Protein name: KCC1 Aliases: N/D Substrates: K+, Cl- Transport type: N/D Tissue and cellular expression: ubiquitous Subcellular expression: N/D Disease: N/D Locus: 16q22 Sequence ID: NP_001139433.1, NM_001145961.1 NP_001139434.1, NM_001145962.1 NP_005063.1, NM_005072.4 Gene ID: 6560 Splice variants: N/D

S12A4_HUMAN (UniProt)

Gene names: SLC12A4, KCC1
Protein names and data: S12A4_HUMAN, Full=Solute carrier family 12 member 4, Full=Electroneutral potassium-chloride cotransporter 1;Full=Erythroid K-Cl cotransporter 1;Short=hKCC1; Length: 1085 a.a., Mass: 120650 Da,
fasta formatted sequence

Function: Mediates electroneutral potassium-chloride cotransport when activated by cell swelling. May contribute to cell volume homeostasis in single cells. May be involved in the regulation of basolateral Cl(-) exit in NaCl absorbing epithelia (By similarity). Isoform 4 has no transport activity
Cellular location: Membrane; Multi-pass membrane protein
Tissue specificity: Ubiquitous. Levels are much higher in erythrocytes from patients with Hb SC and Hb SS compared to normal AA erythrocytes. This may contribute to red blood cell dehydration and to the manifestation of sickle cell disease by increasing the intracellular concentration of HbS. Isoform 1 was not detected in circulating reticulocytes

Database cross-references

UniProt: Q9UP95
NextBio: 25527
OMIM: 604119
Ensembl: ENST00000576616
GeneCard: GC16M067944
PharmGenUCSF: SLC12A4
Guide to Pharmacology: SLC12A4 (971)
SLC12 family of cation-coupled chloride transporters (971)

HGNC: HGNC:10913

Genetic variants

See also Ensembl:ENST00000576616