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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
    Physical map
    ODZ2 5q35.1 odd Oz/ten-m homolog 2 KIBRA 5q35.1 KIBRA protein RARS 5pter-q11 arginyl-tRNA synthetase LOC345630 5q35.1 similar to fibrillarin PANK3 5q35 pantothenate kinase 3 LOC389342 5 similar to 60S ribosomal protein L10 (QM protein homolog) SLIT3 5q35 slit homolog 3 (Drosophila) FLJ20364 5q35.1 hypothetical protein FLJ20364 DOCK2 5q35.1 dedicator of cyto-kinesis 2 FOXI1 5q34 forkhead box I1 LOC345430 5q35.1 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) LOC133874 5q35.1 hypothetical gene LOC133874 LCP2 5q34 lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) KCNMB1 5q34 potassium large conductance calcium-activated channel, subfamily M, beta member 1 KCNIP1 5q35.2 Kv channel interacting protein 1 LOC389343 5 LOC389343 GABRP 5q33-q34 gamma-aminobutyric acid (GABA) A receptor, pi RANBP17 5q31 RAN binding protein 17 USP12P1 5q33-q34 ubiquitin specific protease 12 pseudogene 1 TLX3 5q35.1 T-cell leukemia, homeobox 3 LOC391847 5 similar to hypothetical protein LOC391848 5 similar to 60S ribosomal protein L10 (QM protein homolog) NPM1 5q35 nucleophosmin (nucleolar phosphoprotein B23, numatrin) FGF18 5q34 fibroblast growth factor 18 FBXW1B 5q35.1 F-box and WD-40 domain protein 1B STK10 5q35.1 serine/threonine kinase 10 LOC285588 5q35.2 similar to RIKEN cDNA 1700007I06 DC-UbP 5q35.2 dendritic cell-derived ubiquitin-like protein KIAA1295 5q35.2 KIAA1295 protein LOC391849 5 similar to neuralized homolog LOC133539 5q35.2 similar to RIKEN cDNA 1810009O10 DUSP1 5q34 dual specificity phosphatase 1 KIAA1181 5q35.2 KIAA1181 protein
    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