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FLASH GENE
Symbol KCNAB1 contributors: mct - updated : 24-06-2014
HGNC name potassium voltage-gated channel, shaker-related subfamily, beta member 1
HGNC id 6228
Location 3q25.31      Physical location : 155.838.336 - 156.256.927
Synonym name
  • oxidoreductase beta 1 cytoplasmic peptide
  • potassium channel beta 3 chain
    • Synonym symbol(s) HKVB3, AKR6A3, CNA1B, KVB1.3, HKVBETA3, KCNA1B, KV-BETA-1
    DNA
    TYPE functioning gene
    STRUCTURE 418.59 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 splicing 3715 - 419 - 1999 10399921
    Kv-beta 1.1
    14 splicing 3835 - 408 - 1999 10399921
    Kv-beta 1.2
    14 - 4518 - 401 - 1999 10399921
    Kv-beta 1.3
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestivemouthtongue  highly
    Lymphoid/Immunethymus   highly
    Nervousbrainforebraincerebral cortex   Homo sapiens
     brainhindbraincerebellum predominantly
     nerve   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer tetramer , complex
    HOMOLOGY
    interspecies homolog to Drosophila shaker-related subfamily
    intraspecies homolog to NAD(P)H dependent oxidoreductases
    Homologene
    FAMILY shaker potassium channel beta subunit family
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • modulating the amplitude of K+ currents
  • play a critical role in regulating arterial tone by modulating the membrane potential of vascular smooth muscle cells
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text ion transport
    PATHWAY
    metabolism
    signaling
    a component
  • channel constituent (coassembly in the endoplasmic reticulum with the channel forming alpha subunits)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • associating by its N terminus with beta subunits
  • functional coupling between the KCNA1 channel and aldoketoreductase KCNAB1
    • cell & other
    REGULATION
    repressed by BMP2 that significantly (>2-fold) downregulated mRNA expression of KCNAB1 9)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to lateral temporal epilepsy (LTE)
    Variant & Polymorphism SNP SNP (rs992353) located near the 3 prime end of KCNAB1 slightly associated with LTE
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS