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FLASH GENE
Symbol SLC12A4 contributors: mct/npt - updated : 06-01-2010
HGNC name solute carrier family 12 (potassium/chloride transporters), member 4
HGNC id 10913
Location 16q22.1      Physical location : 67.977.376 - 68.002.597
Synonym name
  • electroneutral potassium-chloride cotransporter 1
  • erythroid K-Cl cotransporter 1
  • K-Cl cotransporter
  • Synonym symbol(s) KCC1, FLJ17069, FLJ40489
    DNA
    TYPE functioning gene
    STRUCTURE 24.30 kb     24 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure
  • an initiator element (InR) and a downstream promoter element (DPE)
  • functional AP-2 and Sp1 sites , regulating the promoter
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - splicing 4755 - 1079 - -
    - splicing 4678 - 1087 - -
    - splicing 4652 - 1079 - -
    - splicing 4643 - 1054 - -
    24 - 4773 - 1085 - -
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunespleen   highly
    Nervousbrain   moderately
    Reproductivemale systemprostate  moderately
    Respiratorylung   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • twelve transmembrane segments
  • a large extracellular loop
  • potential N glycosylation sites
  • cytoplasmic N and C terminal domains
  • conjugated GlycoP
    mono polymer homomer , heteromer , oligo
    HOMOLOGY
    interspecies ortholog to murine Slc12a4
    homolog to rattus Slc12a4
    homolog to C.elegans H16O14.1
    homolog to xenopus Xl.2355
    intraspecies homolog to NKCC1
    homolog to SLC12A3
    Homologene
    FAMILY
  • SLC12A transporter family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • mediating electroneutral potassium-chloride cotransport when activated by cell swelling
  • contributing to cell volume homeostasis in single cells
  • involved in the regulation of basolateral Cl(-) exit in NaCl absorbing epithelia
  • maybe involved in erythroid maturation
  • may be a modifier gene in sickle cell disease
  • regulate epithelial ion transport and osmotic homeostasis (Hsu 2007)
  • its activity appears to contribute to erythroid cell growth during late erythropoiesis (De Franceschi 2007)
  • playing a role in corneal epithelial cells in
  • maintaining isotonic steady-state cell volume homeostasis, in recovery of isotonic cell volume after a hypotonic challenge through RVD, and in regulating hypotonicity-induced activation of the p44/42MAPK signaling pathway required for cell proliferation (Capů-Aponte 2007)
  • play an important role in the maintenance of cellular homeostasis (Adragna 2007)
  • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS active transport
    text
  • amino acid transport
  • potassium ion transport
  • PATHWAY
    metabolism
    signaling
    a component
  • homomultimer and heteromultimer with other K-Cl cotransporters
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS