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FLASH GENE
Symbol SLC22A1 contributors: mct/npt - updated : 09-11-2016
HGNC name solute carrier family 22 (organic cation transporter), member 1
HGNC id 10963
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • cytoplasmic N and C termini
  • N-terminal transmembrane alpha-helices (TMHs) with a substrate binding domain in the middle of TMH 11, conserved in OCTsand that appears to be mechanistically important for a transport-related structural change that includes bending to TMH 11, which may be required for substrate occlusion
  • one nucleotide (ATP/GTP) binding site motif
  • twelve transmembrane domains (12TM)
  • a large extracellular loop that influences substrate affinity and is pivotal for oligomerization
  • HOMOLOGY
    intraspecies paralog to POU5F1
    Homologene
    FAMILY
  • major facilitator superfamily
  • organic cation transporter family, SLC22 transporter family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • polyspecific transporter for organic cations, sodium independent
  • non-neuronal monoamine transportersthat play a key role in the clearance of monoamines from extracellular compartments (Bottalico 2007)
  • involved in the hepatic uptake of organic cations (Umehara 2007)
  • transcription factor implicated in stress responses, metabolic control, and poised transcription states, regulates normal and pathologic stem cell function
  • regulates normal and cancer stem cell function
  • play a pivotal role in absorption, excretion, and tissue distribution of drugs and endogenous compounds, including neurotransmitters
  • membrane transporter that is important for therapeutic effect of the antidiabetic drug metformin
  • polyspecific transporter involved in the uptake of positively charged and neutral small molecules in the liver
  • plays a significant role in hepatic elimination of serotonin and xenobiotics may alter the elimination of endogenous compounds as a result of interactions at the transporter level
  • mediate the transport of organic cations including inhaled drugs across the cell membrane, in lung epithelium
  • is the dominant carrier of organic cationic drugs and some positively charged endogenous compounds into hepatocytes
  • role of SLC22A1 in the efflux of acylcarnitines from the liver to the circulation
  • is a cellular exporter of acylcarnitines in hepatocytes
  • SLC22A1 mediates transport between liver and blood and not between liver and bile
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • HNF1A regulates SLC22A1 transcription and contributes to the strong, liver-specific expression of SLC22A1
  • NR3C1-induced expression of HNF4A may likely contribute to indirect SLC22A1 gene up-regulation by dexamethasone in primary human hepatocytes, but not in hepatocyte-derived tumor cell lines
  • cell & other
    REGULATION
    Other SLC22A1, SLC22A6, SLC22A8 regulation during development and maturation of the kidney proximal tubule
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to genetic variation of metformin pharmacokinetics (Shu 2008)
  • variation in responses to imatinib in patients with chronic myeloid leukaemia
  • Variant & Polymorphism other
  • common novel splice variant of SLC22A1 is associated with impaired responses to imatinib in patients with chronic myeloid leukaemia
  • variants of SLC22A1, including p.Arg61Cys and p.Met420del variants, are known to impair metformin uptake
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS