
  • secondary structure with other SLC9As, share a similar tertiary structure
    HOMOLOGY
    interspecies homolog to murine Slc29a4 (87.8 pc)
    homolog to rattus Slc29a4 (91.2 pc)
    Homologene
    FAMILY
  • SLC29 family
  • equilibrative nucleoside transporter (ENT) family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • catalyzing the reuptake of monoamines into presynaptic neurons
  • non-neuronal monoamine transporters that play a key role in the clearance of monoamines from extracellular compartments
  • can potentially regulate reuptake of monoamines in general and histamine in particular (Bottalico 2007)
  • mainly functions as a polyspecific organic cation transporter (Zhou 2007)
  • may play important roles in brain monoamine clearance as well as tissue-specific disposition of organic cations
  • polyspecific organic cation transporter that transports organic cations and the purine nucleoside, adenosine (Xia 2009)
  • specifically expressed in podocytes and may play an important role in puromycin aminonucleoside-induced kidney injury (Xia 2009)
  • functions as a polyspecific transporter for structurally diverse organic cations
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text
  • transporting serotonin, dopamine, and the neurotoxin 1-methyl-4-phenylpyridinium
  • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other sensitive to changes in membrane potential
    pH-dependent transporter activity (stimulated by extracellular pH from 7.4 to 6.6 and abolished by elevating extracellular pH to 8.2)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   translocation    
    direct target of EWS/WT1 translocation product and is highly expressed in desmoplastic small round cell tumor
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerskin 
    may represent an attractive pathway for targeting chemotherapeutic drugs into desmoplastic small round cell tumor
    ANIMAL & CELL MODELS