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solute carrier family 22 member 4 (SLC22A4, organic cation/carnitine transporter 1, ergothioneine transporter, ET transporter, ETT, OCTN1, UT2H)
Function:
- Na+ dependent, low affinity carnitine transporter
- stoichiometry: 1 Na+ with 1 carnitine
- also transports organic cations such as tetraethylammonium (Na+ independent)
- ergothioneine appears to be a substrate
- interacts with PDZK1 (putative)
Kinetic parameters:
- KM=0.470 mM for TEA (37C & pH=7.4)
- Vmax=0.974 nmol/min/mg enzyme toward TEA (37C & pH=7.4)
- pH dependence:
- more active at neutral & alkaline pHs than at acidic pH
Structure:
- belongs to the major facilitator superfamily, organic cation transporter family
Compartment: membrane
Expression:
- widely expressed
- expressed in blood, bone marrow, trachea, fetal liver, intestinal epithelial cells > kidney, skeletal muscle, prostate, lung, pancreas, placenta, heart, uterus, spleen & spinal cord
- expressed in CD68 macrophage & CD43 T-cells but not in CD20 B-cells
- predominantly expressed in CD14 cells in peripheral blood mononuclear cells
- overexpressed upon TNF-alpha treatment
Pathology:
- defects in SLC22A4 may be a cause of susceptibility to Crohn's disease; highly expressed in intestinal cell types affected by Crohn's disease, including epithelial cells
- defects in SLC22A4 may be a cause of rheumatoid arthritis
Related
inflammatory bowel disease
General
glycoprotein
major facilitator superfamily (MFS)
solute carrier family 22 (SLC22, SLC22A)
transmembrane 12 protein
Properties
SIZE: MW = 62 kD
entity length = 551 aa
COMPARTMENT: cellular membrane
MOTIF: cytoplasmic domain {1-20}
transmembrane domain {21-41}
exoplasmic loop {42-141}
MOTIF: N-glycosylation site {N57}
N-glycosylation site {N64}
N-glycosylation site {N91}
transmembrane domain {142-162}
cytoplasmic loop {163-171}
transmembrane domain {172-192}
exoplasmic loop {193-197}
transmembrane domain {198-218}
ATP-binding site
NAME: ATP-binding site
SITE: 218-225
cytoplasmic loop {219-232}
transmembrane domain {233-253}
exoplasmic loop {254-257}
transmembrane domain {258-278}
cytoplasmic loop {279-337}
transmembrane domain {338-358}
exoplasmic loop {359-371}
transmembrane domain {372-392}
cytoplasmic loop {393-399}
transmembrane domain {400-420}
exoplasmic loop {421-426}
transmembrane domain {427-447}
cytoplasmic loop {448-460}
transmembrane domain {461-481}
exoplasmic loop {482-486}
transmembrane domain {487-507}
cytoplasmic domain {508-551}
Database Correlations
OMIM correlations
UniProt Q9H015
Pfam PF07690
Kegg hsa:6583
References
- UniProt :accession Q9H015
- Gru:undemann D et al
Drug excretion mediated by a new prototype of polyspecific
transporter
Nature. 1994 Dec 8;372(6506):549-52.
PMID: 7990927