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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC22A1 Gene

protein-coding   GIFtS: 61
GCID: GC06P160542

solute carrier family 22 (organic cation transporter), member...

 Explore 21 diseases affiliated with
SLC22A1 via our new
 Human Malady Compendium 
Biological research products
for SLC22A1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Solute Carrier Family 22 (Organic Cation Transporter), Member 11 2     Oct1_cds1
OCT11 2 3 5     Solute Carrier Family 22 Member 12
Organic Cation Transporter 12 3     HOCT12
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SLC22A1:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SLC22A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: S22A1_HUMAN, O15245 (See protein sequence)
Recommended Name: Solute carrier family 22 member 1  
Size: 554 amino acids; 61154 Da
Subcellular location: Basolateral cell membrane; Multi-pass membrane protein
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

Post-translational modifications:

  • Phosphorylated (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O15245

  • SLC22A1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000355930   ENSP00000443245   ENSP00000318103   ENSP00000409557   ENSP00000439274  
     ENSP00000440105  
    Reactome Protein details: O15245
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    Browse Proteins at Uscn

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS9187257
    GO:0016020membrane TAS9187257
    GO:0016323basolateral plasma membrane IEA--


    SLC22A1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SLC22A1 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR005829 Sugar_transporter_CS
     IPR005828 Sub_transporter
     IPR020846 MFS_dom
     IPR004749 Orgcat_transp
     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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    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

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    Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    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 IPI--
    GO:0008504monoamine transmembrane transporter activity ----


    SLC22A1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Slc22a1tm1Ahs for SLC22A1
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc22a1):
     digestive/alimentary  homeostasis/metabolism  liver/biliary system  renal/urinary system 

    SLC22A1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/12 super-pathways (see all 12About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport1.00
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    Transmembrane transport of small molecules0.50
    2Abacavir transport and metabolism
    Abacavir transport and metabolism1.00
    Metformin Pathway, Pharmacokinetics0.21
    Abacavir transmembrane transport0.50
    3Organic cation/anion/zwitterion transport
    Organic cation/anion/zwitterion transport1.00
    Organic cation transport0.62
    4Transmission across Chemical Synapses
    Transmission across Chemical Synapses1.00
    Neuronal System0.67
    5Amine compound SLC transporters
    Amine compound SLC transporters1.00
    Na+/Cl- dependent neurotransmitter transporters0.63

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/15        Reactome Pathways for SLC22A1 (see all 15)
        Transmission across Chemical Synapses
    Metabolism
    Na+/Cl- dependent neurotransmitter transporters
    Abacavir transmembrane transport
    Amine compound SLC transporters

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

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


    SLC22A1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC22A1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5 Interacting proteins for SLC22A1 (O152451, 3 ENSP000003559304) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CERS2Q96G231, 3, ENSP000002716884EBI-1172714,EBI-1057080 I2D: score=3 STRING: ENSP00000271688
    POU2AF1Q166333I2D: score=1 
    ABCB1ENSP000002657244STRING: ENSP00000265724
    ABCG2ENSP000002376124STRING: ENSP00000237612
    --ENSP000002282174STRING: ENSP00000228217
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    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 ----


    SLC22A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC22A1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SLC22A1

    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--

    10/63 DrugBank Compounds for SLC22A1 (see all 63)    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
    DopamineDopamin (see all 6)51-61-6transportersubstrate inhibitor9655880 12606755 11758759 8898084 9776363
    Histamine Phosphate-- 51-74-1transportersubstrate inhibitor10385678 11502595 12606755 11758759 8898084
    MetforminMetformin HCL (see all 2)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

    10/35 Novoseek 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)

    1 PharmGKB related drug/compound annotation for SLC22A1 gene
    Drug/compound PharmGKB Annotation
    metforminCA  
    About this table

    Search CenterWatch for drugs/clinical trials and news about SLC22A1 / S22A1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
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    About This Section

    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

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    Additional cDNA sequence: 

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

    4 DOTS entries:

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

    24/25 AceView cDNA sequences (see all 25):

    NM_153187 AI688633 NM_003057 AI222534 AA417764 U77086 AA702013 CB163283 
    BX113941 CB163745 BX475975 AA700114 CA306061 AW612365 X98332 BX427834 
    AI033457 BX427835 CB158492 BG186332 CF994710 BG203829 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC22A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAGGACGCCG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See SLC22A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC22A1

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including SLC22A1: 
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SLC22A1 gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SLC22A26
    SLC22A26
    Uncharacterized protein
    64(a)
    58(a)
    many ↔ many
    many ↔ many
    3(47342836-47355320)
    3(47328995-47340405)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    63(a)
    58(a)
    many ↔ many
    many ↔ many
    1(211874887-211895762)
    1(211901481-211922103)
    zebrafish
    (Danio rerio)
    Actinopterygii slc22a26
    CU638714.26
    --
    47(a)
    30(a)
    1 ↔ many
    possible ortholog
    20(42700607-42720218)
    24(20432232-20434293)
    fruit fly
    (Drosophila melanogaster)
    Insecta Orct3 carnitine transporter 34(a)
    (best of 12)
      95F8   --
    worm
    (Caenorhabditis elegans)
    Secernentea B0252.33   -- 29(a)
    (best of 7)
      II(6902944-6907197)   --


    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)
    About This Section
    Paralogs for SLC22A1 gene
    SLC22A82  SLC22A102  SLC22A152  SLC22A72  SLC22A122  SLC22A112  SLC22A52  SLC22A42  
    SLC22A242  SLC22A22  SLC22A132  SLC22A92  SLC22A62  SLC22A252  SLC22A162  SLC22A32  
    15 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    SLC22A14    SLC22A10    SLC22A12
    SLC22A20    SLC22A24    SLC22A7

    SLC22A1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/850 NCBI SNPs in SLC22A1 are shown (see all 850    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs27773531,2
    C--158017104(+) CCACTC/TGGGGG 1 -- int10--------
    rs1115249181,2
    C--158017295(+) TCCTGA/GCTTTT 1 -- int10--------
    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(+) AGTGA-/TTTTTT 2 -- us2k10--------
    rs1867656561,2
    --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
    --160541549(+) gagatT/Agttat 2 -- us2k1 tfbs32Minor allele frequency- A:0.12NA WA 120

    HapMap Linkage Disequilibrium report for SLC22A1 (160542821 - 160579750 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 8 variations for SLC22A1
         6 CNVs: 7541 69638 8530 3648 9552 2661
         2 Indels: 34349 28142
    Human Gene Mutation Database (HGMD): SLC22A1

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    (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.)
    About This Section

    SLC22A1 for disorders           About GeneDecksing

    OMIM gene information: 602607    OMIM disorders: --

    20/21 diseases for SLC22A1 (see all 21):    About MalaCards
    polycystic ovary syndrome    myeloid leukemia    chronic myeloid leukemia    diabetes mellitus
    hepatitis c    cholestasis    nephropathy    breast cancer
    hepatocellular carcinoma    leukemia    choroiditis    lung cancer
    hepatitis    fibrosis    cholesterol    tuberculosis
    immunodeficiency    carcinoma    neuronitis    mycobacterium tuberculosis

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

    4 Novoseek 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)
    About This Section

    PubMed articles for SLC22A1 gene, integrated from 9 sources (see all 224):
    (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. (1997)
    2. 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. (2004)
    3. 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. (1998)
    4. Regulation of the human organic cation transporter hOCT1. (PubMed id 15389554)1, 2, 9 Ciarimboli G....Hirsch J.R. (2004)
    5. Evolutionary conservation predicts function of variants of the human organic cation transporter, OCT1. (PubMed id 12719534)1, 2, 9 Shu Y.... Giacomini K.M. (2003)
    6. 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. (1999)
    7. 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. (2001)
    8. The effects of genetic polymorphisms in the organic c ation transporters OCT1, OCT2, and OCT3 on the renal clearance of metformin. (PubMed id 19536068)1, 7, 9 Tzvetkov M.V....BrockmAPller J. (2009)
    9. The expression of the solute carriers NTCP and OCT-1 is regulated by cholesterol in HepG2 cells. (PubMed id 17635184)1, 2, 9 Dias V. and Ribeiro V. (2007)
    10. Cloning and characterization of two human polyspecific organic cation transporters. (PubMed id 9260930)1, 2, 9 Gorboulev V.... Koepsell H. (1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 6580 HGNC: 10963 AceView: SLC22A1 Ensembl:ENSG00000175003 euGenes: HUgn6580
    ECgene: SLC22A1 Kegg: 6580 H-InvDB: SLC22A1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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