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SLC22A1 Gene

protein-coding   GIFtS: 63
GCID: GC06P160542

Solute Carrier Family 22 (Organic Cation Transporter), Member...

  See SLC22A1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Solute Carrier Family 22 (Organic Cation Transporter), Member 11 2     oct1_cds2
OCT12 3 5     Solute Carrier Family 22 Member 12
Organic Cation Transporter 12 3     hOCT13
HOCT12     

External Ids:    HGNC: 109631   Entrez Gene: 65802   Ensembl: ENSG000001750037   OMIM: 6026075   UniProtKB: O152453   

Export aliases for SLC22A1 gene to outside databases

Previous GC identifers: GC06P159982 GC06P160416 GC06P160452 GC06P160513 GC06P160462 GC06P158013


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SLC22A1 Gene:
Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for
elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins.
This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded
protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. Two transcript
variants encoding two different isoforms have been found for this gene, but only the longer variant encodes a
functional transporter. (provided by RefSeq, Jul 2008)

GeneCards Summary for SLC22A1 Gene:
SLC22A1 (solute carrier family 22 (organic cation transporter), member 1) is a protein-coding gene. Diseases associated with SLC22A1 include chronic myeloid leukemia. GO annotations related to this gene include quaternary ammonium group transmembrane transporter activity and identical protein binding. An important paralog of this gene is SLC22A11.

UniProtKB/Swiss-Prot: S22A1_HUMAN, O15245
Function: Translocates a broad array of organic cations with various structures and molecular weights including
the model compounds 1-methyl-4-phenylpyridinium (MPP), tetraethylammonium (TEA), N-1-methylnicotinamide (NMN),
4-(4-(dimethylamino)styryl)-N-methylpyridinium (ASP), the endogenous compounds choline, guanidine, histamine,
epinephrine, adrenaline, noradrenaline and dopamine, and the drugs quinine, and metformin. The transport of
organic cations is inhibited by a broad array of compounds like tetramethylammonium (TMA), cocaine, lidocaine,
NMDA receptor antagonists, atropine, prazosin, cimetidine, TEA and NMN, guanidine, cimetidine, choline,
procainamide, quinine, tetrabutylammonium, and tetrapentylammonium. Translocates organic cations in an
electrogenic and pH-independent manner. Translocates organic cations across the plasma membrane in both
directions. Transports the polyamines spermine and spermidine. Transports pramipexole across the basolateral
membrane of the proximal tubular epithelial cells. The choline transport is activated by MMTS. Regulated by
various intracellular signaling pathways including inhibition by protein kinase A activation, and endogenously
activation by the calmodulin complex, the calmodulin-dependent kinase II and LCK tyrosine kinase

Gene Wiki entry for SLC22A1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC22A1 gene promoter:
         COUP-TF1   COUP-TF   COUP   HNF-4alpha2   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC22A1 promoter sequence
   Search Chromatin IP Primers for SLC22A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC22A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q25.3   Ensembl cytogenetic band:  6q25.3   HGNC cytogenetic band: 6q25.3

SLC22A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC22A1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P160542:  view genomic region     (about GC identifiers)

Start:
160,542,821 bp from pter      End:
160,579,750 bp from pter
Size:
36,930 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: S22A1_HUMAN, O15245 (See protein sequence)
Recommended Name: Solute carrier family 22 member 1  
Size: 554 amino acids; 61154 Da
Secondary accessions: A6NFF3 A8K1H2 C9JSU6 O15395 Q9NQD4
Alternative splicing: 4 isoforms:  O15245-1   O15245-2   O15245-3   O15245-4   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for SLC22A1: NX_O15245

Explore proteomics data for SLC22A1 at MOPED

Post-translational modifications: 

  • Phosphorylated (By similarity)1
  • Glycosylation2 at Asn71
  • Modification sites at PhosphoSitePlus

  • See SLC22A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_003048.1  NP_694857.1  

    ENSEMBL proteins: 
     ENSP00000355930   ENSP00000443245   ENSP00000318103   ENSP00000409557   ENSP00000439274  
     ENSP00000440105  
    Reactome Protein details: O15245

    SLC22A1 Human Recombinant Protein Products:

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    Novus Biologicals SLC22A1 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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    Search eBioscience for ELISAs for SLC22A1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Organic cation transporter 1
    Organic cation transporters (OCT)

    5 InterPro protein domains:
     IPR004749 Orgcat_transp
     IPR005829 Sugar_transporter_CS
     IPR005828 Sub_transporter
     IPR020846 MFS_dom
     IPR016196 MFS_dom_general_subst_transpt

    Graphical View of Domain Structure for InterPro Entry O15245

    ProtoNet protein and cluster: O15245

    UniProtKB/Swiss-Prot: S22A1_HUMAN, O15245
    Similarity: Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19)
    family


    Find genes that share domains with SLC22A1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S22A1_HUMAN, O15245
    Function: Translocates a broad array of organic cations with various structures and molecular weights including
    the model compounds 1-methyl-4-phenylpyridinium (MPP), tetraethylammonium (TEA), N-1-methylnicotinamide (NMN),
    4-(4-(dimethylamino)styryl)-N-methylpyridinium (ASP), the endogenous compounds choline, guanidine, histamine,
    epinephrine, adrenaline, noradrenaline and dopamine, and the drugs quinine, and metformin. The transport of
    organic cations is inhibited by a broad array of compounds like tetramethylammonium (TMA), cocaine, lidocaine,
    NMDA receptor antagonists, atropine, prazosin, cimetidine, TEA and NMN, guanidine, cimetidine, choline,
    procainamide, quinine, tetrabutylammonium, and tetrapentylammonium. Translocates organic cations in an
    electrogenic and pH-independent manner. Translocates organic cations across the plasma membrane in both
    directions. Transports the polyamines spermine and spermidine. Transports pramipexole across the basolateral
    membrane of the proximal tubular epithelial cells. The choline transport is activated by MMTS. Regulated by
    various intracellular signaling pathways including inhibition by protein kinase A activation, and endogenously
    activation by the calmodulin complex, the calmodulin-dependent kinase II and LCK tyrosine kinase
    Biophysicochemical properties: Kinetic parameters: KM=1.47 mM for metformin; KM=229 uM for TEA; KM=14.6 uM for
    MPP; Vmax=396 pmol/min/mg enzyme for metformin uptake; Vmax=2.89 nmol/min/mg enzyme for TEA uptake;
    Induction: In the liver activated by HNF4A and suppressed by bile acids via NR0B2. Increased by cholesterol
    treatment in hepatocyte cells

         Genatlas biochemistry entry for SLC22A1:
    solute carrier family 22,member A1,polyspecific transporter for organic cations,mainly expressed in liver

         Gene Ontology (GO): Selected molecular function terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005277acetylcholine transmembrane transporter activity IEA--
    GO:0005329dopamine transmembrane transporter activity IEA--
    GO:0005333norepinephrine transmembrane transporter activity IEA--
    GO:0005515protein binding IPI11543633
    GO:0008504monoamine transmembrane transporter activity ----
         
    Find genes that share ontologies with SLC22A1           About GenesLikeMe


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc22a1):
     digestive/alimentary  homeostasis/metabolism  liver/biliary system  renal/urinary system 

    Find genes that share phenotypes with SLC22A1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Slc22a1tm1Ahs for SLC22A1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC22A1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC22A1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC22A1

    miRNA
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    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): SLC22A1 (NM_183233)
    Sino Biological Human cDNA Clone for SLC22A1
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC22A1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    S22A1_HUMAN, O15245: Basolateral cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    nucleus1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS9187257
    GO:0016020membrane TAS9187257
    GO:0016021integral component of membrane ----
    GO:0016323basolateral plasma membrane IEA--

    Find genes that share ontologies with SLC22A1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SLC22A1 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Organic cation/anion/zwitterion transport0.00
    Transmembrane transport of small molecules0.47
    Na+/Cl- dependent neurotransmitter transporters0.00
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    Organic cation transport0.00
    2Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neurotransmitter Clearance In The Synaptic Cleft0.00
    Neuronal System0.68
    3Neurotransmitter Release Cycle
    Neurotransmitter Release Cycle0.32
    Norepinephrine Neurotransmitter Release Cycle0.00
    4Abacavir transport and metabolism
    Abacavir transport and metabolism
    Abacavir transmembrane transport0.00
    5Metabolism
    Metabolism0.38


    Find genes that share SuperPaths with SLC22A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    5 Reactome Pathways for SLC22A1
        Neurotransmitter Clearance In The Synaptic Cleft
    Norepinephrine Neurotransmitter Release Cycle
    Na+/Cl- dependent neurotransmitter transporters
    Organic cation transport
    Abacavir transmembrane transport

    3 PharmGKB Pathways for SLC22A1
        Lamivudine Pathway, Pharmacokinetics/Pharmacodynamics
    Metformin Pathway, Pharmacokinetics
    Tramadol Pharmacokinetics

    1 Kegg Pathway  (Kegg details for SLC22A1):
        Bile secretion

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SLC22A1: 
              Nephrotoxicity in human mouse rat
              Drug Transporters in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SLC22A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for SLC22A1 (O152451, 3 ENSP000003559304) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CERS2Q96G231, 3, ENSP000002716884EBI-1172714,EBI-1057080 I2D: score=3 STRING: ENSP00000271688
    POU2AF1Q166333I2D: score=1 
    ABCB1ENSP000002657244STRING: ENSP00000265724
    ABCG2ENSP000002376124STRING: ENSP00000237612
    SLC22A6ENSP000003671024STRING: ENSP00000367102
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006812cation transport ----
    GO:0006855drug transmembrane transport TAS--
    GO:0010248establishment or maintenance of transmembrane electrochemical gradient IEA--
    GO:0015695organic cation transport TAS9187257
    GO:0015697quaternary ammonium group transport ----

    Find genes that share ontologies with SLC22A1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SLC22A1 (S22A1)

    3 HMDB Compounds for SLC22A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Choline(2-Hydroxyethyl)trimethyl ammonium (see all 19)62-49-7--
    Spermidine1,5,10-Triazadecane (see all 15)124-20-9--
    Spermine1,5,10,14-Tetraazatetradecane (see all 18)71-44-3--

    Selected DrugBank Compounds for SLC22A1 (see all 68)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    CholineBilineurine (see all 7)62-49-7transportersubstrate inhibitor10570053 9187257 10385678 9655880 12606755 11758759 10082798 8955087 9195965 11060354 11463829 12176030 11553644 10216142
    Quinidine-- 56-54-2transportersubstrate inhibitor10027858 9187257 11502595 9655880 12606755 8878062 8955087 8898084 11060354 9808712 11408531 15716364
    Procainamide-- 51-06-9transporterinhibitor12438515 9187257 9655880 12606755 15640376 11758759 7990927 9195965 12176030 10216142
    Quinine6'-Methoxycinchonidine (see all 6)130-95-0transportersubstrate inhibitor12438515 9187257 11502595 9655880 8878062 7990927 8955087 8898084 12176030 11553644
    Cimetidine-- 51481-61-9transportersubstrate inhibitor9187257 10385678 9655880 10082798 9195965 11463829 12176030 9808712 12130709
    DopamineDopamin (see all 6)51-61-6transportersubstrate inhibitor9655880 12606755 11758759 8898084 9776363
    Histamine Phosphate-- 51-74-1transportersubstrate inhibitor10385678 11502595 12606755 11758759 8898084
    Metformin-- 657-24-9transportersubstrate inhibitor18788725 19915604 12130709 19536068 12240953
    Amantadine1-aminoadamantane (see all 9)768-94-5transporterinhibitor12438515 9655880 12606755 15640376
    ClonidineChlornidinum (see all 6)4205-90-7transporterinhibitor9187257 9655880 12606755 8878062

    Selected Novoseek inferred chemical compound relationships for SLC22A1 gene (see all 35)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    moxa 86.5 1 12807698 (1)
    1 methyl 4 phenylpyridinium 84.1 15 10385678 (3), 17701831 (2), 10711363 (1), 16722235 (1) (see all 7)
    metformin 71 53 17476361 (7), 17111267 (4), 19768675 (4), 19898263 (3) (see all 19)
    tetraethylammonium 70.5 6 17701831 (2), 9260930 (1), 16914559 (1), 10385678 (1)
    imatinib 68.1 77 19950608 (9), 20147974 (7), 18483382 (5), 18669873 (4) (see all 14)
    cimetidine 68 2 17701831 (2)
    n(1)-methylnicotinamide 66.8 2 9260930 (1)
    agmatine 65.7 1 12538837 (1)
    procainamide 59.3 3 15315971 (1)
    quinidine 57.7 2 11408531 (1)

    5 PharmGKB related drug/compound annotations for SLC22A1 gene    About this table
    Drug/compound PharmGKB Annotation
    metforminCA  
    morphineCA  
    sulfamethoxazole
    tramadolCA  
    trimethoprim



    Find genes that share compounds with SLC22A1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SLC22A1 gene (2 alternative transcripts): 
    NM_003057.2  NM_153187.1  

    Unigene Cluster for SLC22A1:

    Solute carrier family 22 (organic cation transporter), member 1
    Hs.117367  [show with all ESTs]
    Unigene Representative Sequence: NM_003057
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000366963(uc003qtc.3 uc003qtd.3) ENST00000539263 ENST00000324965
    ENST00000457470 ENST00000460902 ENST00000540443 ENST00000478607
    miRNA
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SLC22A1
      QuantiTect SYBR Green Assays in human, mouse, rat SLC22A1
      QuantiFast Probe-based Assays in human, mouse, rat SLC22A1

    Additional mRNA sequence: 

    AK289887.1 BC126364.1 U77086.1 X98332.1 

    4 DOTS entries:

    DT.101983572  DT.408196  DT.40130706  DT.95153666 

    Selected AceView cDNA sequences (see all 25):

    AI222534 AI688633 NM_003057 NM_153187 U77086 AI033457 AA417764 CB163745 
    AA700114 CA306061 BX475975 AW612365 AA702013 X98332 BX427835 BX113941 
    CB158492 CB163283 BX427834 BG186332 BG203829 CF994710 CB153404 AV684761 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLC22A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGGACGCCG
    SLC22A1 Expression
    About this image


    SLC22A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Liver (Hepatobiliary System)
             Perivenous Hepatocytes Liver Lobule
     
     Heart (Cardiovascular System)
             Atrioventricular Node Cells Atrioventricular Node
    SLC22A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC22A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.117367

    UniProtKB/Swiss-Prot: S22A1_HUMAN, O15245
    Tissue specificity: Widely expressed with high level in liver. Isoform 1 and isoform 2 are expressed in liver.
    Isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in glial cell lines

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SLC22A1: 
              Nephrotoxicity in human mouse rat
              Drug Transporters in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SLC22A1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc22a11 , 5 solute carrier family 22 (organic cation transporter), more1, 5 80.57(n)1
    77.98(a)1
      17 (8.63 cM)5
    205171  NM_009202.51  NP_033228.21 
     126488745 
    chicken
    (Gallus gallus)
    Aves --
    --
    Uncharacterized protein
    64(a)
    63(a)
    many ↔ many
    many ↔ many
    3(44758630-44770587)
    3(44744676-44757319)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    63(a)
    61(a)
    many ↔ many
    many ↔ many
    1(211874719-211897469)
    1(211901351-211922466)
    zebrafish
    (Danio rerio)
    Actinopterygii slc22a26
    solute carrier family 22 (organic cation transport...
    47(a)
    1 → many
    20(42700606-42720218) ENSDARG00000030530
    fruit fly
    (Drosophila melanogaster)
    Insecta Orct3 carnitine transporter 34(a)
    (best of 12)
      95F8   --


    ENSEMBL Gene Tree for SLC22A1 (if available)
    TreeFam Gene Tree for SLC22A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC22A1 gene
    SLC22A112  SLC22A52  SLC22A82  SLC22A242  SLC22A42  SLC22A22  SLC22A102  SLC22A132  
    SLC22A92  SLC22A62  SLC22A152  SLC22A122  SLC22A72  SLC22A162  SLC22A32  SLC22A252  
    11 SIMAP similar genes for SLC22A1 using alignment to 3 protein entries:     S22A1_HUMAN (see all proteins):
    SLC22A2    SLC22A3    SLC22A4    SLC22A5    SLC22A13    SLC22A11
    SLC22A16    SLC22A6    SLC22A8    SLC22A10    SLC22A12

    Find genes that share paralogs with SLC22A1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SLC22A1 (see all 1062)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1821446611,2
    --160541108(+) CCATCA/GCACTC 2 -- us2k10--------
    rs69352071,2
    C,F,A,H--160541173(+) GgccAG/ATTGAA 2 -- us2k113Minor allele frequency- A:0.47NS EA NA WA CSA 1138
    rs1459757531,2
    C--160541205(+) TTTTT-/TATTGT 2 -- us2k10--------
    rs1867656561,2
    C--160541208(+) TGATTG/TTTTTA 2 -- us2k10--------
    rs1127858101,2
    C--160541283(+) CTTTCA/GCCAGC 2 -- us2k10--------
    rs94578401,2
    C,F,H--160541348(+) AGTCCT/CGTTGA 2 -- us2k119Minor allele frequency- C:0.11NS EA NA WA CSA 2476
    rs1511208061,2
    --160541402(+) AAAACA/GAAATC 2 -- us2k10--------
    rs121106561,2
    C,F--160541549(+) gagatT/Agttat 2 -- us2k1 tfbs32Minor allele frequency- A:0.12NA WA 120
    rs575041331,2
    F--160541770(+) CTTATA/GTAATT 2 -- us2k11Minor allele frequency- G:0.04WA 118
    rs1840075661,2
    C--160541919(+) TATAAC/TGGTAG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for SLC22A1 (160542821 - 160579750 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SLC22A1 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2733048CNV Deletion23290073
    esv2733047CNV Deletion23290073
    esv1157586CNV Deletion17803354
    esv2733046CNV Deletion23290073
    esv2733049CNV Deletion23290073
    esv23905CNV Loss19812545
    nsv886807CNV Loss21882294
    esv33283CNV Gain17666407
    nsv818463CNV Gain17921354
    esv35098CNV Gain17911159

