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FLASH GENE
Symbol KCNMB1 contributors: SGE/npt - updated : 25-01-2010
HGNC name potassium large conductance calcium-activated channel, subfamily M, beta member 1
HGNC id 6285
Location 5q35.1      Physical location : 169.805.166 - 169.816.638
Synonym name
  • maxi K channel beta 1 subunit
  • BK channel beta subunit
  • large conductance Ca2+-activated K+ channel beta 1 subunit
  • charybdotoxin receptor subunit beta-1
  • Synonym symbol(s) SLO-BETA, hslo-beta, K(VCA)beta, BKbeta, BKbeta1
    DNA
    TYPE functioning gene
    STRUCTURE 11.47 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure
  • a putative CAMK4 responsive element mediating alternative splicing, muscle specific enhancer factors
  • two CArG boxes in the proximal promoterand first intron of KCNMB1, binding Serum response factor (Long 2009)
  • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 1518 - 191 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
     vesselsaorta   
    Digestiveliver    
    Nervousbrainbasal nucleicorpus callosum highly
     brainlimbic systemhippocampus highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularsmooth   
    Muscularstriatumcardiac  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text heart (Long 2009)
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two membrane domains
  • a large extracellular loop including a potentially coiled coil structure, glycosylation sites
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to murine Kcnmb1 (82.7pc)
    homolog to rattus Kcnmb1 (82.7pc)
    Homologene
    FAMILY
  • KCNMB family
  • CATEGORY regulatory , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • fundamental in the control of smooth muscle tone and neuronal excitability
  • regulating the excitability of Purkinje cells by contributing to afterhyperpolarizations and perhaps by shaping individual action potentials
  • may be involved in the microbicidal process (Ahluwalia 2004)
  • increasing the apparent Ca2+/voltage sensitivity of the KCNMA1 channel
  • acting as a negative regulator of smooth muscle contraction by enhancing the calcium sensitivity to KCNMA1
  • required for internal binding of the KCNMA1 channel opener DHS-1 triterpene glycoside and for external binding of the agonist hormone 17-beta-estradiol
  • increases the binding activity of CTX toxin to KCNMA1 peptide blocker
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • regulatory subunit of the KCNMA1 channel, probably four KCNMB1 molecules per KCNMA1 tetramer
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism SNP
  • E65K variant is associated with reduced central pulse pressure, reduced systolic and diastolic blood pressure (Kelley-Hedgepeth 2009, Nielsen 2008)
  • Candidate gene
  • could contribute to vascular dysregulation in sleep apnea-hypopnea syndrome patients (Navarro-Antolin 2009)
  • genetic variation in KCNMB1 can influence the severity of diastolic hypertension
  • Marker
    Therapy target
    ANIMAL & CELL MODELS