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Details on Person UniProt:O76082 SLC22A5

Class:Id	ReferenceGeneProduct:60848
_chainChangeLog	chain:1-557 added on Sat February 7 2015
_displayName	UniProt:O76082 SLC22A5
_timestamp	2025-05-21 21:39:18
chain	chain:1-557
checksum	928B1F6EFF63C48D
comment	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 (PubMed:10454528, PubMed:10525100, PubMed:10966938, PubMed:17509700, PubMed:20722056, PubMed:33124720). Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Relative uptake activity ratio of carnitine to TEA is 11.3 (PubMed:10454528, PubMed:10525100, PubMed:10966938). In intestinal epithelia, transports the quorum-sensing pentapeptide CSF (competence and sporulation factor) from B.subtilis which induces cytoprotective heat shock proteins contributing to intestinal homeostasis (PubMed:18005709). May also contribute to regulate the transport of organic compounds in testis across the blood-testis-barrier (Probable).FUNCTION Retained in the ER, unable to perform carnitine uptake.CATALYTIC ACTIVITY (R)-carnitine(out) + Na(+)(out) = (R)-carnitine(in) + Na(+)(in)CATALYTIC ACTIVITY glycine betaine(out) + Na(+)(out) = glycine betaine(in) + Na(+)(in)CATALYTIC ACTIVITY glycine betaine(out) + (R)-carnitine(in) = glycine betaine(in) + (R)-carnitine(out)CATALYTIC ACTIVITY O-butanoyl-(R)-carnitine(out) + Na(+)(out) = O-butanoyl-(R)-carnitine(in) + Na(+)(in)CATALYTIC ACTIVITY O-acetyl-(R)-carnitine(out) + Na(+)(out) = O-acetyl-(R)-carnitine(in) + Na(+)(in)CATALYTIC ACTIVITY O-propanoyl-(R)-carnitine(out) + Na(+)(out) = O-propanoyl-(R)-carnitine(in) + Na(+)(in)CATALYTIC ACTIVITY (S)-carnitine(out) + Na(+)(out) = (S)-carnitine(in) + Na(+)(in)CATALYTIC ACTIVITY an O-acyl-(R)-carnitine(out) + Na(+)(out) = an O-acyl-(R)-carnitine(in) + Na(+)(in)CATALYTIC ACTIVITY L-glutamyl-L-arginyl-glycyl-L-methionyl-L-threonine(out) + Na(+)(out) = L-glutamyl-L-arginyl-glycyl-L-methionyl-L-threonine(in) + Na(+)(in)CATALYTIC ACTIVITY N,N-dimethylglycine(out) + Na(+)(out) = N,N-dimethylglycine(in) + Na(+)(in)ACTIVITY REGULATION Inhibited by emetine, quinidine and verapamil. The IC(50) of emetine is 4.2 uM. Not inhibited by valproic acid (PubMed:10966938). Transport of (R)-carnitine is stimulated by cholesterol in the plasma membrane (PubMed:33334877).BIOPHYSICOCHEMICAL PROPERTIES Optimum pH is from 7 to 8.5.SUBUNIT Interacts with PDZK1.INTERACTION In intestinal cells, apical expression is induced by TNF. Localized to the basal membrane of Sertoli cells (PubMed:35307651).SUBCELLULAR LOCATION Strongly expressed in kidney, skeletal muscle, heart and placenta (PubMed:10454528). Primarily expressed by surface epithelial cells of the colon (at protein level) (PubMed:18005709). Expressed in CD68 macrophage and CD43 T-cells but not in CD20 B-cells (PubMed:10454528). In testis, localized to Sertoli cell basal membranes, peritubular myoid cells and Leydig cells (PubMed:35307651).INDUCTION Intestinal expression is induced by IFNG.PTM Glycosylated. Glycosylation affects the expression levels.PTM Not glycosylated.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE Expression in colon is increased in Crohn's disease and human ulcerative colitis (at protein level).SIMILARITY Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family.
description	recommendedName: fullName evidence="37"Organic cation/carnitine transporter 2 alternativeName: High-affinity sodium-dependent carnitine cotransporter alternativeName: Solute carrier family 22 member 5
geneName	SLC22A5 OCTN2
identifier	O76082
isSequenceChanged	FALSE
keyword	Alternative splicing ATP-binding Cell membrane Disease variant Endoplasmic reticulum Glycoprotein Ion transport Membrane Nucleotide-binding Phosphoprotein Proteomics identification Reference proteome Sodium Sodium transport Symport Transmembrane Transmembrane helix Transport
modified	[InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9862192] Weiser, Joel, 2024-02-26 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 [InstanceEdit:9948485] Weiser, Joel, 2025-05-21
name	SLC22A5
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:8995671] ENSEMBL:ENSG00000197375 SLC22A5 [Homo sapiens]
secondaryIdentifier	S22A5_HUMAN A2Q0V1 B2R844 D3DQ87 Q6ZQZ8 Q96EH6
sequenceLength	557
species	[Species:48887] Homo sapiens
(isoformParent)	[ReferenceIsoform:153480] UniProt:O76082-2 SLC22A5 [Homo sapiens] [ReferenceIsoform:401926] UniProt:O76082-1 SLC22A5 [Homo sapiens] [ReferenceIsoform:8971662] UniProt:O76082-3 SLC22A5 [Homo sapiens]
(referenceEntity)	[EntityWithAccessionedSequence:549319] SLC22A5 [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5625620] SLC22A5 W132* [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5625654] SLC22A5 R169Q [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5625661] SLC22A5 P478L [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5625665] SLC22A5 R254* [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5625680] SLC22A5 G15W [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5625686] SLC22A5 R169W [plasma membrane] [Homo sapiens]
(referenceSequence)	[NonsenseMutation:5625616] Nonsense mutation at L-arginine 254 [ReplacedResidue:5625622] L-arginine 169 replaced with L-tryptophan [ReplacedResidue:5625630] L-arginine 169 replaced with L-glutamine [NonsenseMutation:5625698] Nonsense mutation at L-tryptophan 132 [ReplacedResidue:5625702] L-proline 478 replaced with L-leucine [ReplacedResidue:5625709] glycine 15 replaced with L-tryptophan
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No pathways have been reviewed or authored by UniProt:O76082 SLC22A5 (60848)