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Protein

Solute carrier family 22 member 5

Gene

SLC22A5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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 11.3.1 Publication

Miscellaneous

Inhibited by emetine, quinidine and verapamil. The IC50 of emetine is 4.2 µM. Not inhibited by valproic acid.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi218 – 225ATPSequence analysis8

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • carnitine transmembrane transporter activity Source: BHF-UCL
  • cation:cation antiporter activity Source: GO_Central
  • drug transmembrane transporter activity Source: BHF-UCL
  • organic anion transmembrane transporter activity Source: GO_Central
  • PDZ domain binding Source: BHF-UCL
  • quaternary ammonium group transmembrane transporter activity Source: BHF-UCL
  • symporter activity Source: UniProtKB-KW

GO - Biological processi

  • carnitine metabolic process Source: GO_Central
  • carnitine transmembrane transport Source: Reactome
  • carnitine transport Source: BHF-UCL
  • drug transport Source: BHF-UCL
  • positive regulation of intestinal epithelial structure maintenance Source: BHF-UCL
  • quaternary ammonium group transport Source: BHF-UCL
  • quorum sensing involved in interaction with host Source: BHF-UCL
  • sodium-dependent organic cation transport Source: BHF-UCL
  • sodium ion transport Source: UniProtKB-KW

Keywordsi

Biological processIon transport, Sodium transport, Symport, Transport
LigandATP-binding, Nucleotide-binding, Sodium

Enzyme and pathway databases

ReactomeiR-HSA-200425. Import of palmitoyl-CoA into the mitochondrial matrix.
R-HSA-549127. Organic cation transport.

Protein family/group databases

TCDBi2.A.1.19.3. the major facilitator superfamily (mfs).

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:10969. SLC22A5.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 20CytoplasmicSequence analysisAdd BLAST20
Transmembranei21 – 41Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini42 – 142ExtracellularSequence analysisAdd BLAST101
Transmembranei143 – 163Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini164 – 172CytoplasmicSequence analysis9
Transmembranei173 – 193Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini194 – 197ExtracellularSequence analysis4
Transmembranei198 – 218Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini219 – 232CytoplasmicSequence analysisAdd BLAST14
Transmembranei233 – 253Helical; Name=5Sequence analysisAdd BLAST21
Topological domaini254 – 257ExtracellularSequence analysis4
Transmembranei258 – 278Helical; Name=6Sequence analysisAdd BLAST21
Topological domaini279 – 341CytoplasmicSequence analysisAdd BLAST63
Transmembranei342 – 362Helical; Name=7Sequence analysisAdd BLAST21
Topological domaini363 – 373ExtracellularSequence analysisAdd BLAST11
Transmembranei374 – 394Helical; Name=8Sequence analysisAdd BLAST21
Topological domaini395 – 406CytoplasmicSequence analysisAdd BLAST12
Transmembranei407 – 427Helical; Name=9Sequence analysisAdd BLAST21
Topological domaini428 – 430ExtracellularSequence analysis3
Transmembranei431 – 451Helical; Name=10Sequence analysisAdd BLAST21
Topological domaini452 – 462CytoplasmicSequence analysisAdd BLAST11
Transmembranei463 – 483Helical; Name=11Sequence analysisAdd BLAST21
Topological domaini484 – 488ExtracellularSequence analysis5
Transmembranei489 – 509Helical; Name=12Sequence analysisAdd BLAST21

GO - Cellular componenti

  • apical plasma membrane Source: BHF-UCL
  • brush border membrane Source: BHF-UCL
  • extracellular exosome Source: UniProtKB
  • integral component of plasma membrane Source: GO_Central
  • plasma membrane Source: Reactome

