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Q96BI1

- S22AI_HUMAN

UniProt

Q96BI1 - S22AI_HUMAN

Protein

Solute carrier family 22 member 18

Gene

SLC22A18

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 110 (01 Oct 2014)
      Sequence version 3 (26 May 2009)
      Previous versions | rss
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    Functioni

    May act as a transporter of organic cations based on a proton efflux antiport mechanism. May play a role in the transport of chloroquine and quinidine-related compounds in kidney.1 Publication

    GO - Molecular functioni

    1. drug transmembrane transporter activity Source: UniProtKB
    2. symporter activity Source: UniProtKB-KW
    3. ubiquitin protein ligase binding Source: UniProtKB

    GO - Biological processi

    1. drug transmembrane transport Source: GOC
    2. drug transport Source: UniProtKB
    3. excretion Source: UniProtKB
    4. organic cation transport Source: UniProtKB
    5. transmembrane transport Source: Reactome

    Keywords - Biological processi

    Ion transport, Symport, Transport

    Enzyme and pathway databases

    ReactomeiREACT_22357. Organic cation transport.

    Protein family/group databases

    TCDBi2.A.1.2.53. the major facilitator superfamily (mfs).

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Solute carrier family 22 member 18
    Alternative name(s):
    Beckwith-Wiedemann syndrome chromosomal region 1 candidate gene A protein
    Efflux transporter-like protein
    Imprinted multi-membrane-spanning polyspecific transporter-related protein 1
    Organic cation transporter-like protein 2
    Short name:
    ORCTL-2
    Solute carrier family 22 member 1-like
    Tumor-suppressing STF cDNA 5 protein
    Tumor-suppressing subchromosomal transferable fragment candidate gene 5 protein
    p45-Beckwith-Wiedemann region 1 A
    Short name:
    p45-BWR1A
    Gene namesi
    Name:SLC22A18
    Synonyms:BWR1A, BWSCR1A, HET, IMPT1, ITM, ORCTL2, SLC22A1L, TSSC5
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:10964. SLC22A18.

    Subcellular locationi

    Apical cell membrane Curated; Multi-pass membrane protein Curated
    Note: Localized at the apical membrane surface of renal proximal tubules.1 Publication

    GO - Cellular componenti

    1. apical plasma membrane Source: UniProtKB
    2. cytoplasm Source: UniProtKB
    3. integral component of membrane Source: UniProtKB
    4. membrane Source: UniProtKB
    5. nuclear envelope Source: UniProtKB
    6. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Lung cancer (LNCR) [MIM:211980]: A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced stage and has a poor prognosis.1 Publication
    Note: The gene represented in this entry may be involved in disease pathogenesis.
    Rhabdomyosarcoma, embryonal, 1 (RMSE1) [MIM:268210]: A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas.
    Note: The disease may be caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi114480. phenotype.
    211980. phenotype.
    268210. phenotype.
    PharmGKBiPA35846.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 424424Solute carrier family 22 member 18PRO_0000220509Add
    BLAST

    Proteomic databases

    MaxQBiQ96BI1.
    PaxDbiQ96BI1.
    PRIDEiQ96BI1.

    PTM databases

    PhosphoSiteiQ96BI1.

    Expressioni

    Tissue specificityi

    Expressed at high levels in adult and fetal kidney and liver, and adult colon. Expressed in fetal renal proximal tubules (at protein level). Expressed at lower levels in heart, brain and lung.4 Publications

    Gene expression databases

    ArrayExpressiQ96BI1.
    BgeeiQ96BI1.
    CleanExiHS_SLC22A18.
    GenevestigatoriQ96BI1.

