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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
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