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Systemic primary carnitine deficiency (CDSP)16 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. Present early in life with hypoketotic hypoglycemia and acute metabolic decompensation, or later in life with skeletal myopathy or cardiomyopathy.
See also OMIM:212140
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06410912G → S in CDSP. 1 PublicationCorresponds to variant dbSNP:rs139203363Ensembl.1
Natural variantiVAR_06411015G → W in CDSP. 3 PublicationsCorresponds to variant dbSNP:rs267607052Ensembl.1
Natural variantiVAR_02034717F → L in CDSP. 3 PublicationsCorresponds to variant dbSNP:rs11568520Ensembl.1
Natural variantiVAR_06411119R → P in CDSP; carnitine transport is reduced to less than 5% of normal. 3 PublicationsCorresponds to variant dbSNP:rs72552723Ensembl.1
Natural variantiVAR_06684222Missing in CDSP; reduces carnitine transport. 1 Publication1
Natural variantiVAR_06684326S → N in CDSP; reduces carnitine transport. 1 PublicationCorresponds to variant dbSNP:rs772578415Ensembl.1
Natural variantiVAR_06411232N → S in CDSP; reduces carnitine transport. 3 PublicationsCorresponds to variant dbSNP:rs72552725Ensembl.1
Natural variantiVAR_06411346P → S in CDSP; carnitine transport is reduced to less than 5% of normal. 4 PublicationsCorresponds to variant dbSNP:rs202088921Ensembl.1
Natural variantiVAR_06411466T → P Associated with CDSP; unclassified missense variant. 1 Publication1
Natural variantiVAR_06411575R → P Associated with CDSP; unclassified missense variant. 1 PublicationCorresponds to variant dbSNP:rs757711838Ensembl.1
Natural variantiVAR_06411683R → L in CDSP; reduces carnitine transport. 5 PublicationsCorresponds to variant dbSNP:rs72552726Ensembl.1
Natural variantiVAR_06411796G → A Associated with CDSP; unclassified missense variant. 1 PublicationCorresponds to variant dbSNP:rs377767450Ensembl.1
Natural variantiVAR_064118122D → Y in CDSP. 1 PublicationCorresponds to variant dbSNP:rs201082652Ensembl.1
Natural variantiVAR_064119123V → G Associated with CDSP; unclassified missense variant. 1 PublicationCorresponds to variant dbSNP:rs748605096Ensembl.1
Natural variantiVAR_064120142A → S in CDSP. 3 PublicationsCorresponds to variant dbSNP:rs151231558Ensembl.1
Natural variantiVAR_064121143P → L Associated with CDSP; unclassified missense variant. 2 Publications1
Natural variantiVAR_009252169R → Q in CDSP; reduces carnitine transport. 3 PublicationsCorresponds to variant dbSNP:rs121908889Ensembl.1
Natural variantiVAR_064122169R → W in CDSP; abolishes carnitine transport. 4 PublicationsCorresponds to variant dbSNP:rs121908890Ensembl.1
Natural variantiVAR_064123177M → V Associated with CDSP; unclassified missense variant. 1 PublicationCorresponds to variant dbSNP:rs145068530Ensembl.1
Natural variantiVAR_022564179M → L in CDSP. 1 PublicationCorresponds to variant dbSNP:rs386134196Ensembl.1
Natural variantiVAR_064124186L → P in CDSP. 1 PublicationCorresponds to variant dbSNP:rs386134197Ensembl.1
Natural variantiVAR_009253211Y → C in CDSP. 1 PublicationCorresponds to variant dbSNP:rs121908888Ensembl.1
Natural variantiVAR_064125214A → V in CDSP; reduces carnitine transport. 3 PublicationsCorresponds to variant dbSNP:rs386134199Ensembl.1
Natural variantiVAR_064126227R → H in CDSP. 1 PublicationCorresponds to variant dbSNP:rs185551386Ensembl.1
Natural variantiVAR_064127230F → L Associated with CDSP; unclassified missense variant. 1 PublicationCorresponds to variant dbSNP:rs756650860Ensembl.1
Natural variantiVAR_064128232T → M in CDSP; markedly reduced carnitine transport compared to the wild-type protein. 4 PublicationsCorresponds to variant dbSNP:rs114269482Ensembl.1
Natural variantiVAR_064129234G → R in CDSP. 1 Publication1
Natural variantiVAR_064130240A → T Associated with CDSP; unclassified missense variant. 1 Publication1
Natural variantiVAR_064131242G → V in CDSP; abolishes carnitine transport. 2 PublicationsCorresponds to variant dbSNP:rs72552728Ensembl.1
Natural variantiVAR_064132257R → W in CDSP. 1 PublicationCorresponds to variant dbSNP:rs386134203Ensembl.1
