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O15245

- S22A1_HUMAN

UniProt

O15245 - S22A1_HUMAN

Protein

Solute carrier family 22 member 1

Gene

SLC22A1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 124 (01 Oct 2014)
      Sequence version 2 (30 Nov 2010)
      Previous versions | rss
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    Functioni

    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.8 Publications

    Kineticsi

    1. KM=1.47 mM for metformin3 Publications
    2. KM=229 µM for TEA3 Publications
    3. KM=14.6 µM for MPP3 Publications

    Vmax=396 pmol/min/mg enzyme for metformin uptake3 Publications

    Vmax=2.89 nmol/min/mg enzyme for TEA uptake3 Publications

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei450 – 4501Involved in affinity and selectivity of cations as well as in translocationBy similarity

    GO - Molecular functioni

    1. acetylcholine transmembrane transporter activity Source: Ensembl
    2. dopamine transmembrane transporter activity Source: Ensembl
    3. norepinephrine transmembrane transporter activity Source: Ensembl
    4. organic cation transmembrane transporter activity Source: UniProtKB
    5. protein binding Source: IntAct
    6. quaternary ammonium group transmembrane transporter activity Source: Ensembl
    7. secondary active organic cation transmembrane transporter activity Source: Ensembl

    GO - Biological processi

    1. dopamine transport Source: Ensembl
    2. drug transmembrane transport Source: Reactome
    3. epinephrine transport Source: Ensembl
    4. establishment or maintenance of transmembrane electrochemical gradient Source: Ensembl
    5. norepinephrine transport Source: Ensembl
    6. organic cation transport Source: UniProtKB
    7. protein homooligomerization Source: Ensembl
    8. small molecule metabolic process Source: Reactome
    9. transmembrane transport Source: Reactome

    Keywords - Biological processi

    Ion transport, Transport

    Enzyme and pathway databases

    ReactomeiREACT_120801. Abacavir transmembrane transport.
    REACT_13583. Neurotransmitter Clearance In The Synaptic Cleft.
    REACT_15418. Norepinephrine Neurotransmitter Release Cycle.
    REACT_20506. Na+/Cl- dependent neurotransmitter transporters.
    REACT_22357. Organic cation transport.

    Protein family/group databases

    TCDBi2.A.1.19.29. the major facilitator superfamily (mfs).

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Solute carrier family 22 member 1
    Alternative name(s):
    Organic cation transporter 1
    Short name:
    hOCT1
    Gene namesi
    Name:SLC22A1
    Synonyms:OCT1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:10963. SLC22A1.

    Subcellular locationi

    Basolateral cell membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. basolateral plasma membrane Source: UniProtKB-SubCell
    2. integral component of plasma membrane Source: UniProtKB
    3. membrane Source: UniProtKB
    4. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi465 – 4651G → A: No changes in the MPP uptake. 1 Publication

    Organism-specific databases

    PharmGKBiPA329.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 554554Solute carrier family 22 member 1PRO_0000333875Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi71 – 711N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    Phosphorylated.By similarity

    Keywords - PTMi

    Glycoprotein, Phosphoprotein

    Proteomic databases

    PaxDbiO15245.
    PRIDEiO15245.

    PTM databases

    PhosphoSiteiO15245.

    Expressioni

    Tissue specificityi

    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.3 Publications

    Inductioni

    In the liver activated by HNF4A and suppressed by bile acids via NR0B2. Increased by cholesterol treatment in hepatocyte cells.2 Publications

    Gene expression databases

    ArrayExpressiO15245.
    BgeeiO15245.
    CleanExiHS_SLC22A1.
    GenevestigatoriO15245.

    Organism-specific databases

    HPAiHPA029846.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    CERS2Q96G233EBI-1172714,EBI-1057080

    Protein-protein interaction databases

    BioGridi112467. 1 interaction.
    IntActiO15245. 1 interaction.
    STRINGi9606.ENSP00000355930.