    Interactioni

    Subunit structurei

    Interacts with RNF167.1 Publication

    Protein-protein interaction databases

    BioGridi111044. 2 interactions.
    STRINGi9606.ENSP00000307859.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96BI1.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei26 – 4621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei59 – 7921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei90 – 11021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei156 – 17621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei184 – 20421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei243 – 26321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei276 – 29621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei312 – 33221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei334 – 35421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei391 – 41121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0477.
    HOVERGENiHBG082086.
    InParanoidiQ96BI1.
    KOiK08214.
    OMAiGLFMVMF.
    OrthoDBiEOG747PJ1.
    PhylomeDBiQ96BI1.
    TreeFamiTF352510.

    Family and domain databases

    InterProiIPR011701. MFS.
    IPR020846. MFS_dom.
    IPR016196. MFS_dom_general_subst_transpt.
    IPR001958. Tet-R_TetA/multi-R_MdtG.
    [Graphical view]
    PfamiPF07690. MFS_1. 1 hit.
    [Graphical view]
    PRINTSiPR01035. TCRTETA.
    SUPFAMiSSF103473. SSF103473. 1 hit.
    PROSITEiPS50850. MFS. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q96BI1-1 [UniParc]FASTAAdd to Basket

    « Hide

    MQGARAPRDQ GRSPGRMSAL GRSSVILLTY VLAATELTCL FMQFSIVPYL    50
    SRKLGLDSIA FGYLQTTFGV LQLLGGPVFG RFADQRGARA ALTLSFLAAL 100
    ALYLLLAAAS SPALPGVYLL FASRLPGALM HTLPAAQMVI TDLSAPEERP 150
    AALGRLGLCF GVGVILGSLL GGTLVSAYGI QCPAILAALA TLLGAVLSFT 200
    CIPASTKGAK TDAQAPLPGG PRASVFDLKA IASLLRLPDV PRIFLVKVAS 250
    NCPTGLFMVM FSIISMDFFQ LEAAQAGYLM SFFGLLQMVT QGLVIGQLSS 300
    HFSEEVLLRA SVLVFIVVGL AMAWMSSVFH FCLLVPGLVF SLCTLNVVTD 350
    SMLIKAVSTS DTGTMLGLCA SVQPLLRTLG PTVGGLLYRS FGVPVFGHVQ 400
    VAINTLVLLV LWRKPMPQRK DKVR 424
    Length:424
    Mass (Da):44,846
    Last modified:May 26, 2009 - v3
    Checksum:i9EFD5F902A77A6E8
    GO

    Sequence cautioni

    The sequence AAB82727.1 differs from that shown. Reason: Erroneous initiation.
    The sequence BAA32779.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti84 – 841D → N in AAC17492. (PubMed:9520460)Curated
    Sequence conflicti227 – 2271D → E in AAB82727. (PubMed:9499412)Curated
    Sequence conflicti227 – 2271D → E in AAC23505. 1 PublicationCurated
    Sequence conflicti230 – 2301A → G in AAB82727. (PubMed:9499412)Curated
    Sequence conflicti230 – 2301A → G in AAC23505. 1 PublicationCurated
    Sequence conflicti242 – 2421R → K in AAB82727. (PubMed:9499412)Curated
    Sequence conflicti242 – 2421R → K in AAC23505. 1 PublicationCurated
    Sequence conflicti275 – 2751Q → K in AAB82727. (PubMed:9499412)Curated
    Sequence conflicti275 – 2751Q → K in AAC23505. 1 PublicationCurated
    Sequence conflicti307 – 3071L → M in AAC04787. (PubMed:9570947)Curated
    Sequence conflicti309 – 3091R → G in AAB82727. (PubMed:9499412)Curated
    Sequence conflicti309 – 3091R → G in AAC23505. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti6 – 61A → T.1 Publication
    Corresponds to variant rs1048046 [ dbSNP | Ensembl ].
    VAR_055406
    Natural varianti12 – 121R → Q.4 Publications
    Corresponds to variant rs1048047 [ dbSNP | Ensembl ].
    VAR_055407
    Natural varianti86 – 861R → C in a rhabdomyosarcoma sample. 1 Publication
    VAR_024061
    Natural varianti233 – 2331S → F in lung cancer; somatic mutation. 1 Publication
    VAR_024062
    Natural varianti309 – 3091R → Q.1 Publication
    Corresponds to variant rs141165353 [ dbSNP | Ensembl ].
    VAR_024063
    Natural varianti324 – 3241W → C.
    Corresponds to variant rs1129782 [ dbSNP | Ensembl ].
    VAR_055408

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF059663 mRNA. Translation: AAC14725.1.
    AB012083 mRNA. Translation: BAA32779.1. Different initiation.
    AF037064 mRNA. Translation: AAC04787.1.
    AF028738 mRNA. Translation: AAB82727.1. Different initiation.
    AF030302 mRNA. Translation: AAC17492.1.
    AF070479 mRNA. Translation: AAC23505.1.
    BC015571 mRNA. Translation: AAH15571.1.
    CCDSiCCDS7740.1.
    RefSeqiNP_002546.3. NM_002555.5.
    NP_899056.2. NM_183233.2.
    XP_006718306.1. XM_006718243.1.
    UniGeneiHs.50868.

    Genome annotation databases

    EnsembliENST00000312221; ENSP00000311139; ENSG00000110628.
    ENST00000347936; ENSP00000307859; ENSG00000110628.
    ENST00000380574; ENSP00000369948; ENSG00000110628.
    GeneIDi5002.
    KEGGihsa:5002.
    UCSCiuc001lwx.3. human.

    Polymorphism databases

    DMDMi238054368.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF059663 mRNA. Translation: AAC14725.1 .
    AB012083 mRNA. Translation: BAA32779.1 . Different initiation.
    AF037064 mRNA. Translation: AAC04787.1 .
    AF028738 mRNA. Translation: AAB82727.1 . Different initiation.
    AF030302 mRNA. Translation: AAC17492.1 .
    AF070479 mRNA. Translation: AAC23505.1 .
    BC015571 mRNA. Translation: AAH15571.1 .
    CCDSi CCDS7740.1.
    RefSeqi NP_002546.3. NM_002555.5.
    NP_899056.2. NM_183233.2.
    XP_006718306.1. XM_006718243.1.
    UniGenei Hs.50868.

    3D structure databases

    ProteinModelPortali Q96BI1.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111044. 2 interactions.
    STRINGi 9606.ENSP00000307859.

    Protein family/group databases

    TCDBi 2.A.1.2.53. the major facilitator superfamily (mfs).

    PTM databases

    PhosphoSitei Q96BI1.

    Polymorphism databases

    DMDMi 238054368.

    Proteomic databases

    MaxQBi Q96BI1.
    PaxDbi Q96BI1.
    PRIDEi Q96BI1.

    Protocols and materials databases

    DNASUi 5002.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000312221 ; ENSP00000311139 ; ENSG00000110628 .
    ENST00000347936 ; ENSP00000307859 ; ENSG00000110628 .
    ENST00000380574 ; ENSP00000369948 ; ENSG00000110628 .
    GeneIDi 5002.
    KEGGi hsa:5002.
    UCSCi uc001lwx.3. human.

    Organism-specific databases

    CTDi 5002.
    GeneCardsi GC11P002877.
    H-InvDB HIX0019391.
    HGNCi HGNC:10964. SLC22A18.
    MIMi 114480. phenotype.
    211980. phenotype.
    268210. phenotype.
    602631. gene.
    neXtProti NX_Q96BI1.
    PharmGKBi PA35846.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0477.
    HOVERGENi HBG082086.
    InParanoidi Q96BI1.
    KOi K08214.
    OMAi GLFMVMF.
    OrthoDBi EOG747PJ1.
    PhylomeDBi Q96BI1.
    TreeFami TF352510.

    Enzyme and pathway databases

    Reactomei REACT_22357. Organic cation transport.

