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Q9Z0E8

- S22A5_MOUSE

UniProt

Q9Z0E8 - S22A5_MOUSE

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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

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
Complete GO annotation...

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. brush border membrane Source: BHF-UCL
  2. integral component of membrane Source: UniProtKB-KW
  3. membrane Source: MGI
Complete GO annotation...

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

BgeeiQ9Z0E8.
ExpressionAtlasiQ9Z0E8. baseline and differential.
GenevestigatoriQ9Z0E8.

Interactioni

Subunit structurei

Interacts with PDZK1.1 Publication

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000019044.

Structurei

3D structure databases

ProteinModelPortaliQ9Z0E8.
SMRiQ9Z0E8. Positions 150-299.
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.
GeneTreeiENSGT00760000118852.
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

        10         20         30         40         50
MRDYDEVTAF LGEWGPFQRL IFFLLSASII PNGFNGMSIV FLAGTPEHRC
60 70 80 90 100
LVPHTVNLSS AWRNHSIPLE TKDGRQVPQK CRRYRLATIA NFSELGLEPG
110 120 130 140 150
RDVDLEQLEQ ESCLDGWEYD KDVFLSTIVT EWDLVCKDDW KAPLTTSLFF
160 170 180 190 200
VGVLMGSFIS GQLSDRFGRK NVLFLTMGMQ TGFSFLQVFS VNFEMFTVLF
210 220 230 240 250
VLVGMGQISN YVAAFVLGTE ILSKSIRIIF ATLGVCIFYA FGFMVLPLFA
260 270 280 290 300
YFIRDWRMLL LALTVPGVLC GALWWFIPES PRWLISQGRI KEAEVIIRKA
310 320 330 340 350
AKINGIVAPS TIFDPSELQD LNSTKPQLHH IYDLIRTRNI RVITIMSIIL
360 370 380 390 400
WLTISVGYFG LSLDTPNLHG DIYVNCFLLA AVEVPAYVLA WLLLQYLPRR
410 420 430 440 450
YSISAALFLG GSVLLFMQLV PSELFYLSTA LVMVGKFGIT SAYSMVYVYT
460 470 480 490 500
AELYPTVVRN MGVGVSSTAS RLGSILSPYF VYLGAYDRFL PYILMGSLTI
510 520 530 540 550
LTAILTLFFP ESFGVPLPDT IDQMLRVKGI KQWQIQSQTR MQKDGEESPT

VLKSTAF
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 150-299.
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 ENSGT00760000118852.
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

Bgeei Q9Z0E8.
ExpressionAtlasi Q9Z0E8. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 116 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