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Q9Z0E8

- S22A5_MOUSE

UniProt

Q9Z0E8 - S22A5_MOUSE

Protein

Solute carrier family 22 member 5

Gene

Slc22a5

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 115 (01 Oct 2014)
      Sequence version 1 (01 May 1999)
      Previous versions | rss
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    Functioni

    Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to TEA is 11.3.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi218 – 2258ATPSequence Analysis

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. carnitine transmembrane transporter activity Source: MGI
    3. quaternary ammonium group transmembrane transporter activity Source: MGI
    4. symporter activity Source: UniProtKB-KW

    GO - Biological processi

    1. adult heart development Source: MGI
    2. carnitine metabolic process Source: MGI
    3. carnitine transmembrane transport Source: GOC
    4. carnitine transport Source: MGI
    5. locomotory behavior Source: MGI
    6. mitochondrion organization Source: MGI
    7. quaternary ammonium group transport Source: MGI
    8. reproductive structure development Source: MGI
    9. sodium ion transport Source: UniProtKB-KW

    Keywords - Biological processi

    Ion transport, Sodium transport, Symport, Transport

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding, Sodium

    Enzyme and pathway databases

    ReactomeiREACT_198610. Organic cation transport.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Solute carrier family 22 member 5
    Alternative name(s):
    High-affinity sodium-dependent carnitine cotransporter
    Organic cation/carnitine transporter 2
    Gene namesi
    Name:Slc22a5
    Synonyms:Octn2
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 11

    Organism-specific databases

    MGIiMGI:1329012. Slc22a5.

    Subcellular locationi

    Apical cell membrane 1 Publication; Multi-pass membrane protein 1 Publication
    Note: Colocalizes with PDZK1 on apical membranes of kidney proximal tubules.

    GO - Cellular componenti

    1. apical plasma membrane Source: UniProtKB-SubCell
    2. brush border membrane Source: BHF-UCL
    3. integral component of membrane Source: UniProtKB-KW
    4. membrane Source: MGI

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Defects in Slc22a5 are the cause of the juvenile visceral steatosis (JVS) phenotype. JVS is an autosomal recessive animal model of systemic carnitine deficiency.

    Keywords - Diseasei

    Disease mutation

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 557557Solute carrier family 22 member 5PRO_0000220501Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi57 – 571N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi64 – 641N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi91 – 911N-linked (GlcNAc...)Sequence Analysis
    Modified residuei486 – 4861PhosphotyrosineBy similarity
    Modified residuei550 – 5501Phosphothreonine1 Publication

    Keywords - PTMi

    Glycoprotein, Phosphoprotein

    Proteomic databases

    PaxDbiQ9Z0E8.
    PRIDEiQ9Z0E8.

    PTM databases

    PhosphoSiteiQ9Z0E8.

    Expressioni

    Tissue specificityi

    Widely expressed. Expressed in kidney, liver and testis.1 Publication

    Gene expression databases

    ArrayExpressiQ9Z0E8.
    BgeeiQ9Z0E8.
    GenevestigatoriQ9Z0E8.

    Interactioni

    Subunit structurei

    Interacts with PDZK1.1 Publication

    Protein-protein interaction databases

    STRINGi10090.ENSMUSP00000019044.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Z0E8.
    SMRiQ9Z0E8. Positions 144-514.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2020CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini42 – 142101ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini164 – 1729CytoplasmicSequence Analysis
    Topological domaini194 – 1974ExtracellularSequence Analysis
    Topological domaini219 – 23214CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini254 – 2574ExtracellularSequence Analysis
    Topological domaini279 – 34163CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini363 – 37311ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini395 – 40612CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini428 – 4303ExtracellularSequence Analysis
    Topological domaini452 – 46211CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini484 – 4885ExtracellularSequence Analysis
    Topological domaini510 – 55748CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei21 – 4121Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei143 – 16321Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei173 – 19321Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei198 – 21821Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei233 – 25321Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei258 – 27821Helical; Name=6Sequence AnalysisAdd
    BLAST
    Transmembranei342 – 36221Helical; Name=7Sequence AnalysisAdd
    BLAST
    Transmembranei374 – 39421Helical; Name=8Sequence AnalysisAdd
    BLAST
    Transmembranei407 – 42721Helical; Name=9Sequence AnalysisAdd
    BLAST
    Transmembranei431 – 45121Helical; Name=10Sequence AnalysisAdd
    BLAST
    Transmembranei463 – 48321Helical; Name=11Sequence AnalysisAdd
    BLAST
    Transmembranei489 – 50921Helical; Name=12Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0477.
    GeneTreeiENSGT00750000117473.
    HOGENOMiHOG000234570.
    HOVERGENiHBG061545.
    InParanoidiQ9Z0E8.
    KOiK08202.
    OMAiQMQSFPG.
    OrthoDBiEOG7C8GH9.
    PhylomeDBiQ9Z0E8.
    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]

    Sequencei

    Sequence statusi: Complete.

