SLC22A5
entrez
6584
canonical
uniprot
O76082
canonical
ensembl
ENSG00000197375
resolver
ensp
ENSP00000245407
resolver
ensp
ENSP00000402760
resolver
ensp
ENSP00000658307
resolver
ensp
ENSP00000720046
resolver
ensp
ENSP00000720047
resolver
genesymbol
SLC22A5
resolver
genesymbol_syn
OCTN2
resolver
hgnc
HGNC:10969
resolver
uniprot
A2Q0V1
resolver
uniprot
B2R844
resolver
uniprot
D3DQ87
resolver
uniprot
Q6ZQZ8
resolver
uniprot
Q96EH6
resolver
uniprot_entry
S22A5_HUMAN
resolver
uniprot_sec
A2Q0V1
resolver
uniprot_sec
B2R844
resolver
uniprot_sec
D3DQ87
resolver
uniprot_sec
Q6ZQZ8
resolver
uniprot_sec
Q96EH6
resolver
activity_regulation
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). {ECO:0000269|PubMed:10966938, ECO:0000269|PubMed:33334877}.
uniprot
proteins
amino_acid_sequence
MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLRLRDGREVPHSCRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTIVTEWNLVCEDDWKAPLTISLFFVGVLLGSFISGQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFVLGTEILGKSVRIIFSTLGVCIFYAFGYMVLPLFAYFIRDWRMLLVALTMPGVLCVALWWFIPESPRWLISQGRFEEAEVIIRKAAKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLRTWNIRMVTIMSIMLWMTISVGYFGLSLDTPNLHGDIFVNCFLSAMVEVPAYVLAWLLLQYLPRRYSMATALFLGGSVLLFMQLVPPDLYYLATVLVMVGKFGVTAAFSMVYVYTAELYPTVVRNMGVGVSSTASRLGSILSPYFVYLGAYDRFLPYILMGSLTILTAILTLFLPESFGTPLPDTIDQMLRVKGMKHRKTPSHTRMLKDGQERPTILKSTAF
uniprot
proteins
disease_involvement
DISEASE: Systemic primary carnitine deficiency (CDSP) [MIM:212140]: Autosomal 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. {ECO:0000269|PubMed:10072434, ECO:0000269|PubMed:10425211, ECO:0000269|PubMed:10454528, ECO:0000269|PubMed:10480371, ECO:0000269|PubMed:10545605, ECO:0000269|PubMed:10559218, ECO:0000269|PubMed:10612840, ECO:0000269|PubMed:10679939, ECO:0000269|PubMed:11058897, ECO:0000269|PubMed:11715001, ECO:0000269|PubMed:15617188, ECO:0000269|PubMed:15714519, ECO:0000269|PubMed:16931768, ECO:0000269|PubMed:17126586, ECO:0000269|PubMed:20027113, ECO:0000269|PubMed:20074989, ECO:0000269|PubMed:20574985, ECO:0000269|PubMed:21922592, ECO:0000269|PubMed:28841266}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Expression in colon is increased in Crohn's disease and human ulcerative colitis (at protein level). {ECO:0000269|PubMed:20722056}.
uniprot
proteins
function
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). {ECO:0000269|PubMed:10454528, ECO:0000269|PubMed:10525100, ECO:0000269|PubMed:10966938, ECO:0000269|PubMed:17509700, ECO:0000269|PubMed:18005709, ECO:0000269|PubMed:20722056, ECO:0000305|PubMed:35307651}.; FUNCTION: [Isoform 3]: Retained in the ER, unable to perform carnitine uptake. {ECO:0000269|PubMed:17509700}.
uniprot
proteins
mass_dalton
62752
uniprot
proteins
mutagenesis
MUTAGEN 91; /note="N->Q: Reduces expression to 50%. No effect on carnitine transporter activity."; /evidence="ECO:0000269|PubMed:17509700"; MUTAGEN 352; /note="M->R: Loss of both carnitine and organic cation transport functionalities. No effect on protein expression."; /evidence="ECO:0000269|PubMed:10454528, ECO:0000269|PubMed:10559218
uniprot
proteins
post_translational_modification
PTM: Glycosylated. Glycosylation affects the expression levels. {ECO:0000269|PubMed:17509700}.; PTM: [Isoform 3]: Not glycosylated. {ECO:0000269|PubMed:17509700}.
uniprot
proteins
protein_family
Major facilitator (TC 2.A.1) superfamily
uniprot
proteins
protein_family
Organic cation transporter (TC 2.A.1.19) family
uniprot
proteins
pubmed
10072434
uniprot
proteins
pubmed
10425211
uniprot
proteins
pubmed
10454528
uniprot
proteins
pubmed
10480371
uniprot
proteins
pubmed
10525100
uniprot
proteins
pubmed
10545605
uniprot
proteins
pubmed
10559218
uniprot
proteins
pubmed
10612840
uniprot
proteins
pubmed
10679939
uniprot
proteins
pubmed
10966938
uniprot
proteins
pubmed
11058897
uniprot
proteins
pubmed
11715001
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15617188
uniprot
proteins
pubmed
15714519
uniprot
proteins
pubmed
16931768
uniprot
proteins
pubmed
17126586
uniprot
proteins
pubmed
17509700
uniprot
proteins
pubmed
17855766
uniprot
proteins
pubmed
18005709
uniprot
proteins
pubmed
19349973
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20027113
uniprot
proteins
pubmed
20074989
uniprot
proteins
pubmed
20574985
uniprot
proteins
pubmed
20722056
uniprot
proteins
pubmed
21922592
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
28841266
uniprot
proteins
pubmed
33124720
uniprot
proteins
pubmed
33334877
uniprot
proteins
pubmed
35307651
uniprot
proteins
pubmed
9618255
uniprot
proteins
pubmed
9685390
uniprot
proteins
pubmed
9916797
uniprot
proteins
sequence_length
557
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10679939, ECO:0000269|PubMed:17509700, ECO:0000269|PubMed:33334877}; Multi-pass membrane protein {ECO:0000269|PubMed:10679939}. Apical cell membrane {ECO:0000269|PubMed:10966938, ECO:0000269|PubMed:20722056}; Multi-pass membrane protein {ECO:0000255}. Basal cell membrane {ECO:0000269|PubMed:35307651}; Multi-pass membrane protein {ECO:0000255}. Note=In intestinal cells, apical expression is induced by TNF. Localized to the basal membrane of Sertoli cells (PubMed:35307651). {ECO:0000269|PubMed:20722056, ECO:0000269|PubMed:35307651}.; SUBCELLULAR LOCATION: [Isoform 3]: Endoplasmic reticulum {ECO:0000269|PubMed:17509700}.
uniprot
proteins
transmembrane_region
TRANSMEM 21..41; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 143..163; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 173..193; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 198..218; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 233..253; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 258..278; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 342..362; /note="Helical; Name=7"; /evidence="ECO:0000255"; TRANSMEM 374..394; /note="Helical; Name=8"; /evidence="ECO:0000255"; TRANSMEM 407..427; /note="Helical; Name=9"; /evidence="ECO:0000255"; TRANSMEM 431..451; /note="Helical; Name=10"; /evidence="ECO:0000255"; TRANSMEM 463..483; /note="Helical; Name=11"; /evidence="ECO:0000255"; TRANSMEM 489..509; /note="Helical; Name=12"; /evidence="ECO:0000255
uniprot
proteins