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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
    Physical map
    MBNL1 3q25.1-q25.2 muscleblind-like (Drosophila) P2RY1 3q25 purinergic receptor P2Y, G-protein coupled, 1 RAP2B 3q25.2 RAP2B, member of RAS oncogene family LOC152118 3q25.2 hypothetical gene supported by AF086445 DKFZP434D146 3q25.2 DKFZP434D146 protein RH_II/GuBp2 3q25.2 similar to orphan seven transmembrane receptor DHX36 3q25 DEAH (Asp-Glu-Ala-His) box polypeptide 36 GPR149 3q25.2 G protein-coupled receptor 149 MME 3q25.1-q25.2 membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase, CALLA, CD10) LOC256283 3q25.2 hypothetical LOC256283 KIAA1069 3q26.1 hypothetical LOC256283 FLJ31139 3q25.31 hypothetical protein FLJ31139 SLC33A1 3q25.31 solute carrier family 33 (acetyl-CoA transporter), member 1 GMPS 3q24 guanine monphosphate synthetase LOC389168 3 similar to template acyivating factor-I alpha LOC344760 3q25.31 similar to seven transmembrane helix receptor MRE11B 3q25 MRE11 meiotic recombination 11 homolog B (S. cerevisiae) KCNAB1 3q26.1 potassium voltage-gated channel, shaker-related subfamily, beta member 1 SSR3 3q25.31 signal sequence receptor, gamma (translocon-associated protein gamma) TIPARP 3q25.31 TCDD-inducible poly(ADP-ribose) polymerase LOC389169 3 hypothetical gene supported by BC001951; NM_006191 LOC389170 3 similar to hypothetical protein FLJ14957 LOC339892 3q25.31 similar to Death domain containing protein CRADD (Caspase and RIP adaptator with death domain) (RIP associated protein with a death domain) CCNL1 3q26.1 cyclin L1 LOC391589 3 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) FLJ12604 3q24-q25 hypothetical protein FLJ12604 PTX3 3q21-q25 pentaxin-related gene, rapidly induced by IL-1 beta LOC152078 3q25.32 hypothetical protein BC010062 SHOX2 3q25-q26.1 short stature homeobox 2 MGC12197 3q25.32 BM-011 protein MLF1 3q25.1 myeloid leukemia factor 1 EFG1 3q25.1-q26.2 myeloid leukemia factor 1 LXN 3q25-q31 myeloid leukemia factor 1 RARRES1 3q25.31 retinoic acid receptor responder (tazarotene induced) 1 FLJ14153 3q25.32 hypothetical protein FLJ14153 GPR79 3q26 G protein-coupled receptor 79 pseudogene SCHIP1 3q25.3-q27 schwannomin interacting protein 1 IL12A 3q25.1-q25.3 interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) LOC389171 3 similar to bromodomain containing 7; bromodomain protein; bromodomain-containing 7
    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