solute carrier family 12 member 3; thiazide-sensitive Na+Cl- cotransporter; Na+Cl- symporter (SLC12A3, TSC)

Function: - electrically silent transporter system - mediates Na⁺ & chloride reabsorption - principal mediator of Na⁺ & Cl- reabsorption in the distal convoluted tubule of the kidney Structure: belongs to the SLC12A transporter family Compartment: membrane Expression: predominant in kidney Pathology: - defects in SLC12A3 are the cause of Gitelman syndrome Pharmacology: - inhibited by thiazide diuretics used in treatment of hypertension

General

solute carrier family 12 (SLC12, SLC12A) symporter

Properties

SIZE: entity length = 1021 aa MW = 113 kD COMPARTMENT: cellular membrane MOTIF: cytoplasmic domain {1-135} transmembrane domain {136-156} exoplasmic loop {157-158} transmembrane domain {159-179} cytoplasmic loop {180-218} transmembrane domain {219-239} exoplasmic loop {240-261} transmembrane domain {262-282} cytoplasmic loop {283-286} transmembrane domain {287-307} exoplasmic loop {308-339} transmembrane domain {340-360} cytoplasmic loop {361-377} transmembrane domain {378-398} exoplasmic loop {399-452} MOTIF: N-glycosylation site {N406} N-glycosylation site {N426} transmembrane domain {453-473} cytoplasmic loop {474-511} transmembrane domain {512-532} exoplasmic loop {533-534} transmembrane domain {535-555} cytoplasmic loop {556-577} transmembrane domain {578-598} exoplasmic loop {599-660} transmembrane domain {661-681} cytoplasmic domain {682-1021}

Database Correlations

OMIM correlations MORBIDMAP 600968 UniProt P55017 PFAM correlations Kegg hsa:6559