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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
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