    Structurei

    3D structure databases

    ProteinModelPortaliO15245.
    SMRiO15245. Positions 153-518.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2121CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini43 – 149107ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini171 – 1766CytoplasmicSequence Analysis
    Topological domaini198 – 2069ExtracellularSequence Analysis
    Topological domaini230 – 2356CytoplasmicSequence Analysis
    Topological domaini257 – 2626ExtracellularSequence Analysis
    Topological domaini284 – 34764CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini369 – 3768ExtracellularSequence Analysis
    Topological domaini398 – 4025CytoplasmicSequence Analysis
    Topological domaini424 – 4318ExtracellularSequence Analysis
    Topological domaini453 – 46412CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini486 – 4927ExtracellularSequence Analysis
    Topological domaini514 – 55441CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei22 – 4221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei150 – 17021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei177 – 19721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei207 – 22923HelicalSequence AnalysisAdd
    BLAST
    Transmembranei236 – 25621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei263 – 28321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei348 – 36821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei377 – 39721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei403 – 42321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei432 – 45221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei465 – 48521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei493 – 51321HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0477.
    HOGENOMiHOG000234568.
    HOVERGENiHBG061545.
    InParanoidiO15245.
    KOiK08198.
    OMAiVCADSWK.
    OrthoDBiEOG78PV8N.
    PhylomeDBiO15245.
    TreeFamiTF315847.

    Family and domain databases

    InterProiIPR020846. MFS_dom.
    IPR016196. MFS_dom_general_subst_transpt.
    IPR004749. Orgcat_transp.
    IPR005828. Sub_transporter.
    IPR005829. Sugar_transporter_CS.
    [Graphical view]
    PfamiPF00083. Sugar_tr. 1 hit.
    [Graphical view]
    SUPFAMiSSF103473. SSF103473. 1 hit.
    TIGRFAMsiTIGR00898. 2A0119. 1 hit.
    PROSITEiPS50850. MFS. 1 hit.
    PS00216. SUGAR_TRANSPORT_1. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O15245-1) [UniParc]FASTAAdd to Basket

    Also known as: hOCT1G/L554

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MPTVDDILEQ VGESGWFQKQ AFLILCLLSA AFAPICVGIV FLGFTPDHHC    50
    QSPGVAELSQ RCGWSPAEEL NYTVPGLGPA GEAFLGQCRR YEVDWNQSAL 100
    SCVDPLASLA TNRSHLPLGP CQDGWVYDTP GSSIVTEFNL VCADSWKLDL 150
    FQSCLNAGFL FGSLGVGYFA DRFGRKLCLL GTVLVNAVSG VLMAFSPNYM 200
    SMLLFRLLQG LVSKGNWMAG YTLITEFVGS GSRRTVAIMY QMAFTVGLVA 250
    LTGLAYALPH WRWLQLAVSL PTFLFLLYYW CVPESPRWLL SQKRNTEAIK 300
    IMDHIAQKNG KLPPADLKML SLEEDVTEKL SPSFADLFRT PRLRKRTFIL 350
    MYLWFTDSVL YQGLILHMGA TSGNLYLDFL YSALVEIPGA FIALITIDRV 400
    GRIYPMAMSN LLAGAACLVM IFISPDLHWL NIIIMCVGRM GITIAIQMIC 450
    LVNAELYPTF VRNLGVMVCS SLCDIGGIIT PFIVFRLREV WQALPLILFA 500
    VLGLLAAGVT LLLPETKGVA LPETMKDAEN LGRKAKPKEN TIYLKVQTSE 550
    PSGT 554
    Length:554
    Mass (Da):61,154
    Last modified:November 30, 2010 - v2
    Checksum:i55206B897DE32202
    GO
    Isoform 2 (identifier: O15245-2) [UniParc]FASTAAdd to Basket

    Also known as: hOCT1G/L506

    The sequence of this isoform differs from the canonical sequence as follows:
         462-506: RNLGVMVCSS...ILFAVLGLLA → SGVGPACRGS...SKAQRKHDLP
         507-554: Missing.

    Show »
    Length:506
    Mass (Da):56,094
    Checksum:iFDD376F7F8547B5D
    GO
    Isoform 3 (identifier: O15245-3) [UniParc]FASTAAdd to Basket

    Also known as: hOCT1G483

    The sequence of this isoform differs from the canonical sequence as follows:
         462-532: Missing.

