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solute carrier family 12 member 1; bumetanide-sensitive Na+/K+-chloride cotransporter 2; kidney-specific Na-K-Cl symporter (SLC12A1, NKCC2)
Function:
- electrically silent transporter system
- mediates Na+ & chloride reabsorption
- role in regulation of ionic balance & cell volume
Structure: belongs to the SLC12A transporter family
Compartment: membrane
Alternative splicing: named isoforms=3; A,B,F
Expression: kidney specific
Pathology:
- defects in SLC12A1 are the cause of Bartter syndrome type 1
General
glycoprotein
solute carrier family 12 (SLC12, SLC12A)
transmembrane 12 protein
Properties
SIZE: entity length = 1099 aa
MW = 121 kD
COMPARTMENT: cellular membrane
MOTIF: cytoplasmic domain {1-177}
transmembrane domain {178-198}
exoplasmic loop {199-201}
transmembrane domain {202-222}
cytoplasmic loop {223-259}
transmembrane domain {260-280}
exoplasmic loop {281-302}
transmembrane domain {303-323}
cytoplasmic loop {324-327}
transmembrane domain {328-348}
exoplasmic loop {349-379}
transmembrane domain {380-400}
cytoplasmic loop {401-417}
transmembrane domain {418-438}
exoplasmic loop {439-484}
MOTIF: N-glycosylation site {N446}
N-glycosylation site {N456}
transmembrane domain {485-505}
cytoplasmic loop {506-550}
transmembrane domain {551-570}
exoplasmic loop {571-571}
transmembrane domain {572-592}
MOTIF: exoplasmic loop {572-571}
cytoplasmic loop {593-609}
transmembrane domain {610-630}
exoplasmic loop {631-792}
transmembrane domain {793-813}
cytoplasmic domain {814-1099}
Database Correlations
OMIM correlations
UniProt Q13621
PFAM correlations
Entrez Gene 6557
Kegg hsa:6557
References
UniProt :accession Q13621