Gene Symbol |
SLC12A4
|
Entrez Gene |
6560
|
Alt Symbol |
KCC1
|
Species |
Human
|
Gene Type |
protein-coding
|
Description |
solute carrier family 12 (potassium/chloride transporter), member 4
|
Other Description |
CTC-479C5.17|electroneutral potassium-chloride cotransporter 1|erythroid K-Cl cotransporter 1|hKCC1|potassium/chloride cotransporter 1|solute carrier family 12 (potassium/chloride transporters), member 4|solute carrier family 12 member 4
|
Swissprots |
O75893 F5H0S9 F5H066 O60632 Q13953 Q9UP95 F5H3C0 B4DZ82 Q96LD5 B4DR04 B4DF69 B7ZAV0
|
Accessions |
AAO83657 EAW83191 EAW83192 EAW83193 EAW83194 EAW83195 EAW83196 Q9UP95 AF047338 AAC32815 AF053402 AAC35282 AF054505 AAC39684 AF054506 AAC39685 AI368074 AK026911 AK097808 BAG53532 AK293906 BAG57291 AK293956 BAG57330 AK299042 BAG61116 AK302790 BAG63994 AK310027 AK311073 AK316415 BAH14786 AY026038 AAK01946 BC021193 AAH21193 BC035480 CF272417 DC321966 DC333904 DC402650 DQ892254 ABM83180 DQ895457 ABM86383 U55054 AAC50563 NM_001145961 NP_001139433 NM_001145962 NP_001139434 NM_001145963 NP_001139435 NM_001145964 NP_001139436 NM_005072 NP_005063
|
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. {ECO:0000250}.
|
Subcellular 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.
|