solute carrier family 12 member 6; electroneutral K+-chloride cotransporter 3; K-Cl cotransporter 3 (SLC12A6, KCC3)

Function: - mediates electroneutral K⁺-chloride cotransport - may be activated by cell swelling - may contribute to cell volume homeostasis in single cells - activated by N-ethylmaleimide (NEM) - inhibited by DIOA, bumetanide & furosemide - homomultimer & heteromultimer with other K-Cl cotransporters (putative) Structure: - N-glycosylated - belongs to the SLC12A transporter family Compartment: membrane Alternative splicing: named isoforms=2 Expression: - highly expressed in heart, brain & kidney - detected at lower levels in skeletal muscle, placenta, lung & pancreas - detected in umbilical vein endothelial cells - up-regulated by VEGF - down-regulated by TNF Pathology: - defects in SLC12A6 are a cause of agenesis of the corpus callosum with peripheral neuropathy (ACCPN)

General

glycoprotein phosphoprotein solute carrier family 12 (SLC12, SLC12A) transmembrane 12 protein

Properties

SIZE: entity length = 1150 aa MW = 128 kD COMPARTMENT: cellular membrane MOTIF: cytoplasmic domain {1-185} MOTIF: Ser phosphorylation site {S32} transmembrane domain {186-206} exoplasmic loop {207-207} transmembrane domain {208-228} cytoplasmic loop {229-235} transmembrane domain {236-256} exoplasmic loop {257-276} transmembrane domain {277-297} cytoplasmic loop {298-319} transmembrane domain {320-340} exoplasmic loop {341-342} transmembrane domain {343-363} cytoplasmic loop {364-480} transmembrane domain {481-501} exoplasmic loop {502-517} MOTIF: N-glycosylation site {N504} transmembrane domain {518-538} cytoplasmic loop {539-558} transmembrane domain {559-579} exoplasmic loop {580-631} transmembrane domain {632-652} cytoplasmic loop {653-689} transmembrane domain {690-710} exoplasmic loop {711-909} MOTIF: N-glycosylation site {N895} transmembrane domain {910-930} cytoplasmic domain {931-1150} MOTIF: Ser phosphorylation site {S1007} Ser phosphorylation site {S1029} Ser phosphorylation site {S1032}

Database Correlations

OMIM correlations MORBIDMAP 604878 UniProt Q9UHW9 PFAM correlations Entrez Gene 9990