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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
Location 6q25.3      Physical location : 160.542.862 - 160.579.748
Synonym name organic cation transporter
Synonym symbol(s) OCT1, HOCT1
DNA
TYPE functioning gene
STRUCTURE 37.41 kb     11 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
VIL2 6q25-q26 villin 2 (ezrin) LOC389439 6 LOC389439 LOC202459 6q25.3 similar to RIKEN cDNA 2310008M10 LOC389440 6 LOC389440 LOC346064 6q25.3 similar to SNARE protein Ykt6; YKT6, S. cerevisiae, homolog of RSHL2 6q25.3 radial spokehead-like 2 TAGAP 6q25.3 T-cell activation GTPase activating protein LOC389441 6 LOC389441 LOC389442 6 LOC389442 LOC389443 6 LOC389443 LOC389444 6 similar to frazzled CG8581-PA FNDC1 6q25 fibronectin type III domain containing 1 LOC389445 6 similar to 60S ribosomal protein L21 SOD2 6q25.2 superoxide dismutase 2, mitochondrial WTAP 6q25-q27 Wilms tumor 1 associated protein ACAT2 6q25.3-q26 acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase) TCP1 6q25.1-q25.2 t-complex 1 MRPL18 6q25.3 mitochondrial ribosomal protein L18 PNLDC1 6q25.3 poly(A)-specific ribonuclease (PARN)-like domain containing 1 MAS1 6q25.3-q26 MAS1 oncogene IGF2R 6q26-q27 insulin-like growth factor 2 receptor SLC22A1 6q27 solute carrier family 22 (organic cation transporter), member 1 SLC22A2 6q26-q27 solute carrier family 22 (organic cation transporter), member 2 SLC22A3 6q26-q27 solute carrier family 22 (extraneuronal monoamine transporter), member 3 APOAL 6q26-q27 apolipoprotein A-like LPA 6q26-q27 lipoprotein, Lp(a) PLG 6q26 plasminogen LOC389446 6 similar to apolipoprotein(a) (EC 3.4.21.-) - rhesus macaque (fragment) LOC389447 6 LOC389447 MAP3K4 6q25.3 mitogen-activated protein kinase kinase kinase 4 AGPAT4 6q25.3 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) C6orf59 6q25.3 chromosome 6 open reading frame 59 PARK2 6q25.2-q27 Parkinson disease (autosomal recessive, juvenile) 2, parkin
RNA
TRANSCRIPTS type messenger
text four alternatively spliced isoforms one large and three shorter forms
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 1921 - 554 - 2015 25883089
10 - 1808 - 506 - 2015 25883089
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   specific Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Digestivehepatocyte Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
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
  • 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
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS