Solute carrier family 22 member 5 - Mus musculus (Mouse)

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Q9Z0E8 (S22A5_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified May 29, 2013. Version 102. History...

Clusters with 100%, 90%, 50% identity |

Documents (2) |

Third-party data

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Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents Customize order

Names and origin

Protein names

Recommended name:
Solute carrier family 22 member 5

Alternative name(s):
High-affinity sodium-dependent carnitine cotransporter
Organic cation/carnitine transporter 2

Gene names

Name:	Slc22a5
Synonyms:	Octn2

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	557 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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.
Subunit structure	Interacts with PDZK1. Ref.6
Subcellular location	Apical cell membrane; Multi-pass membrane protein. Note: Colocalizes with PDZK1 on apical membranes of kidney proximal tubules. Ref.6
Tissue specificity	Widely expressed. Expressed in kidney, liver and testis. Ref.5
Involvement in disease	Defects in Slc22a5 are the cause of the juvenile visceral steatosis (JVS) phenotype. JVS is an autosomal recessive animal model of systemic carnitine deficiency. Ref.2
Sequence similarities	Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. [View classification]

Ontologies

Keywords
Biological process	Ion transport Sodium transport Symport Transport
Cellular component	Cell membrane Membrane
Disease	Disease mutation
Domain	Transmembrane Transmembrane helix
Ligand	ATP-binding Nucleotide-binding Sodium
PTM	Glycoprotein Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	adult heart development Inferred from mutant phenotype PubMed 9140816. Source: MGI carnitine metabolic process Inferred from mutant phenotype PubMed 15240869 PubMed 17027329 PubMed 1996978 PubMed 7914432 PubMed 8325377. Source: MGI locomotory behavior Inferred from mutant phenotype PubMed 17027329. Source: MGI mitochondrion organization Inferred from mutant phenotype PubMed 7773507. Source: MGI reproductive structure development Inferred from mutant phenotype PubMed 10100867. Source: MGI sodium ion transport Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	apical plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell brush border membrane Inferred from direct assay Ref.6. Source: BHF-UCL integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW carnitine transmembrane transporter activity Inferred from direct assay Ref.5. Source: MGI symporter activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 557

557

Solute carrier family 22 member 5

PRO_0000220501

Regions

Topological domain

1 – 20

Cytoplasmic Potential

Transmembrane

21 – 41

Helical; Name=1; Potential

Topological domain

42 – 142

101

Extracellular Potential

Transmembrane

143 – 163

Helical; Name=2; Potential

Topological domain

164 – 172

Cytoplasmic Potential

Transmembrane

173 – 193

Helical; Name=3; Potential

Topological domain

194 – 197

Extracellular Potential

Transmembrane

198 – 218

Helical; Name=4; Potential

Topological domain

219 – 232

Cytoplasmic Potential

Transmembrane

233 – 253

Helical; Name=5; Potential

Topological domain

254 – 257

Extracellular Potential

Transmembrane

258 – 278

Helical; Name=6; Potential

Topological domain

279 – 341

Cytoplasmic Potential

Transmembrane

342 – 362

Helical; Name=7; Potential

Topological domain

363 – 373

Extracellular Potential

Transmembrane

374 – 394

Helical; Name=8; Potential

Topological domain

395 – 406

Cytoplasmic Potential

Transmembrane

407 – 427

Helical; Name=9; Potential

Topological domain

428 – 430

Extracellular Potential

Transmembrane

431 – 451

Helical; Name=10; Potential

Topological domain

452 – 462

Cytoplasmic Potential

Transmembrane

463 – 483

Helical; Name=11; Potential

Topological domain

484 – 488

Extracellular Potential

Transmembrane

489 – 509

Helical; Name=12; Potential

Topological domain

510 – 557

Cytoplasmic Potential

Nucleotide binding

218 – 225

ATP Potential

Amino acid modifications

Modified residue

486

Phosphotyrosine By similarity

Glycosylation

N-linked (GlcNAc...) Potential

Glycosylation

N-linked (GlcNAc...) Potential

Glycosylation

N-linked (GlcNAc...) Potential

Natural variations

Natural variant

352

L → R in JVS. Ref.2

Sequences

Sequence

Length

Mass (Da)

Tools

Q9Z0E8 [UniParc].

Last modified May 1, 1999. Version 1.
Checksum: 6093F0EE9612B204
Show »

FASTA

557

62,780

        10         20         30         40         50         60 
MRDYDEVTAF LGEWGPFQRL IFFLLSASII PNGFNGMSIV FLAGTPEHRC LVPHTVNLSS 

        70         80         90        100        110        120 
AWRNHSIPLE TKDGRQVPQK CRRYRLATIA NFSELGLEPG RDVDLEQLEQ ESCLDGWEYD 

       130        140        150        160        170        180 
KDVFLSTIVT EWDLVCKDDW KAPLTTSLFF VGVLMGSFIS GQLSDRFGRK NVLFLTMGMQ 

       190        200        210        220        230        240 
TGFSFLQVFS VNFEMFTVLF VLVGMGQISN YVAAFVLGTE ILSKSIRIIF ATLGVCIFYA 

       250        260        270        280        290        300 
FGFMVLPLFA YFIRDWRMLL LALTVPGVLC GALWWFIPES PRWLISQGRI KEAEVIIRKA 

       310        320        330        340        350        360 
AKINGIVAPS TIFDPSELQD LNSTKPQLHH IYDLIRTRNI RVITIMSIIL WLTISVGYFG 

       370        380        390        400        410        420 
LSLDTPNLHG DIYVNCFLLA AVEVPAYVLA WLLLQYLPRR YSISAALFLG GSVLLFMQLV 

       430        440        450        460        470        480 
PSELFYLSTA LVMVGKFGIT SAYSMVYVYT AELYPTVVRN MGVGVSSTAS RLGSILSPYF 

       490        500        510        520        530        540 
VYLGAYDRFL PYILMGSLTI LTAILTLFFP ESFGVPLPDT IDQMLRVKGI KQWQIQSQTR 

       550 
MQKDGEESPT VLKSTAF

« Hide

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB015800 mRNA. Translation: BAA36590.1. AF111425 mRNA. Translation: AAC99787.1. AF110417 mRNA. Translation: AAD54060.1. BC031118 mRNA. Translation: AAH31118.1.
IPI	IPI00129041.
RefSeq	NP_035526.1. NM_011396.3.
UniGene	Mm.42253.
3D structure databases
ProteinModelPortal	Q9Z0E8.
SMR	Q9Z0E8. Positions 150-299.
ModBase	Search...
Protein-protein interaction databases
STRING	10090.ENSMUSP00000019044.
PTM databases
PhosphoSite	Q9Z0E8.
Proteomic databases
PaxDb	Q9Z0E8.
PRIDE	Q9Z0E8.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000019044; ENSMUSP00000019044; ENSMUSG00000018900.
GeneID	20520.
KEGG	mmu:20520.
UCSC	uc007ixc.2. mouse.
Organism-specific databases
CTD	6584.
MGI	MGI:1329012. Slc22a5.
Phylogenomic databases
eggNOG	COG0477.
GeneTree	ENSGT00680000099703.
HOGENOM	HOG000234570.
HOVERGEN	HBG061545.
InParanoid	Q9Z0E8.
KO	K08202.
OMA	IYLNCFL.
OrthoDB	EOG4WDDBH.
Gene expression databases
ArrayExpress	Q9Z0E8.
Bgee	Q9Z0E8.
Genevestigator	Q9Z0E8.
GermOnline	ENSMUSG00000018900. Mus musculus.
Family and domain databases
InterPro	IPR020846. MFS_dom. IPR016196. MFS_dom_general_subst_transpt. IPR004749. Orgcat_transp. IPR005828. Sub_transporter. IPR005829. Sugar_transporter_CS. [Graphical view]
Pfam	PF00083. Sugar_tr. 1 hit. [Graphical view]
SUPFAM	SSF103473. MFS_gen_substrate_transporter. 1 hit.
TIGRFAMs	TIGR00898. 2A0119. 1 hit.
PROSITE	PS50850. MFS. 1 hit. PS00216. SUGAR_TRANSPORT_1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	298743.
SOURCE	Search...

Entry information

Entry name

S22A5_MOUSE

Accession

Primary (citable) accession number: Q9Z0E8

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
Last sequence update:	May 1, 1999
Last modified:	May 29, 2013
This is version 102 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Relevant documents

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents

Preferred order of sections

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Sequence annotation (Features)

Molecule processing

Regions

Amino acid modifications

Natural variations

Sequences

References

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other

Entry information

Relevant documents