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FLASH GENE
Symbol PPP3R1 contributors: mct/ - updated : 14-03-2015
HGNC name protein phosphatase 3, regulatory subunit B, alpha
HGNC id 9317
Location 2p14      Physical location : 68.405.988 - 68.479.651
Synonym name
  • protein phosphatase 3 (formerly 2B), regulatory subunit B, 19kDa, alpha isoform (calcineurin B, type I)
  • calcineurin B, type I (19kDa)
  • protein phosphatase 2B regulatory subunit B alpha
    • Synonym symbol(s) CNB, CALNB1, CNB1
    EC.number 3.1.3.16
    DNA
    TYPE functioning gene
    STRUCTURE 73.66 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Map genetic mapping to D25358-D251778 on chromosome 2p15
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 3111 - 170 - 1998 10520753
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivestomach   moderately
    Endocrineneuroendocrinepituitary  moderately
     thyroid   highly
    Hearing/Equilibriumearinnercochlea predominantly
    Lymphoid/Immunespleen   highly
    Nervousbrain    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skeletonosteoblast
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four EF-hand calcium-binding domains
    • conjugated LipoP
    HOMOLOGY
    interspecies homolog to rattus Ppp3r1 (100 pc)
    homolog to murine Ppp3r1 (100 pc)
    Homologene
    FAMILY
    CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • calmodulin dependent serine/threonine phosphatase
  • regulating bone formation through an effect on osteoblast differentiation
  • regulatory subunit of calcineurin important for the phosphatase activity
  • acting as a calmodulin inhibitor
  • important role of PPP3R1 in cell neoplastic transformation
  • modulates cellular proteasome activity via a specific interaction with PSMA7
  • regulating positively ASK1 through direct dephosphorylation
  • novel function in cardiac stress response, suggesting a possible application of PP3R1 in coronary disease therapy
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • regulatory subunit of calcineurin
  • heterodimer composed of a catalytic subunit (A) and a regulatory subunit (B)
  • Calcineurin is a heterodimer of a 58- to 64-kDa catalytic subunit, calcineurin A (PPP3CA), and a 19-kDa regulatory subunit, calcineurin B (PPP3R1)
    • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
    • protein
  • binds to proteasome subunit alpha type 7 (PSMA7) and inhibits the transactivation activity of HIF1A via the proteasome pathway
  • PPP3R1-induced TNFSF10 expression is mediated by NFKB
  • TRAF domain of TRAF3 interacted with PPP3R1 0)
    • cell & other
    REGULATION
    activated by calmodulin
    inhibited by MAP3K5 through p38- and JNK-mediated NFAT phosphorylation
    Other calcium dependent
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    inhibition of Cnb1 in osteoblasts increases bone mass by directly increasing osteoblast differentiation and indirectly decreasing osteoclastogenesis
    Susceptibility to excessive left ventricular growth
    Variant & Polymorphism other deletion may cause excessive left ventricular growth beyond the level appropriate for cardiac workload when exposed to severe hypertension
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • calcineurin B mutant mice
  • mice deleting the CnB gene lose nearly all Cn activity and show poor tolerance to cardiac stress