Natural variantiVAR_064133264T → R in CDSP. 1 PublicationCorresponds to variant dbSNP:rs201262157Ensembl.1
Natural variantiVAR_066844280S → F in CDSP; reduces carnitine transport. 1 PublicationCorresponds to variant dbSNP:rs386134208Ensembl.1
Natural variantiVAR_064134282R → Q in CDSP; reduces carnitine transport. 3 PublicationsCorresponds to variant dbSNP:rs386134210Ensembl.1
Natural variantiVAR_022565283W → C in CDSP; reduces L-carnitine uptake. 1 PublicationCorresponds to variant dbSNP:rs386134211Ensembl.1
Natural variantiVAR_009254283W → R in CDSP; reduces carnitine transport. 2 PublicationsCorresponds to variant dbSNP:rs72552729Ensembl.1
Natural variantiVAR_064135301A → D in CDSP; has 2-3% residual carnitine transport of the value measured in cells expressing the wild-type protein. 2 PublicationsCorresponds to variant dbSNP:rs72552730Ensembl.1
Natural variantiVAR_064136312I → V Associated with CDSP; unclassified missense variant. 1 PublicationCorresponds to variant dbSNP:rs77300588Ensembl.1
Natural variantiVAR_064137351W → R in CDSP; abolishes carnitine transport. 3 PublicationsCorresponds to variant dbSNP:rs68018207Ensembl.1
Natural variantiVAR_064138355S → L in CDSP. 1 Publication1
Natural variantiVAR_064139358Y → N Associated with CDSP; unclassified missense variant. 1 PublicationCorresponds to variant dbSNP:rs61731073Ensembl.1
Natural variantiVAR_064140362S → L in CDSP. 1 Publication1
Natural variantiVAR_064141398P → L in CDSP. 1 PublicationCorresponds to variant dbSNP:rs144547521Ensembl.1
Natural variantiVAR_064142399R → Q in CDSP; carnitine transport is reduced to less than 5% of normal. 2 PublicationsCorresponds to variant dbSNP:rs121908891Ensembl.1
Natural variantiVAR_064143399R → W in CDSP. 2 PublicationsCorresponds to variant dbSNP:rs267607054Ensembl.1
Natural variantiVAR_064144440T → M in CDSP; reduces carnitine transport. 2 PublicationsCorresponds to variant dbSNP:rs72552732Ensembl.1
Natural variantiVAR_064145442A → I in CDSP; requires 2 nucleotide substitutions; reduces carnitine transport. 3 PublicationsCorresponds to variant dbSNP:rs267607053Ensembl.1
Natural variantiVAR_064146443F → V in CDSP. 1 Publication1
Natural variantiVAR_009255446V → F in CDSP; reduces carnitine transport. 2 PublicationsCorresponds to variant dbSNP:rs72552733Ensembl.1
Natural variantiVAR_064147447Y → C in CDSP; reduces carnitine transport. 2 PublicationsCorresponds to variant dbSNP:rs386134218Ensembl.1
Natural variantiVAR_029315449Y → D in CDSP. 3 PublicationsCorresponds to variant dbSNP:rs11568514Ensembl.1
Natural variantiVAR_009256452E → K in CDSP. 3 PublicationsCorresponds to variant dbSNP:rs72552734Ensembl.1
Natural variantiVAR_064148455P → R in CDSP. 1 Publication1
Natural variantiVAR_022566467S → C in CDSP; reduces L-carnitine uptake. 5 PublicationsCorresponds to variant dbSNP:rs60376624Ensembl.1
Natural variantiVAR_064149468T → R in CDSP; markedly reduced carnitine transport compared to the wild-type protein. 1 PublicationCorresponds to variant dbSNP:rs386134221Ensembl.1
Natural variantiVAR_064150471R → C in CDSP. 1 PublicationCorresponds to variant dbSNP:rs749282641Ensembl.1
Natural variantiVAR_066845471R → P in CDSP; reduces carnitine transport. 1 Publication1
Natural variantiVAR_009257478P → L in CDSP; loss of carnitine transport but stimulated organic cation transport. 2 PublicationsCorresponds to variant dbSNP:rs72552735Ensembl.1
Natural variantiVAR_064151488R → C in CDSP. 2 PublicationsCorresponds to variant dbSNP:rs377216516Ensembl.1
Natural variantiVAR_066846488R → H in CDSP; reduces carnitine transport. 1 PublicationCorresponds to variant dbSNP:rs28383481Ensembl.1
Natural variantiVAR_064152507L → S in CDSP. 1 Publication1
Natural variantiVAR_020350549P → S Associated with CDSP; unclassified missense variant. 2 PublicationsCorresponds to variant dbSNP:rs11568525Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi352M → R: Loss of both carnitine and organic cation transport functionalities. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi6584.
MalaCardsiSLC22A5.
MIMi212140. phenotype.
OpenTargetsiENSG00000197375.
Orphaneti158. Systemic primary carnitine deficiency.
PharmGKBiPA333.

Chemistry databases

ChEMBLiCHEMBL2073693.
DrugBankiDB08842. Acetylcarnitine.
DB03128. Acetylcholine.
DB04630. Aldosterone.
DB00345. Aminohippuric acid.
DB00182. Amphetamine.
DB00415. Ampicillin.
DB08795. Azidocillin.
DB01053. Benzylpenicillin.
DB01140. Cefadroxil.
DB00456. Cefalotin.
DB00535. Cefdinir.
DB01413. Cefepime.
DB00671. Cefixime.
DB01333. Cefradine.
DB00438. Ceftazidime.
DB00567. Cephalexin.
DB00689. Cephaloglycin.
DB00122. Choline.
DB00501. Cimetidine.
DB00575. Clonidine.
DB00148. Creatine.
DB01000. Cyclacillin.
DB00970. Dactinomycin.
DB04133. Degraded Cephaloridine.
DB01151. Desipramine.
DB01075. Diphenhydramine.
DB00988. Dopamine.
DB00668. Epinephrine.
DB00695. Furosemide.
DB00365. Grepafloxacin.
DB00536. Guanidine.
DB05381. Histamine.
DB00332. Ipratropium bromide.
DB00125. L-Arginine.
DB00583. L-Carnitine.
DB00281. Lidocaine.
DB00978. Lomefloxacin.
DB06691. Mepyramine.
DB01577. Methamphetamine.
DB00627. Niacin.
DB00184. Nicotine.
DB00368. Norepinephrine.
DB01059. Norfloxacin.
DB01165. Ofloxacin.
DB01032. Probenecid.
DB01035. Procainamide.
DB00908. Quinidine.
DB00468. Quinine.
DB01208. Sparfloxacin.
DB08837. Tetraethylammonium.
DB00152. Thiamine.
DB01409. Tiotropium.
DB00313. Valproic Acid.
DB00661. Verapamil.

Polymorphism and mutation databases

BioMutaiSLC22A5.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002205001 – 557Solute carrier family 22 member 5Add BLAST557

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi57N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi64N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi91N-linked (GlcNAc...) asparagine1 Publication1
Modified residuei486PhosphotyrosineCombined sources1
Modified residuei550PhosphothreonineCombined sources1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiO76082.
PaxDbiO76082.
PeptideAtlasiO76082.
PRIDEiO76082.

PTM databases

iPTMnetiO76082.
PhosphoSitePlusiO76082.

Expressioni

Tissue specificityi

Strongly expressed in kidney, skeletal muscle, heart and placenta. Highly expressed in intestinal cell types affected by Crohn disease, including epithelial cells. Expressed in CD68 macrophage and CD43 T-cells but not in CD20 B-cells.1 Publication

Gene expression databases

BgeeiENSG00000197375.
CleanExiHS_SLC22A5.
ExpressionAtlasiO76082. baseline and differential.
GenevisibleiO76082. HS.

Organism-specific databases

HPAiHPA063062.

Interactioni

Subunit structurei

Interacts with PDZK1.By similarity

GO - Molecular functioni

  • PDZ domain binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi112471. 5 interactors.
IntActiO76082. 5 interactors.
STRINGi9606.ENSP00000245407.

Structurei

3D structure databases

ProteinModelPortaliO76082.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IRIE. Eukaryota.
ENOG410XSRI. LUCA.
GeneTreeiENSGT00760000118852.
HOGENOMiHOG000234570.
HOVERGENiHBG061545.
InParanoidiO76082.
KOiK08202.
OMAiNIRMVTI.
OrthoDBiEOG091G05AC.
PhylomeDBiO76082.
TreeFamiTF315847.

Family and domain databases

CDDicd06174. MFS. 1 hit.
InterProiView protein in InterPro
IPR020846. MFS_dom.
IPR005828. MFS_sugar_transport-like.
IPR004749. Orgcat_transp/SVOP.
IPR005829. Sugar_transporter_CS.
PfamiView protein in Pfam
PF00083. Sugar_tr. 1 hit.
SUPFAMiSSF103473. SSF103473. 1 hit.
TIGRFAMsiTIGR00898. 2A0119. 1 hit.
PROSITEiView protein in PROSITE
PS50850. MFS. 1 hit.
PS00216. SUGAR_TRANSPORT_1. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O76082-1) [UniParc]FASTAAdd to basket

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

        10         20         30         40         50
MRDYDEVTAF LGEWGPFQRL IFFLLSASII PNGFTGLSSV FLIATPEHRC
60 70 80 90 100
RVPDAANLSS AWRNHTVPLR LRDGREVPHS CRRYRLATIA NFSALGLEPG
110 120 130 140 150
RDVDLGQLEQ ESCLDGWEFS QDVYLSTIVT EWNLVCEDDW KAPLTISLFF
160 170 180 190 200
VGVLLGSFIS GQLSDRFGRK NVLFVTMGMQ TGFSFLQIFS KNFEMFVVLF
210 220 230 240 250
VLVGMGQISN YVAAFVLGTE ILGKSVRIIF STLGVCIFYA FGYMVLPLFA
260 270 280 290 300
YFIRDWRMLL VALTMPGVLC VALWWFIPES PRWLISQGRF EEAEVIIRKA
310 320 330 340 350
AKANGIVVPS TIFDPSELQD LSSKKQQSHN ILDLLRTWNI RMVTIMSIML
360 370 380 390 400
WMTISVGYFG LSLDTPNLHG DIFVNCFLSA MVEVPAYVLA WLLLQYLPRR
410 420 430 440 450
YSMATALFLG GSVLLFMQLV PPDLYYLATV LVMVGKFGVT AAFSMVYVYT
460 470 480 490 500
AELYPTVVRN MGVGVSSTAS RLGSILSPYF VYLGAYDRFL PYILMGSLTI
510 520 530 540 550
LTAILTLFLP ESFGTPLPDT IDQMLRVKGM KHRKTPSHTR MLKDGQERPT

ILKSTAF
Length:557
Mass (Da):62,752
Last modified:November 1, 1998 - v1
Checksum:i928B1F6EFF63C48D
GO
Isoform 2 (identifier: O76082-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-336: Missing.
     337-351: TWNIRMVTIMSIMLW → MWILLFQLSSALCFR

Note: No experimental confirmation available.
Show »
Length:221
Mass (Da):24,688
Checksum:iB66DFBC13A50BDAF
GO
Isoform 3 (identifier: O76082-3) [UniParc]FASTAAdd to basket
Also known as: OCTN2VT

The sequence of this isoform differs from the canonical sequence as follows:
     131-131: E → EQDSGAYNAMKNRMGKKPALCLPAQ