    Show »
    Length:483
    Mass (Da):53,593
    Checksum:i843CF89CFB1D9827
    GO
    Isoform 4 (identifier: O15245-4) [UniParc]FASTAAdd to Basket

    Also known as: hOCT1G353

    The sequence of this isoform differs from the canonical sequence as follows:
         354-554: Missing.

    Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Show »
    Length:353
    Mass (Da):39,224
    Checksum:i88073B911A5E5633
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti14 – 141S → F Exclusively found in the African American population; increase of the MPP uptake; when associated with V-408. 1 Publication
    Corresponds to variant rs34447885 [ dbSNP | Ensembl ].
    VAR_043319
    Natural varianti41 – 411F → L.1 Publication
    Corresponds to variant rs2297373 [ dbSNP | Ensembl ].
    VAR_043320
    Natural varianti61 – 611R → C Reduction of the MPP uptake. Reduction of the MPP uptake; when associated with V-408. 2 Publications
    Corresponds to variant rs12208357 [ dbSNP | Ensembl ].
    VAR_043321
    Natural varianti85 – 851L → F No changes in the MPP uptake; when associated with V-408. 1 Publication
    Corresponds to variant rs35546288 [ dbSNP | Ensembl ].
    VAR_043322
    Natural varianti88 – 881C → R.1 Publication
    Corresponds to variant rs55918055 [ dbSNP | Ensembl ].
    VAR_043323
    Natural varianti160 – 1601L → F No changes in both TEA and MPP uptake. No MPP uptake; when associated with S-401. Largely localized in the plasma membrane. 7 Publications
    Corresponds to variant rs683369 [ dbSNP | Ensembl ].
    VAR_043324
    Natural varianti189 – 1891S → L No changes in the MPP uptake. No changes in the MPP uptake; when associated with V-408. 1 Publication
    Corresponds to variant rs34104736 [ dbSNP | Ensembl ].
    VAR_043325
    Natural varianti220 – 2201G → V No MPP uptake. Reduction of the MPP uptake; when associated with V-408. 1 Publication
    Corresponds to variant rs36103319 [ dbSNP | Ensembl ].
    VAR_043326
    Natural varianti283 – 2831P → L.1 Publication
    Corresponds to variant rs4646277 [ dbSNP | Ensembl ].
    VAR_043327
    Natural varianti287 – 2871R → G.1 Publication
    Corresponds to variant rs4646278 [ dbSNP | Ensembl ].
    VAR_043328
    Natural varianti341 – 3411P → L Reduction of the MPP uptake. Reduction of the MPP uptake; when associated with V-408. Partly reduction of TEA uptake. Largely localized in the plasma membrane. 3 Publications
    Corresponds to variant rs2282143 [ dbSNP | Ensembl ].
    VAR_043329
    Natural varianti342 – 3421R → H No changes in the MPP uptake; when associated with V-408. 1 Publication
    Corresponds to variant rs34205214 [ dbSNP | Ensembl ].
    VAR_043330
    Natural varianti401 – 4011G → S No MPP uptake. Reduction of the serotonin uptake. No MPP uptake; when associated with L-160. 2 Publications
    Corresponds to variant rs34130495 [ dbSNP | Ensembl ].
    VAR_043331
    Natural varianti408 – 4081M → V No changes in the MPP uptake. No changes in the MPP uptake; when associated with F-14. No changes in the MPP uptake; when associated with F-85. No changes in the MPP uptake; when associated with L-189. No changes in the MPP uptake; when associated with His-342. No changes in the MPP uptake; when associated with M-420 del. No changes in the MPP uptake; when associated with I-440. No changes in the MPP uptake; when associated with I-461. No changes in the MPP uptake; when associated with M-488. Reduction of the MPP uptake; when associated with C-61. No MPP uptake; when associated with V-220. Reduction of the MPP uptake; when associated with L-341. No MPP uptake; when associated with S-401. No MPP uptake; when associated with R-465. 3 Publications
    Corresponds to variant rs628031 [ dbSNP | Ensembl ].
    VAR_043332
    Natural varianti420 – 4201Missing No changes in the MPP uptake. No changes in the MPP uptake; when associated with V-408. 3 Publications
    VAR_043333
    Natural varianti440 – 4401M → I.1 Publication
    Corresponds to variant rs35956182 [ dbSNP | Ensembl ].
    VAR_043334
    Natural varianti461 – 4611V → I No changes in the MPP uptake; when associated with V-408. 1 Publication
    Corresponds to variant rs34295611 [ dbSNP | Ensembl ].
    VAR_043335
    Natural varianti465 – 4651G → R Reduction of the localization to the basolateral membrane. No MPP uptake; when associated with V-408. 2 Publications
    Corresponds to variant rs34059508 [ dbSNP | Ensembl ].
    VAR_043336
    Natural varianti488 – 4881R → M No changes in the MPP uptake; when associated with V-408. 1 Publication
    Corresponds to variant rs35270274 [ dbSNP | Ensembl ].
    VAR_043337

