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FLASH GENE
Symbol PLCB1 contributors: mct - updated : 29-03-2014
HGNC name phospholipase C, beta 1 (phosphoinositide-specific)
HGNC id 15917
Corresponding disease
EIEE12 Epileptic encephalopathy, early infantile, 12
Location 20p12.3      Physical location : 8.113.295 - 8.865.545
Synonym name
  • 1-phosphatidyl-D-myo-inositol-4,5-bisphosphate
  • 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta 1
  • inositoltrisphosphohydrolase
  • Synonym symbol(s) KIAA0581, RP4-654A7.1, FLJ45792, PI-PLC, PLC-154, PLC-I
    EC.number 3.1.4.3, 3.1.4.11
    DNA
    TYPE functioning gene
    STRUCTURE 752.25 kb     33 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
    32 - 6705 150 1216 - 2008 18390926
  • PLCbeta1a
  • alternative splicing at 3' end
  • C-terminal sequences of 64 AAs
  • 3 C-terminal AAs comprise a PDZ-interacting domain
  • 33 splicing 6823 140 1173 coexpressed with a isoform 2008 18390926
  • PLCbeta1b
  • alternative splicing at 3' end
  • C-terminal sequences of 31 AAs
  • has no PDZ-interacting domain but contains unique proline-rich domain 5 AAs from the C terminus
  • deletion of 3 AAs from the C terminus did not alter its sarcolemmal localization, but deletion of the entire unique 31 AAs sequence caused cytosolic localization
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineparathyroid   highly
    Nervousbrainhindbraincerebellum  
    Reproductivefemale systembreastmammary gland highly
    Respiratoryrespiratory tractlarynx  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelial    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    text
  • cytoplasm and inner side of plasma membrane
  • is mainly localized on the cytosolic plasma membrane surface, although a substantial fraction is also found in the cytosol and, under some conditions, in the nucleus
  • basic FUNCTION
  • catalyzing the hydrolysis of phosphatidylinositol 4,5 biphosphate to generate diacylglycerol and inositol 1,4,5 triphosphate
  • mediating a wide variety of cellular stimuli
  • regulator of cell cycle
  • its localization appears to be a key factor determining the progressive acquisition of meiotic competence and final resumption of meiosis
  • is a G-protein-regulated enzyme whose activity results in proliferative and mitogenic changes in the cell
  • novel role of PLCB1 in gene regulation through TSNAX association
  • CELLULAR PROCESS cell cycle
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • PLCB1/CAMK4-NFKB1 is involved in AGER mediated signaling pathway in human endothelial cells
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PLCB1b associates with a SHANK3 complex at the cardiac sarcolemma via its splice-variant-specific C-terminal tail
  • TSNAX, localized in the cytosol and nucleus, competes with plasma-membrane bound GNAQ for PLCB1 binding thus stabilizing PLCB1 in other cellular compartments
  • GNA15 can signal through TTC1/RAS and PLCB1 simultaneously and independently
  • SNCA protects the integrity of PLCB1 and its ability to be activated by Galpha(q), which may in turn impact Ca2+ signaling
  • previously identified PLCB1-interacting AAs are insufficient to ensure productive interaction of GNA14 with PLCB1, while an intact N-terminal half of GNA14 is apparently required for PLCB1 interaction
  • PTPRN2 and PLCB1 promote metastatic breast cancer cell migration through PI(4,5)P2-dependent actin remodeling
  • cell & other
    REGULATION
    Other PLCbeta1a localization is regulated by its own substrate
    ASSOCIATED DISORDERS
    corresponding disease(s) EIEE12
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   deletion    
    deletion in the progression of myelodysplastic syndrome to acute myeloid leukemia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cardiovascularrythm 
    selective targeting of PLCbeta1b splice variant to the sarcolemma provides a potential therapeutic target to reduce hypertrophy, apoptosis, and arrhythmias.
    cardiovascularvalvulopathy 
    activation of PLCbeta1b is a possible therapeutic target to limit atrial remodelling in mitral valve disease patients
    cardiovascularcardiomyopathy 
    preventing PLCbeta1b association with the sarcolemma may provide a useful therapeutic target to limit hypertrophy
    ANIMAL & CELL MODELS