Note: Retained in the ER, unable to perform carnitine uptake.
Show »
Length:581
Mass (Da):65,327
Checksum:iC4DB6274B866DBF9
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti114L → P in AAH12325 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06410912G → S in CDSP. 1 PublicationCorresponds to variant dbSNP:rs139203363Ensembl.1
Natural variantiVAR_06411015G → W in CDSP. 3 PublicationsCorresponds to variant dbSNP:rs267607052Ensembl.1
Natural variantiVAR_02034717F → L in CDSP. 3 PublicationsCorresponds to variant dbSNP:rs11568520Ensembl.1
Natural variantiVAR_06411119R → P in CDSP; carnitine transport is reduced to less than 5% of normal. 3 PublicationsCorresponds to variant dbSNP:rs72552723Ensembl.1
Natural variantiVAR_06684222Missing in CDSP; reduces carnitine transport. 1 Publication1
Natural variantiVAR_06684326S → N in CDSP; reduces carnitine transport. 1 PublicationCorresponds to variant dbSNP:rs772578415Ensembl.1
Natural variantiVAR_06411232N → S in CDSP; reduces carnitine transport. 3 PublicationsCorresponds to variant dbSNP:rs72552725Ensembl.1
Natural variantiVAR_06411346P → S in CDSP; carnitine transport is reduced to less than 5% of normal. 4 PublicationsCorresponds to variant dbSNP:rs202088921Ensembl.1
Natural variantiVAR_06411466T → P Associated with CDSP; unclassified missense variant. 1 Publication1
Natural variantiVAR_06411575R → P Associated with CDSP; unclassified missense variant. 1 PublicationCorresponds to variant dbSNP:rs757711838Ensembl.1
Natural variantiVAR_06411683R → L in CDSP; reduces carnitine transport. 5 PublicationsCorresponds to variant dbSNP:rs72552726Ensembl.1
Natural variantiVAR_06411796G → A Associated with CDSP; unclassified missense variant. 1 PublicationCorresponds to variant dbSNP:rs377767450Ensembl.1
Natural variantiVAR_064118122D → Y in CDSP. 1 PublicationCorresponds to variant dbSNP:rs201082652Ensembl.1
Natural variantiVAR_064119123V → G Associated with CDSP; unclassified missense variant. 1 PublicationCorresponds to variant dbSNP:rs748605096Ensembl.1
Natural variantiVAR_064120142A → S in CDSP. 3 PublicationsCorresponds to variant dbSNP:rs151231558Ensembl.1
Natural variantiVAR_064121143P → L Associated with CDSP; unclassified missense variant. 2 Publications1
Natural variantiVAR_020348144L → F1 PublicationCorresponds to variant dbSNP:rs10040427Ensembl.1
Natural variantiVAR_009252169R → Q in CDSP; reduces carnitine transport. 3 PublicationsCorresponds to variant dbSNP:rs121908889Ensembl.1
Natural variantiVAR_064122169R → W in CDSP; abolishes carnitine transport. 4 PublicationsCorresponds to variant dbSNP:rs121908890Ensembl.1
Natural variantiVAR_064123177M → V Associated with CDSP; unclassified missense variant. 1 PublicationCorresponds to variant dbSNP:rs145068530Ensembl.1
Natural variantiVAR_022564179M → L in CDSP. 1 PublicationCorresponds to variant dbSNP:rs386134196Ensembl.1
Natural variantiVAR_064124186L → P in CDSP. 1 PublicationCorresponds to variant dbSNP:rs386134197Ensembl.1
Natural variantiVAR_009253211Y → C in CDSP. 1 PublicationCorresponds to variant dbSNP:rs121908888Ensembl.1
Natural variantiVAR_064125214A → V in CDSP; reduces carnitine transport. 3 PublicationsCorresponds to variant dbSNP:rs386134199Ensembl.1
Natural variantiVAR_064126227R → H in CDSP. 1 PublicationCorresponds to variant dbSNP:rs185551386Ensembl.1
Natural variantiVAR_064127230F → L Associated with CDSP; unclassified missense variant. 1 PublicationCorresponds to variant dbSNP:rs756650860Ensembl.1
Natural variantiVAR_064128232T → M in CDSP; markedly reduced carnitine transport compared to the wild-type protein. 4 PublicationsCorresponds to variant dbSNP:rs114269482Ensembl.1
Natural variantiVAR_064129234G → R in CDSP. 1 Publication1
Natural variantiVAR_064130240A → T Associated with CDSP; unclassified missense variant. 1 Publication1
Natural variantiVAR_064131242G → V in CDSP; abolishes carnitine transport. 2 PublicationsCorresponds to variant dbSNP:rs72552728Ensembl.1
Natural variantiVAR_064132257R → W in CDSP. 1 PublicationCorresponds to variant dbSNP:rs386134203Ensembl.1
Natural variantiVAR_064133264T → R in CDSP. 1 PublicationCorresponds to variant dbSNP:rs201262157Ensembl.1
Natural variantiVAR_066844280S → F in CDSP; reduces carnitine transport. 1 PublicationCorresponds to variant dbSNP:rs386134208Ensembl.1