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei354 – 554201Missing in isoform 4. CuratedVSP_033587Add
    BLAST
    Alternative sequencei462 – 53271Missing in isoform 3. CuratedVSP_033588Add
    BLAST
    Alternative sequencei462 – 50645RNLGV…LGLLA → SGVGPACRGSDATSSRDQGG RFARDHEGRREPWEKSKAQR KHDLP in isoform 2. CuratedVSP_033589Add
    BLAST
    Alternative sequencei507 – 55448Missing in isoform 2. CuratedVSP_033590Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X98332 mRNA. Translation: CAA66977.1.
    U77086 mRNA. Translation: AAB67703.1.
    AJ243995
    , AJ243996, AJ243998, AJ243999, AJ244000, AJ245460, AJ276051, AJ276052, AJ276053 Genomic DNA. Translation: CAB95971.1.
    AK289887 mRNA. Translation: BAF82576.1.
    AL353625 Genomic DNA. Translation: CAH72016.1.
    BC126364 mRNA. Translation: AAI26365.1.
    CCDSiCCDS5274.1. [O15245-1]
    CCDS5275.1. [O15245-2]
    RefSeqiNP_003048.1. NM_003057.2. [O15245-1]
    NP_694857.1. NM_153187.1. [O15245-2]
    XP_006715615.1. XM_006715552.1. [O15245-3]
    UniGeneiHs.117367.

    Genome annotation databases

    EnsembliENST00000324965; ENSP00000318103; ENSG00000175003. [O15245-2]
    ENST00000366963; ENSP00000355930; ENSG00000175003. [O15245-1]
    ENST00000457470; ENSP00000409557; ENSG00000175003. [O15245-3]
    ENST00000460902; ENSP00000439274; ENSG00000175003. [O15245-4]
    GeneIDi6580.
    KEGGihsa:6580.
    UCSCiuc003qtc.3. human. [O15245-1]
    uc003qtd.3. human. [O15245-2]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X98332 mRNA. Translation: CAA66977.1 .
    U77086 mRNA. Translation: AAB67703.1 .
    AJ243995
    , AJ243996 , AJ243998 , AJ243999 , AJ244000 , AJ245460 , AJ276051 , AJ276052 , AJ276053 Genomic DNA. Translation: CAB95971.1 .
    AK289887 mRNA. Translation: BAF82576.1 .
    AL353625 Genomic DNA. Translation: CAH72016.1 .
    BC126364 mRNA. Translation: AAI26365.1 .
    CCDSi CCDS5274.1. [O15245-1 ]
    CCDS5275.1. [O15245-2 ]
    RefSeqi NP_003048.1. NM_003057.2. [O15245-1 ]
    NP_694857.1. NM_153187.1. [O15245-2 ]
    XP_006715615.1. XM_006715552.1. [O15245-3 ]
    UniGenei Hs.117367.

    3D structure databases

    ProteinModelPortali O15245.
    SMRi O15245. Positions 153-518.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112467. 1 interaction.
    IntActi O15245. 1 interaction.
    STRINGi 9606.ENSP00000355930.

    Chemistry

    BindingDBi O15245.
    ChEMBLi CHEMBL5685.

