solute carrier family 22 member 5; organic cation/carnitine transporter 2; high-affinity Na+-dependent carnitine cotransporter (SLC22A5, OCTN2)

Function: - Na⁺ dependent, high affinity carnitine transporter - role active cellular uptake of carnitine - transports one Na⁺ with one molecule of carnitine - also transports organic cations such as tetraethylammonium (TEA) without the involvement of Na⁺ - relative uptake activity ratio of carnitine to TEA is 11.3 - interacts with PDZK1 (putative) Structure: - belongs to the major facilitator superfamily, organic cation transporter family Compartment: membrane Alternative splicing: named isoforms=2 Expression: - strongly expressed in kidney, skeletal muscle, heart & placenta - highly expressed in intestinal cell types affected by Crohn disease, including epithelial cells - expressed in CD68 macrophage & CD43 T-cells but not in CD20 B-cells Pathology: - defects in SLC22A5 are the cause of systemic primary carnitine deficiency - defects in SLC22A5 may be a cause of susceptibility to Crohn's disease Pharmacology: - inhibited by emetine, quinidine & verapamil - IC(50) of emetine is 4.2 uM - not inhibited by valproic acid

General

glycoprotein major facilitator superfamily (MFS) solute carrier family 22 (SLC22, SLC22A) transmembrane 10 protein

Properties

SIZE: entity length = 557 aa MW = 63 kD COMPARTMENT: cellular membrane MOTIF: cytoplasmic domain {1-20} transmembrane domain {21-41} exoplasmic loop {42-142} MOTIF: N-glycosylation site {N57} N-glycosylation site {N64} N-glycosylation site {N91} transmembrane domain {143-163} cytoplasmic loop {164-172} transmembrane domain {173-193} exoplasmic loop {194-197} 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 {279-341} transmembrane domain {342-362} exoplasmic loop {363-373} transmembrane domain {374-394} cytoplasmic loop {395-406} transmembrane domain {407-427} exoplasmic loop {428-430} transmembrane domain {431-451} cytoplasmic loop {452-462} transmembrane domain {463-483} exoplasmic loop {484-488} transmembrane domain {489-509} cytoplasmic domain {510-557}

Database Correlations

OMIM correlations MORBIDMAP 603377 UniProt O76082 Pfam PF07690 Kegg hsa:6584