Potassium Chloride Cotransporters 3 (KCC3)

SLC12A6; ACCPN; Solute Carrier Family 12 Member 6,Potassium/Chloride Transporters; Agenesis Of Corpus Callosum And Peripheral Neuropathy; K-Cl cotransporter 3

SPN	V208
HGNC	10914
MGI	2135960
PubMed	22423107
UniProt	Q9UHW9
Wiki	SLC12A6

Solute carrier family 12 member 6 isa member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential.

The predicted 1,099-amino acid SLC12A6 protein contains 12 membrane-spanning segments and 5 N-glycosylation sites. SLC12A6 shares 77% amino acid identity with the ubiquitously expressed KCC1 (SLC12A4) and 73% identity with the brain-restricted KCC2. Northern blot analysis detected strong expression of 9-, 7.5-, and 4.5-kb SLC12A6 transcripts in brain, heart, skeletal muscle, and kidney. Western blot analysis showed expression of a 150-kD SLC12A6 protein that was reduced to 120 kD by glycosidase treatment. Functional analyses confirmed that SLC12A6 is a KCC.

Reference

"Molecular cloning and functional characterization of KCC3, a new K-Cl cotransporter."
Am. J. Physiol. 277:C1210-C1219(1999) [PubMed] [Europe PMC] [Abstract]

"Cloning, characterization, and chromosomal location of a novel human K+-Cl- cotransporter."
J. Biol. Chem. 274:10661-10667(1999) [PubMed] [Europe PMC] [Abstract]

"Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family."
J. Biol. Chem. 274:16355-16362(1999) [PubMed] [Europe PMC] [Abstract]

"The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum."
Nat. Genet. 32:384-392(2002) [PubMed] [Europe PMC] [Abstract]

"NH2-terminal heterogeneity in the KCC3 K+-Cl- cotransporter."
Am. J. Physiol. 289:F1246-1261(2005) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

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Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]

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"The full-ORF clone resource of the German cDNA consortium."
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]

"A dominant negative mutant of the KCC1 K-Cl cotransporter: both N- and C-terminal cytoplasmic domains are required for K-Cl cotransport activity."
J. Biol. Chem. 276:41870-41878(2001) [PubMed] [Europe PMC] [Abstract]

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Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]

"Similar Effects of all WNK3 Variants upon SLC12 Cotransporters."
Am. J. Physiol. 301:C601-C608(2011) [PubMed] [Europe PMC] [Abstract]

"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
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