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FLASH GENE
Symbol SLC22A4 contributors: shn - updated : 13-01-2009
HGNC name solute carrier family 22 (organic cation/ergothioneine transporter), member 4
HGNC id 10968
Location 5q31.1      Physical location : 131.630.144 - 131.679.897
Synonym name
  • organic cation transporter
  • integral membrane transport protein
  • ergothioneine transporter
  • Synonym symbol(s) OCTN1, MGC34546, UT2H, MGC40524, ETT
    DNA
    TYPE functioning gene
    STRUCTURE 49.76 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Map cen - D5S2057 - D5S1984 - SLC22A4 - D5S2002 - D5S2497 - qter cDNA for a novel proton/organic cation transporter, OCTN1 , was cloned from human fetal liver and was mapped to 5q31
    Physical map
    SPEC2 5q31 KIAA1061 protein PDZGEF2 5q31.1 PDZ domain containing guanine nucleotide exchange factor (GEF) 2 ACTBP4 5q23.3 actin, beta pseudogene 4 FACL6 5q31 fatty-acid-Coenzyme A ligase, long-chain 6 IL3 5q31.1 interleukin 3 (colony-stimulating factor, multiple) CSF2 5q31.1 colony stimulating factor 2 (granulocyte-macrophage) LOC389325 5 LOC389325 P4HA2 5q31.1 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II RIL 5q31.1 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II SLC22A4 5q31.2 solute carrier family 22 (organic cation transporter), member 4 SLC22A5 5q31.1-q32 solute carrier family 22 (organic cation transporter), member 5 LOC389326 5 hypothetical gene supported by AK096941; AK128882 IRF1 5q31.1 interferon regulatory factor 1 IL5 5q31.1 interleukin 5 (colony-stimulating factor, eosinophil) RAD50 5q31 RAD50 homolog (S. cerevisiae) IL13 5q31.1 interleukin 13 IL4 5q31.1 interleukin 4 KIF3A 5q31 kinesin family member 3A SEPT8 5q31 kinesin family member 3A LOC134548 5q31.1 hypothetical protein LOC134548 APXL2 5q31.1 hypothetical protein LOC134548 GDF9 5q31.1 growth differentiation factor 9 QP-C 5q31.1 low molecular mass ubiquinone-binding protein (9.5kD) LEAP-2 5q31.1 liver-expressed antimicrobial peptide 2 AF5Q31 5q31 liver-expressed antimicrobial peptide 2 LOC389327 5 hypothetical gene supported by AK129671 LOC391832 5 similar to putative nucleic acid binding protein RY-1 FLJ20094 5q31.1 hypothetical protein FLJ20094 HSPA4 5q31.1-q32 heat shock 70kDa protein 4 KIAA1061 5q31.1 KIAA1061 protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 2.214 65 551 expression in human corneal and conjunctival epithelial cells 2008 18641280
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiens
    Digestiveintestine   highly Homo sapiens
     liver   highly Homo sapiens
    Nervousbrain   highly Homo sapiens
     spinal cord   highly
    Reproductivefemale systembreastmammary gland highly
     male systemprostate  highly
    Respiratoryrespiratory tracttrachea   
    Urinarykidneytubule  highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone   
    Muscularstriatumskeletal highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticmature hematopoietic
    skeletonsynovium
    cell lineage OCTN1 mRNA expression was detected in cultured human corneal-limbal epithelial (HCLE) and human conjunctival epithelial (HCjE) cells of rabbits and humans
    cell lines cancer cell lines (G361, A549, SW480, K-562, HeLa cellS3)
    fluid/secretion
    at STAGE
    physiological period fetal
    Text liver, kidney, lung, brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • eleven predicted transmembrane domains
  • a nucleotide-binding site motif
  • a motif conserved in sugar transporters
  • four potential N-glycosylation sites
  • five potential protein kinase C phosphorylation sites
  • HOMOLOGY
    interspecies homolog to murine Slc22a4
    homolog to rattus Actn1
    intraspecies homolog to slc22a5
    Homologene
    FAMILY
  • major facilitator superfamily
  • organic cation transporter family
  • CATEGORY enzyme , transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    text renal tubule apical membrane
    basic FUNCTION
  • polyspecific transporter of organic cations, pH dependent, sodium independent, functioning as a transporter in lymphoid organs or inflammatory milieu
  • may play a significant role in transport of carnitine in occular tissues and an intrinsic homeostatic role for carnitine in eye
  • contributes less to carnitine transport than SLC22A5 because of its low carnitine transport activity
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text carnitine transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • RUNX1 binding
  • cell & other
    REGULATION
    Other regulated by RUNX1
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • a SNP affects the transcriptional efficiency of SLC22A4 in vitro, owing to an allelic difference in affinity to Runt-related transcription factor-1 (RUNX1; 151385), a transcriptional regulator in the hematopoietic system. A SNP in RUNX1 (151385.0007) was also strongly associated with rheumatoid arthritis
  • regulation of SLC22A4 expression by RUNX1 is associated with susceptibility to rheumatoid arthritis
  • to Crohn disease (see IBD5)
  • Variant & Polymorphism SNP , other a missense substitution increasing the susceptibility to Crohn disease
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS