Slc12a4

Summary

Gene Symbol: Slc12a4
Description: solute carrier family 12, member 4
Alias: AW546649, KCC1, RBCKCC1, solute carrier family 12 member 4, K-Cl Co-transporter-1, K-Cl cotransporter KCC1, electroneutral potassium-chloride cotransporter 1, erythroid K-Cl cotransporter 1, mKCC1
Species: mouse
Products:     Slc12a4

Top Publications

  1. Kajiya H, Okamoto F, Li J, Nakao A, Okabe K. Expression of mouse osteoclast K-Cl Co-transporter-1 and its role during bone resorption. J Bone Miner Res. 2006;21:984-92 pubmed
    ..b>KCC1 and chloride channel-7 were found to be expressed in mouse osteoclasts...
  2. Brown F, Scott N, Rank G, Collinge J, Vadolas J, Vickaryous N, et al. ENU mutagenesis identifies the first mouse mutants reproducing human ?-thalassemia at the genomic level. Blood Cells Mol Dis. 2013;50:86-92 pubmed publisher
    ..The RBC13 and RBC14 lines are the first ?-thalassemia mouse models that reproduce human ?-thalassemia at the genomic level, and as such highlight the power of ENU mutagenesis screens in generating mouse models of human disease. ..
  3. Pan D, Kalfa T, Wang D, Risinger M, Crable S, Ottlinger A, et al. K-Cl cotransporter gene expression during human and murine erythroid differentiation. J Biol Chem. 2011;286:30492-503 pubmed publisher
    ..Western blot analysis of RBC membranes revealed KCC1, KCC3, and KCC4 proteins in mouse and human cells, with higher levels in reticulocytes...
  4. Piechotta K, Lu J, Delpire E. Cation chloride cotransporters interact with the stress-related kinases Ste20-related proline-alanine-rich kinase (SPAK) and oxidative stress response 1 (OSR1). J Biol Chem. 2002;277:50812-9 pubmed
    ..kinase (SPAK) and oxidative stress response 1 (OSR1) with the cotransporters KCC3, NKCC1, and NKCC2 but not KCC1 and KCC4...
  5. Brown F, Conway A, Cerruti L, Collinge J, McLean C, Wiley J, et al. Activation of the erythroid K-Cl cotransporter Kcc1 enhances sickle cell disease pathology in a humanized mouse model. Blood. 2015;126:2863-70 pubmed publisher
    ..Here, we describe a mouse line expressing an activated form of the K-Cl cotransporter Slc12a4 (Kcc1), which results in a semi-dominant microcytosis of red cells...
  6. Pellegrino C, Rybicki A, Musto S, Nagel R, Schwartz R. Molecular identification and expression of erythroid K:Cl cotransporter in human and mouse erythroleukemic cells. Blood Cells Mol Dis. 1998;24:31-40 pubmed
    ..Human K:Cl-CT (gene product KCC1) has been recently sequenced from human (hKCC1), rabbit and rat tissue by Gillen et al...
  7. Su W, Shmukler B, Chernova M, Stuart Tilley A, de Franceschi L, Brugnara C, et al. Mouse K-Cl cotransporter KCC1: cloning, mapping, pathological expression, and functional regulation. Am J Physiol. 1999;277:C899-912 pubmed
    ..We have cloned the mouse erythroid KCC1 (mKCC1) cDNA and its flanking genomic regions and mapped the mKCC1 gene to chromosome 8...
  8. Hübner C, Stein V, Hermans Borgmeyer I, Meyer T, Ballanyi K, Jentsch T. Disruption of KCC2 reveals an essential role of K-Cl cotransport already in early synaptic inhibition. Neuron. 2001;30:515-24 pubmed
    ..Patch-clamp measurements of embryonic day 18.5 spinal cord motoneurons demonstrated an excitatory GABA and glycine action in the absence, but not in the presence, of KCC2, revealing a crucial role of KCC2 for synaptic inhibition. ..
  9. Casula S, Shmukler B, Wilhelm S, Stuart Tilley A, Su W, Chernova M, et al. 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. 2001;276:41870-8 pubmed
    ..We have investigated the importance of the N- and C-terminal cytoplasmic domains of mouse KCC1 to its K-Cl cotransport function expressed in Xenopus oocytes...

More Information

Publications13

  1. Tornberg J, Voikar V, Savilahti H, Rauvala H, Airaksinen M. Behavioural phenotypes of hypomorphic KCC2-deficient mice. Eur J Neurosci. 2005;21:1327-37 pubmed
  2. Casula S, Zolotarev A, Stuart Tilley A, Wilhelm S, Shmukler B, Brugnara C, et al. Chemical crosslinking studies with the mouse Kcc1 K-Cl cotransporter. Blood Cells Mol Dis. 2009;42:233-40 pubmed publisher
    Oligomerization, function, and regulation of unmodified mouse Kcc1 K-Cl cotransporter were studied by chemical crosslinking...
  3. Shmukler B, Brugnara C, Alper S. Structure and genetic polymorphism of the mouse KCC1 gene. Biochim Biophys Acta. 2000;1492:353-61 pubmed
    ..We have cloned and sequenced the mouse KCC1 (mKCC1) gene, defined its intron-exon junctions, and analyzed (AC)/(TG) intragenic polymorphisms...
  4. Blaesse P, Airaksinen M, Rivera C, Kaila K. Cation-chloride cotransporters and neuronal function. Neuron. 2009;61:820-38 pubmed publisher
    ..The rapidly expanding work on CCCs promotes our understanding of fundamental mechanisms that control brain development and functions under normal and pathophysiological conditions. ..