solute carrier family 12 member 4; electroneutral K+-chloride cotransporter 1; erythroid K-Cl cotransporter 1; hKCC1 (SLC12A4, KCC1)

Function

• mediates electroneutral K+-chloride cotransport when activated by cell swelling
• may contribute to cell volume homeostasis in single cells
• may be involved in regulation of basolateral Cl- exit in NaCl absorbing epithelia
• isoform 4 has no transport activity
• homomultimer & heteromultimer with other K-Cl cotransporters

Structure

• N-glycosylated
• belongs to the SLC12A transporter family

Compartment

membrane

Alternative splicing

named isoforms=4

Expression

• ubiquitous
• isoform 1 was not detected in circulating reticulocytes

Pathology

• expression is higher in erythrocytes from patients with Hb SC & Hb SS compared to normal Hb AA erythrocytes
• this may contribute to red blood cell dehydration & to the manifestation of sickle cell disease by increasing the intracellular concentration of HbS

More general terms

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

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6560
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6560
• OMIM: https://mirror.omim.org/entry/604119
• UniProt: http://www.uniprot.org/uniprot/Q9UP95.html