    Q9Z0E8-1 [UniParc]FASTAAdd to Basket

    « Hide

    MRDYDEVTAF LGEWGPFQRL IFFLLSASII PNGFNGMSIV FLAGTPEHRC    50
    LVPHTVNLSS AWRNHSIPLE TKDGRQVPQK CRRYRLATIA NFSELGLEPG 100
    RDVDLEQLEQ ESCLDGWEYD KDVFLSTIVT EWDLVCKDDW KAPLTTSLFF 150
    VGVLMGSFIS GQLSDRFGRK NVLFLTMGMQ TGFSFLQVFS VNFEMFTVLF 200
    VLVGMGQISN YVAAFVLGTE ILSKSIRIIF ATLGVCIFYA FGFMVLPLFA 250
    YFIRDWRMLL LALTVPGVLC GALWWFIPES PRWLISQGRI KEAEVIIRKA 300
    AKINGIVAPS TIFDPSELQD LNSTKPQLHH IYDLIRTRNI RVITIMSIIL 350
    WLTISVGYFG LSLDTPNLHG DIYVNCFLLA AVEVPAYVLA WLLLQYLPRR 400
    YSISAALFLG GSVLLFMQLV PSELFYLSTA LVMVGKFGIT SAYSMVYVYT 450
    AELYPTVVRN MGVGVSSTAS RLGSILSPYF VYLGAYDRFL PYILMGSLTI 500
    LTAILTLFFP ESFGVPLPDT IDQMLRVKGI KQWQIQSQTR MQKDGEESPT 550
    VLKSTAF 557
    Length:557
    Mass (Da):62,780
    Last modified:May 1, 1999 - v1
    Checksum:i6093F0EE9612B204
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti352 – 3521L → R in JVS. 1 Publication

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB015800 mRNA. Translation: BAA36590.1.
    AF111425 mRNA. Translation: AAC99787.1.
    AF110417 mRNA. Translation: AAD54060.1.
    BC031118 mRNA. Translation: AAH31118.1.
    CCDSiCCDS24687.1.
    RefSeqiNP_035526.1. NM_011396.3.
    UniGeneiMm.42253.

    Genome annotation databases

    EnsembliENSMUST00000019044; ENSMUSP00000019044; ENSMUSG00000018900.
    GeneIDi20520.
    KEGGimmu:20520.
    UCSCiuc007ixc.2. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB015800 mRNA. Translation: BAA36590.1 .
    AF111425 mRNA. Translation: AAC99787.1 .
    AF110417 mRNA. Translation: AAD54060.1 .
    BC031118 mRNA. Translation: AAH31118.1 .
    CCDSi CCDS24687.1.
    RefSeqi NP_035526.1. NM_011396.3.
    UniGenei Mm.42253.

    3D structure databases

    ProteinModelPortali Q9Z0E8.
    SMRi Q9Z0E8. Positions 144-514.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 10090.ENSMUSP00000019044.

    Chemistry

    ChEMBLi CHEMBL2073665.

    PTM databases

    PhosphoSitei Q9Z0E8.

    Proteomic databases

    PaxDbi Q9Z0E8.
    PRIDEi Q9Z0E8.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000019044 ; ENSMUSP00000019044 ; ENSMUSG00000018900 .
    GeneIDi 20520.
    KEGGi mmu:20520.
    UCSCi uc007ixc.2. mouse.

    Organism-specific databases

    CTDi 6584.
    MGIi MGI:1329012. Slc22a5.

    Phylogenomic databases

    eggNOGi COG0477.
    GeneTreei ENSGT00750000117473.
    HOGENOMi HOG000234570.
    HOVERGENi HBG061545.
    InParanoidi Q9Z0E8.
    KOi K08202.
    OMAi QMQSFPG.
    OrthoDBi EOG7C8GH9.
    PhylomeDBi Q9Z0E8.
    TreeFami TF315847.

    Enzyme and pathway databases

    Reactomei REACT_198610. Organic cation transport.

    Miscellaneous databases

    NextBioi 298743.
    PROi Q9Z0E8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Z0E8.
    Bgeei Q9Z0E8.
    Genevestigatori Q9Z0E8.

    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. "Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter."
      Nezu J., Tamai I., Oku A., Ohashi R., Yabuuchi H., Hashimoto N., Nikaido H., Sai Y., Koizumi A., Shoji Y., Takada G., Matsuishi T., Yashino M., Kato H., Ohura T., Tsujimoto G., Hayakawa J., Shimane M., Tsuji A.
      Nat. Genet. 21:91-94(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Strain: C57BL/6J.
      Tissue: Kidney.
    2. "A missense mutation of mouse OCTN2, a sodium-dependent carnitine cotransporter, in the juvenile visceral steatosis mouse."
      Lu K., Nishimori H., Nakamura Y., Shima K., Kuwajima M.
      Biochem. Biophys. Res. Commun. 252:590-594(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT JVS ARG-352.
      Strain: C3H.
    3. "Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporter."
      Wu X., Huang W., Prasad P.D., Seth P., Rajan D.P., Leibach F.H., Chen J., Conway S.J., Ganapathy V.
      J. Pharmacol. Exp. Ther. 290:1482-1492(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], CHARACTERIZATION.
    4. "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].
      Strain: FVB/N.
      Tissue: Colon.
    5. "Molecular and functional characterization of organic cation/carnitine transporter family in mice."
      Tamai I., Ohashi R., Nezu J., Sai Y., Kobayashi D., Oku A., Shimane M., Tsuji A.
      J. Biol. Chem. 275:40064-40072(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    6. "PDZK1 directly regulates the function of organic cation/carnitine transporter OCTN2."
      Kato Y., Sai Y., Yoshida K., Watanabe C., Hirata T., Tsuji A.
      Mol. Pharmacol. 67:734-743(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, INTERACTION WITH PDZK1.
    7. "The phagosomal proteome in interferon-gamma-activated macrophages."
      Trost M., English L., Lemieux S., Courcelles M., Desjardins M., Thibault P.
      Immunity 30:143-154(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-550, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiS22A5_MOUSE
    AccessioniPrimary (citable) accession number: Q9Z0E8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: May 1, 1999
    Last modified: October 1, 2014
    This is version 115 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3