    Human Gene Mutation Database (HGMD): SLC22A1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC22A1
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC22A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602607    OMIM disorders: --

    1 disease for SLC22A1:    
    About MalaCards
    chronic myeloid leukemia

    1 disease from the University of Copenhagen DISEASES database for SLC22A1:
    Chronic myeloid leukemia

    Find genes that share disorders with SLC22A1           About GenesLikeMe

    4 Novoseek inferred disease relationships for SLC22A1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myeloid leukemia chronic 55.2 12 18669873 (2), 20147974 (2), 19954617 (1), 19021069 (1) (see all 5)
    glioma 21.6 1 8692289 (1)
    breast cancer 0 5 17934801 (2), 19220984 (1)
    tumors 0 3 18515332 (3)

    Genetic Association Database (GAD): SLC22A1
    Human Genome Epidemiology (HuGE) Navigator: SLC22A1 (30 documents)

    Export disorders for SLC22A1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SLC22A1 gene, integrated from 10 sources (see all 244):
    (articles sorted by number of sources associating them with SLC22A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and functional expression of a human liver organic cation transporter. (PubMed id 9187257)1, 2, 7, 9 Zhang L....Giacomini K.M. (Mol. Pharmacol. 1997)
    2. The effects of genetic polymorphisms in the organic cation transporters OCT1, OCT2, and OCT3 on the renal clearance of metformin. (PubMed id 19536068)1, 4, 7, 9 Tzvetkov M.V....BrockmAPller J. (Clin. Pharmacol. Ther. 2009)
    3. Seven novel single nucleotide polymorphisms in the human SLC22A1 gene encoding organic cation transporter 1 (OCT1). (PubMed id 15499200)1, 2, 4, 9 Itoda M.... Sawada J. (Drug Metab. Pharmacokinet. 2004)
    4. Expression of organic cation transporters OCT1 (SLC22A1) and OCT3 (SLC22A3) is affected by genetic factors and cholestasis in human liver. (PubMed id 19591196)1, 4, 9 Nies A.T....Schaeffeler E. (Hepatology 2009)
    5. Functional characterization of an organic cation transporter (hOCT1) in a transiently transfected human cell line (HeLa). (PubMed id 9655880)2, 7, 9 Zhang L.... Giacomini K.M. (J. Pharmacol. Exp. Ther. 1998)
    6. Regulation of the human organic cation transporter hOCT1. (PubMed id 15389554)1, 2, 9 Ciarimboli G.... Hirsch J.R. (J. Cell. Physiol. 2004)
    7. Evolutionary conservation predicts function of variants of the human organic cation transporter, OCT1. (PubMed id 12719534)1, 2, 9 Shu Y.... Giacomini K.M. (Proc. Natl. Acad. Sci. U.S.A. 2003)
    8. Molecular cloning, functional characterization and genomic organization of four alternatively spliced isoforms of the human organic cation transporter 1 (hOCT1/SLC22A1). (PubMed id 11388889)1, 2, 9 Hayer M.... Bruess M. (Ann. Hum. Genet. 1999)
    9. Human organic cation transporter (OCT1 and OCT2) gene polymorphisms and therapeutic effects of metformin. (PubMed id 17111267)1, 4, 9 Shikata E....Ieiri I. (J. Hum. Genet. 2007)
    10. Comparison of 'type I' and 'type II' organic cation transport by organic cation transporters and organic anion-transporting polypeptides. (PubMed id 11408531)2, 7, 9 van Montfoort J.E.... Meier P.J. (J. Pharmacol. Exp. Ther. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6580 HGNC: 10963 AceView: SLC22A1 Ensembl:ENSG00000175003 euGenes: HUgn6580
    ECgene: SLC22A1 Kegg: 6580 H-InvDB: SLC22A1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SLC22A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC22A1 gene:
    Search GeneIP for patents involving SLC22A1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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