SLC22A4
entrez
6583
canonical
uniprot
Q9H015
canonical
ensembl
ENSG00000197208
resolver
ensp
ENSP00000200652
resolver
ensp
ENSP00000617806
resolver
ensp
ENSP00000783270
resolver
enst
ENST00000200652
resolver
genesymbol
SLC22A4
resolver
genesymbol_syn
ETT
resolver
genesymbol_syn
OCTN1
resolver
genesymbol_syn
UT2H
resolver
hgnc
HGNC:10968
resolver
uniprot
O14546
resolver
uniprot_entry
S22A4_HUMAN
resolver
uniprot_sec
O14546
resolver
activity_regulation
ACTIVITY REGULATION: Allosterically activated by intracellular ATP. {ECO:0000269|PubMed:22206629}.
uniprot
proteins
amino_acid_sequence
MRDYDEVIAFLGEWGPFQRLIFFLLSASIIPNGFNGMSVVFLAGTPEHRCRVPDAANLSSAWRNNSVPLRLRDGREVPHSCSRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTVVTEWNLVCEDNWKVPLTTSLFFVGVLLGSFVSGQLSDRFGRKNVLFATMAVQTGFSFLQIFSISWEMFTVLFVIVGMGQISNYVVAFILGTEILGKSVRIIFSTLGVCTFFAVGYMLLPLFAYFIRDWRMLLLALTVPGVLCVPLWWFIPESPRWLISQRRFREAEDIIQKAAKMNNIAVPAVIFDSVEELNPLKQQKAFILDLFRTRNIAIMTIMSLLLWMLTSVGYFALSLDAPNLHGDAYLNCFLSALIEIPAYITAWLLLRTLPRRYIIAAVLFWGGGVLLFIQLVPVDYYFLSIGLVMLGKFGITSAFSMLYVFTAELYPTLVRNMAVGVTSTASRVGSIIAPYFVYLGAYNRMLPYIVMGSLTVLIGILTLFFPESLGMTLPETLEQMQKVKWFRSGKKTRDSMETEENPKVLITAF
uniprot
proteins
disease_involvement
DISEASE: Rheumatoid arthritis (RA) [MIM:180300]: An inflammatory disease with autoimmune features and a complex genetic component. It primarily affects the joints and is characterized by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. {ECO:0000269|PubMed:14608356}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transporter that mediates the transport of endogenous and microbial zwitterions and organic cations (PubMed:10215651, PubMed:15107849, PubMed:15795384, PubMed:16729965, PubMed:20601551, PubMed:22206629, PubMed:22569296, PubMed:29530864). Functions as a Na(+)-dependent and pH-dependent high affinity microbial symporter of potent food-derived antioxidant ergothioeine (PubMed:15795384, PubMed:29530864, PubMed:33124720). Transports one sodium ion with one ergothioeine molecule (By similarity). Involved in the absorption of ergothioneine from the luminal/apical side of the small intestine and renal tubular cells, and into non-parenchymal liver cells, thereby contributing to maintain steady-state ergothioneine level in the body (PubMed:20601551). Also mediates the bidirectional transport of acetycholine, although the exact transport mechanism has not been fully identified yet (PubMed:22206629). Most likely exports anti-inflammatory acetylcholine in non-neuronal tissues, thereby contributing to the non-neuronal cholinergic system (PubMed:22206629, PubMed:22569296). Displays a general physiological role linked to better survival by controlling inflammation and oxidative stress, which may be related to ergothioneine and acetycholine transports (PubMed:15795384, PubMed:22206629). May also function as a low-affinity Na(+)-dependent transporter of L-carnitine through the mitochondrial membrane, thereby maintaining intracellular carnitine homeostasis (PubMed:10215651, PubMed:15107849, PubMed:16729965). May contribute to regulate the transport of cationic compounds in testis across the blood-testis-barrier (PubMed:35307651). {ECO:0000250|UniProtKB:Q9R141, ECO:0000269|PubMed:10215651, ECO:0000269|PubMed:15107849, ECO:0000269|PubMed:15795384, ECO:0000269|PubMed:16729965, ECO:0000269|PubMed:20601551, ECO:0000269|PubMed:22206629, ECO:0000269|PubMed:22569296, ECO:0000269|PubMed:29530864, ECO:0000269|PubMed:35307651}.
uniprot
proteins
mass_dalton
62155
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
10215651
uniprot
proteins
pubmed
12436193
uniprot
proteins
pubmed
14608356
uniprot
proteins
pubmed
15107849
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15459889
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15795384
uniprot
proteins
pubmed
15832501
uniprot
proteins
pubmed
16729965
uniprot
proteins
pubmed
20601551
uniprot
proteins
pubmed
22206629
uniprot
proteins
pubmed
22569296
uniprot
proteins
pubmed
28209616
uniprot
proteins
pubmed
29530864
uniprot
proteins
pubmed
33124720
uniprot
proteins
pubmed
35307651
uniprot
proteins
pubmed
9426230
uniprot
proteins
sequence_length
551
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:20601551}; Multi-pass membrane protein {ECO:0000305}. Basal cell membrane {ECO:0000269|PubMed:35307651}; Multi-pass membrane protein {ECO:0000305}. Mitochondrion membrane {ECO:0000269|PubMed:16729965}; Multi-pass membrane protein {ECO:0000305}. Note=Localized to the apical membrane of small intestines (PubMed:20601551). Localized to the basal membrane of Sertoli cells (PubMed:35307651). {ECO:0000269|PubMed:20601551, ECO:0000269|PubMed:35307651}.
uniprot
proteins
transmembrane_region
TRANSMEM 21..41; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 142..162; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 172..192; /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 338..358; /note="Helical; Name=7"; /evidence="ECO:0000255"; TRANSMEM 372..392; /note="Helical; Name=8"; /evidence="ECO:0000255"; TRANSMEM 400..420; /note="Helical; Name=9"; /evidence="ECO:0000255"; TRANSMEM 427..447; /note="Helical; Name=10"; /evidence="ECO:0000255"; TRANSMEM 461..481; /note="Helical; Name=11"; /evidence="ECO:0000255"; TRANSMEM 487..507; /note="Helical; Name=12"; /evidence="ECO:0000255
uniprot
proteins