Natural variantiVAR_064134282R → Q in CDSP; reduces carnitine transport. 3 PublicationsCorresponds to variant dbSNP:rs386134210Ensembl.1
Natural variantiVAR_022565283W → C in CDSP; reduces L-carnitine uptake. 1 PublicationCorresponds to variant dbSNP:rs386134211Ensembl.1
Natural variantiVAR_009254283W → R in CDSP; reduces carnitine transport. 2 PublicationsCorresponds to variant dbSNP:rs72552729Ensembl.1
Natural variantiVAR_064135301A → D in CDSP; has 2-3% residual carnitine transport of the value measured in cells expressing the wild-type protein. 2 PublicationsCorresponds to variant dbSNP:rs72552730Ensembl.1
Natural variantiVAR_064136312I → V Associated with CDSP; unclassified missense variant. 1 PublicationCorresponds to variant dbSNP:rs77300588Ensembl.1
Natural variantiVAR_064137351W → R in CDSP; abolishes carnitine transport. 3 PublicationsCorresponds to variant dbSNP:rs68018207Ensembl.1
Natural variantiVAR_064138355S → L in CDSP. 1 Publication1
Natural variantiVAR_064139358Y → N Associated with CDSP; unclassified missense variant. 1 PublicationCorresponds to variant dbSNP:rs61731073Ensembl.1
Natural variantiVAR_064140362S → L in CDSP. 1 Publication1
Natural variantiVAR_064141398P → L in CDSP. 1 PublicationCorresponds to variant dbSNP:rs144547521Ensembl.1
Natural variantiVAR_064142399R → Q in CDSP; carnitine transport is reduced to less than 5% of normal. 2 PublicationsCorresponds to variant dbSNP:rs121908891Ensembl.1
Natural variantiVAR_064143399R → W in CDSP. 2 PublicationsCorresponds to variant dbSNP:rs267607054Ensembl.1
Natural variantiVAR_064144440T → M in CDSP; reduces carnitine transport. 2 PublicationsCorresponds to variant dbSNP:rs72552732Ensembl.1
Natural variantiVAR_064145442A → I in CDSP; requires 2 nucleotide substitutions; reduces carnitine transport. 3 PublicationsCorresponds to variant dbSNP:rs267607053Ensembl.1
Natural variantiVAR_064146443F → V in CDSP. 1 Publication1
Natural variantiVAR_009255446V → F in CDSP; reduces carnitine transport. 2 PublicationsCorresponds to variant dbSNP:rs72552733Ensembl.1
Natural variantiVAR_064147447Y → C in CDSP; reduces carnitine transport. 2 PublicationsCorresponds to variant dbSNP:rs386134218Ensembl.1
Natural variantiVAR_029315449Y → D in CDSP. 3 PublicationsCorresponds to variant dbSNP:rs11568514Ensembl.1
Natural variantiVAR_009256452E → K in CDSP. 3 PublicationsCorresponds to variant dbSNP:rs72552734Ensembl.1
Natural variantiVAR_064148455P → R in CDSP. 1 Publication1
Natural variantiVAR_022566467S → C in CDSP; reduces L-carnitine uptake. 5 PublicationsCorresponds to variant dbSNP:rs60376624Ensembl.1
Natural variantiVAR_064149468T → R in CDSP; markedly reduced carnitine transport compared to the wild-type protein. 1 PublicationCorresponds to variant dbSNP:rs386134221Ensembl.1
Natural variantiVAR_064150471R → C in CDSP. 1 PublicationCorresponds to variant dbSNP:rs749282641Ensembl.1
Natural variantiVAR_066845471R → P in CDSP; reduces carnitine transport. 1 Publication1
Natural variantiVAR_009257478P → L in CDSP; loss of carnitine transport but stimulated organic cation transport. 2 PublicationsCorresponds to variant dbSNP:rs72552735Ensembl.1
Natural variantiVAR_020349481V → F1 PublicationCorresponds to variant dbSNP:rs11568513Ensembl.1
Natural variantiVAR_036816481V → I1 PublicationCorresponds to variant dbSNP:rs11568513Ensembl.1
Natural variantiVAR_064151488R → C in CDSP. 2 PublicationsCorresponds to variant dbSNP:rs377216516Ensembl.1
Natural variantiVAR_066846488R → H in CDSP; reduces carnitine transport. 1 PublicationCorresponds to variant dbSNP:rs28383481Ensembl.1
Natural variantiVAR_064152507L → S in CDSP. 1 Publication1
Natural variantiVAR_029316508F → L1 PublicationCorresponds to variant dbSNP:rs11568521Ensembl.1
Natural variantiVAR_029317530M → V1 PublicationCorresponds to variant dbSNP:rs11568524Ensembl.1
Natural variantiVAR_020350549P → S Associated with CDSP; unclassified missense variant. 2 PublicationsCorresponds to variant dbSNP:rs11568525Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0111201 – 336Missing in isoform 2. 1 PublicationAdd BLAST336
Alternative sequenceiVSP_043904131E → EQDSGAYNAMKNRMGKKPAL CLPAQ in isoform 3. 1 Publication1
Alternative sequenceiVSP_011121337 – 351TWNIR…SIMLW → MWILLFQLSSALCFR in isoform 2. 1 PublicationAdd BLAST15