    Miscellaneous databases

    GeneWikii SLC22A18.
    GenomeRNAii 5002.
    NextBioi 19262.
    PROi Q96BI1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96BI1.
    Bgeei Q96BI1.
    CleanExi HS_SLC22A18.
    Genevestigatori Q96BI1.

    Family and domain databases

    InterProi IPR011701. MFS.
    IPR020846. MFS_dom.
    IPR016196. MFS_dom_general_subst_transpt.
    IPR001958. Tet-R_TetA/multi-R_MdtG.
    [Graphical view ]
    Pfami PF07690. MFS_1. 1 hit.
    [Graphical view ]
    PRINTSi PR01035. TCRTETA.
    SUPFAMi SSF103473. SSF103473. 1 hit.
    PROSITEi PS50850. MFS. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Somatic mutation of TSSC5, a novel imprinted gene from human chromosome 11p15.5."
      Lee M.P., Reeves C., Schmitt A., Su K., Connors T.D., Hu R.J., Brandenburg S., Lee M.J., Miller G., Feinberg A.P.
      Cancer Res. 58:4155-4159(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT GLN-309, VARIANT LUNG CANCER PHE-233.
    2. "A novel gene, ITM, located between p57KIP2 and IPL, is imprinted in mice."
      Morisaki H., Hatada I., Morisaki T., Mukai T.
      DNA Res. 5:235-240(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. "Divergently transcribed overlapping genes expressed in liver and kidney and located in the 11p15.5 imprinted domain."
      Cooper P.R., Smilinich N.J., Day C.D., Nowak N.J., Reid L.H., Pearsall R.S., Reece M., Prawitt D., Landers J., Housman D.E., Winterpacht A., Zabel B.U., Pelletier J., Weissman B.E., Shows T.B., Higgins M.J.
      Genomics 49:38-51(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANT GLN-12.
    4. "IMPT1, an imprinted gene similar to polyspecific transporter and multi-drug resistance genes."
      Dao D., Frank D., Qian N., O'Keefe D., Vosatka R.J., Walsh C.P., Tycko B.
      Hum. Mol. Genet. 7:597-608(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
      Tissue: Placenta.
    5. "Transcriptional map of 170-kb region at chromosome 11p15.5: identification and mutational analysis of the BWR1A gene reveals the presence of mutations in tumor samples."
      Schwienbacher C., Sabbioni S., Campi M., Veronese A., Bernardi G., Menegatti A., Hatada I., Mukai T., Ohashi H., Barbanti-Brodano G., Croce C.M., Negrini M.
      Proc. Natl. Acad. Sci. U.S.A. 95:3873-3878(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS THR-6 AND GLN-12; CYS-86, TISSUE SPECIFICITY.
    6. "Monoallelic expression of the gene encoding a human efflux transporter like protein (HET), on chromosome 11p15.5."
      Chen P., Shen W., Karnik P.
      Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT GLN-12.
    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], VARIANT GLN-12.
      Tissue: Placenta.
    8. "Functional characterization of ORCTL2 -- an organic cation transporter expressed in the renal proximal tubules."
      Reece M., Prawitt D., Landers J., Kast C., Gros P., Housman D., Zabel B.U., Pelletier J.
      FEBS Lett. 433:245-250(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    9. "Tumor suppressor candidate TSSC5 is regulated by UbcH6 and a novel ubiquitin ligase RING105."
      Yamada H.Y., Gorbsky G.J.
      Oncogene 25:1330-1339(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH RNF167.

    Entry informationi

    Entry nameiS22AI_HUMAN
    AccessioniPrimary (citable) accession number: Q96BI1
    Secondary accession number(s): O14906
    , O43562, O60485, O60680, Q7LDS5, Q7LGF7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 6, 2005
    Last sequence update: May 26, 2009
    Last modified: October 1, 2014
    This is version 110 of the entry and version 3 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

    Caution

    It is uncertain whether Met-1 or Met-17 is the initiator.Curated

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: 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