    Protein family/group databases

    TCDBi 2.A.1.19.29. the major facilitator superfamily (mfs).

    PTM databases

    PhosphoSitei O15245.

    Proteomic databases

    PaxDbi O15245.
    PRIDEi O15245.

    Protocols and materials databases

    DNASUi 6580.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000324965 ; ENSP00000318103 ; ENSG00000175003 . [O15245-2 ]
    ENST00000366963 ; ENSP00000355930 ; ENSG00000175003 . [O15245-1 ]
    ENST00000457470 ; ENSP00000409557 ; ENSG00000175003 . [O15245-3 ]
    ENST00000460902 ; ENSP00000439274 ; ENSG00000175003 . [O15245-4 ]
    GeneIDi 6580.
    KEGGi hsa:6580.
    UCSCi uc003qtc.3. human. [O15245-1 ]
    uc003qtd.3. human. [O15245-2 ]

    Organism-specific databases

    CTDi 6580.
    GeneCardsi GC06P160542.
    HGNCi HGNC:10963. SLC22A1.
    HPAi HPA029846.
    MIMi 602607. gene.
    neXtProti NX_O15245.
    PharmGKBi PA329.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0477.
    HOGENOMi HOG000234568.
    HOVERGENi HBG061545.
    InParanoidi O15245.
    KOi K08198.
    OMAi VCADSWK.
    OrthoDBi EOG78PV8N.
    PhylomeDBi O15245.
    TreeFami TF315847.

    Enzyme and pathway databases

    Reactomei REACT_120801. Abacavir transmembrane transport.
    REACT_13583. Neurotransmitter Clearance In The Synaptic Cleft.
    REACT_15418. Norepinephrine Neurotransmitter Release Cycle.
    REACT_20506. Na+/Cl- dependent neurotransmitter transporters.
    REACT_22357. Organic cation transport.

    Miscellaneous databases

    GeneWikii SLC22A1.
    GenomeRNAii 6580.
    NextBioi 25603.
    PROi O15245.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O15245.
    Bgeei O15245.
    CleanExi HS_SLC22A1.
    Genevestigatori O15245.

    Family and domain databases

    InterProi IPR020846. MFS_dom.
    IPR016196. MFS_dom_general_subst_transpt.
    IPR004749. Orgcat_transp.
    IPR005828. Sub_transporter.
    IPR005829. Sugar_transporter_CS.
    [Graphical view ]
    Pfami PF00083. Sugar_tr. 1 hit.
    [Graphical view ]
    SUPFAMi SSF103473. SSF103473. 1 hit.
    TIGRFAMsi TIGR00898. 2A0119. 1 hit.
    PROSITEi PS50850. MFS. 1 hit.
    PS00216. SUGAR_TRANSPORT_1. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, VARIANT PHE-160.
      Tissue: Liver.
    2. "Cloning and functional expression of a human liver organic cation transporter."
      Zhang L., Dresser M.J., Gray A.T., Yost S.C., Terashita S., Giacomini K.M.
      Mol. Pharmacol. 51:913-921(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, BIOPHYSICOCHEMICAL PROPERTIES, TISSUE SPECIFICITY.
    3. "Molecular cloning, functional characterization and genomic organization of four alternatively spliced isoforms of the human organic cation transporter 1 (hOCT1/SLC22A1)."
      Hayer M., Boenisch H., Bruess M.
      Ann. Hum. Genet. 63:473-482(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, ALTERNATIVE SPLICING (ISOFORMS 1; 2; 3 AND 4).
    4. Erratum
      Hayer M., Bonisch H., Bruss M.
      Ann. Hum. Genet. 64:267-267(2000)
      Cited for: SEQUENCE REVISION.
    5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS PHE-160; VAL-408; MET-420 DEL AND ARG-465.
      Tissue: Caudate nucleus.
    6. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT PHE-160.
    8. "Functional characterization of an organic cation transporter (hOCT1) in a transiently transfected human cell line (HeLa)."
      Zhang L., Schaner M.E., Giacomini K.M.
      J. Pharmacol. Exp. Ther. 286:354-361(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, BIOPHYSICOCHEMICAL PROPERTIES.
    9. "Comparison of 'type I' and 'type II' organic cation transport by organic cation transporters and organic anion-transporting polypeptides."
      van Montfoort J.E., Mueller M., Groothuis G.M.M., Meijer D.K.F., Koepsell H., Meier P.J.
      J. Pharmacol. Exp. Ther. 298:110-115(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    10. Cited for: FUNCTION.
    11. "Drug specificity and intestinal membrane localization of human organic cation transporters (OCT)."
      Mueller J., Lips K.S., Metzner L., Neubert R.H.H., Koepsell H., Brandsch M.
      Biochem. Pharmacol. 70:1851-1860(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    12. "Metformin is a superior substrate for renal organic cation transporter OCT2 rather than hepatic OCT1."
      Kimura N., Masuda S., Tanihara Y., Ueo H., Okuda M., Katsura T., Inui K.
      Drug Metab. Pharmacokinet. 20:379-386(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, BIOPHYSICOCHEMICAL PROPERTIES.
    13. "The human organic cation transporter-1 gene is transactivated by hepatocyte nuclear factor-4alpha."
      Saborowski M., Kullak-Ublick G.A., Eloranta J.J.
      J. Pharmacol. Exp. Ther. 317:778-785(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INDUCTION.
    14. "Differential pharmacological in vitro properties of organic cation transporters and regional distribution in rat brain."
      Amphoux A., Vialou V., Drescher E., Bruess M., Mannoury La Cour C., Rochat C., Millan M.J., Giros B., Boenisch H., Gautron S.
      Neuropharmacology 50:941-952(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    15. "The expression of the solute carriers NTCP and OCT-1 is regulated by cholesterol in HepG2 cells."
      Dias V., Ribeiro V.
      Fundam. Clin. Pharmacol. 21:445-450(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: INDUCTION.
    16. "Identification of genetic variations of the human organic cation transporter hOCT1 and their functional consequences."
      Kerb R., Brinkmann U., Chatskaia N., Gorbunov D., Gorboulev V., Mornhinweg E., Keil A., Eichelbaum M., Koepsell H.
      Pharmacogenetics 12:591-595(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CYS-61; ARG-88; PHE-160; SER-401 AND MET-420 DEL, CHARACTERIZATION OF VARIANTS CYS-61; ARG-88; PHE-160; SER-401 AND MET-420 DEL.
    17. Cited for: VARIANTS PHE-14; CYS-61; PHE-85; PHE-160; LEU-189; VAL-220; LEU-341; HIS-342; SER-401; VAL-408; MET-420 DEL; ILE-440; ILE-461; ARG-465 AND MET-488, CHARACTERIZATION OF VARIANTS PHE-14; CYS-61; PHE-85; PHE-160; LEU-189; VAL-220; LEU-341; HIS-342; SER-401; VAL-408; MET-420 DEL; ILE-440; ILE-461; ARG-465 AND MET-488, MUTAGENESIS OF GLY-465.
    18. "Novel single nucleotide polymorphisms of organic cation transporter 1 (SLC22A1) affecting transport functions."
      Sakata T., Anzai N., Shin H.J., Noshiro R., Hirata T., Yokoyama H., Kanai Y., Endou H.
      Biochem. Biophys. Res. Commun. 313:789-793(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS PHE-160; LEU-283; GLY-287 AND LEU-341.
    19. "Seven novel single nucleotide polymorphisms in the human SLC22A1 gene encoding organic cation transporter 1 (OCT1)."
      Itoda M., Saito Y., Maekawa K., Hichiya H., Komamura K., Kamakura S., Kitakaze M., Tomoike H., Ueno K., Ozawa S., Sawada J.
      Drug Metab. Pharmacokinet. 19:308-312(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS LEU-41; PHE-160; LEU-341 AND VAL-408.

    Entry informationi

    Entry nameiS22A1_HUMAN
    AccessioniPrimary (citable) accession number: O15245
    Secondary accession number(s): A6NFF3
    , A8K1H2, C9JSU6, O15395, Q9NQD4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 20, 2008
    Last sequence update: November 30, 2010
    Last modified: October 1, 2014
    This is version 124 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 6
      Human chromosome 6: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3