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF057164 mRNA. Translation: AAC24828.1.
AB015050 mRNA. Translation: BAA29023.1.
AB016625 Genomic DNA. Translation: BAA36712.1.
AB291606 mRNA. Translation: BAF45812.1.
AK128610 mRNA. Translation: BAC87527.1.
AK313230 mRNA. Translation: BAG36041.1.
AC118464 Genomic DNA. No translation available.
CH471062 Genomic DNA. Translation: EAW62337.1.
CH471062 Genomic DNA. Translation: EAW62338.1.
BC012325 mRNA. Translation: AAH12325.1.
CCDSiCCDS4154.1. [O76082-1]
CCDS78058.1. [O76082-3]
PIRiJW0089.
RefSeqiNP_001295051.1. NM_001308122.1. [O76082-3]
NP_003051.1. NM_003060.3. [O76082-1]
UniGeneiHs.443572.

Genome annotation databases

EnsembliENST00000245407; ENSP00000245407; ENSG00000197375. [O76082-1]
ENST00000435065; ENSP00000402760; ENSG00000197375. [O76082-3]
GeneIDi6584.
KEGGihsa:6584.
UCSCiuc003kww.5. human. [O76082-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

Entry informationi

Entry nameiS22A5_HUMAN
AccessioniPrimary (citable) accession number: O76082
Secondary accession number(s): A2Q0V1
, B2R844, D3DQ87, Q6ZQZ8, Q96EH6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: November 1, 1998
Last modified: July 5, 2017
This is version 165 of the entry and version 1 of the sequence. See 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 5
    Human chromosome 5: 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