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FLASH GENE
Symbol SLC3A1 contributors: mct/npt - updated : 21-10-2009
HGNC name solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1
HGNC id 11025
Corresponding disease
CSNU1 cystinuria-lysinuria type I
HCYS hypotonia-cystinuria syndrome
Location 2p21      Physical location : 44.502.596 - 44.547.959
Synonym name
  • B(0,+)-type amino acid transport protein
  • Synonym symbol(s) BATR, CDNAT, D2H, ATR1, rBAT, NBAT, FLJ34681
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    STRUCTURE 45.37 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Physical map
    LOC91461 2p22.1 hypothetical protein BC007901 EML4 2p22-p21 echinoderm microtubule associated protein like 4 COX7A2L 2p22.1-p16 cytochrome c oxidase subunit VIIa polypeptide 2 like LOC253584 2p22.1 hypothetical LOC253584 KCNG3 2p22.1 potassium voltage-gated channel, subfamily G, member 3 MTA3 2p21 potassium voltage-gated channel, subfamily G, member 3 TG1019 2p22.1 G-protein coupled receptor TG1019 HAAO 2p21 3-hydroxyanthranilate 3,4-dioxygenase LOC388943 2 similar to cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1 ZFP36L2 2p22.3 zinc finger protein 36, C3H type-like 2 MGC40574 2p22.1 hypothetical protein MGC40574 THADA 2p22.1 thyroid adenoma associated KIAA2028 2p22.1 similar to PH (pleckstrin homology) domain D2LIC 2p25.1-p24.1 dynein 2 light intermediate chain ABCG5 2p21 ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1) ABCG8 2p21 ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2) LRPPRC 2p21 leucine-rich PPR-motif containing PPM1B 2p22,1 protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform LOC391371 2 similar to 60S RIBOSOMAL PROTEIN L12 SLC3A1 2p16.3 solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 FLJ23451 2p22.1 hypothetical protein FLJ23451 SIX3 2p21-p16 sine oculis homeobox homolog 3 (Drosophila) LOC388944 2 LOC388944 SIX2 2p16-p15 sine oculis homeobox homolog 2 (Drosophila) LOC151111 2p21 hypothetical LOC151111 FLJ10379 2p21 hypothetical protein FLJ10379 PRKCE 2p21 protein kinase C, epsilon EPAS1 2p21-p26 endothelial PAS domain protein 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 2353 - 685 - Bertran (1993)
    - - 2401 - 407 - Parvari (2005)
    - - 1426 - 391 - Parvari (2005)
    - - 1418 - 316 - Parvari (2005)
    - - 1537 - 502 - Parvari (2005)
    - - 2909 - 564 - Parvari (2005)
    - - 2256 - 551 - Parvari (2005)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
    Endocrineneuroendocrinepituitary  highly
    Urinarybladder    
     kidney    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Urinaryepithelial cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • six potential N-glycosylation sites which might be functional in the oocyte (Bertran 1993)
  • conjugated GlycoP
    mono polymer heteromer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • solute carrier family 3, neutral aminoacid
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    text colocated in the brush border of the plasma membrane
    basic FUNCTION
  • Na+ dependent dibasic (cystine,lysine),neutral aminoacid transport,high affinity
  • mediating high affinity y+L-type transporter exchanging cationic aminoacids and/or neutral aminoacids
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • heterodimerizing with BO+AT (SLC3A1)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CSNU1 , HCYS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS