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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
    Physical map
    MEIS1 2p14-p13 Meis1, myeloid ecotropic viral integration site 1 homolog (mouse) LOC391381 2 similar to DNA cytosine methyltransferase 3 alpha isoform a; DNA methyltransferase HsaIIIA; DNA MTase HsaIIIA; DNA cytosine methyltransferase 3A2 ETAA16 2p13-p15 ETAA16 protein LOC391382 2 similar to F-box/LRR-repeat protein 12 (F-box and leucine-rich repeat protein 12) C1D 2p13-p12 similar to F-box/LRR-repeat protein 12 (F-box and leucine-rich repeat protein 12) LOC116143 2p13.3 hypothetical protein BC014022 LOC56902 2p13.3 putatative 28 kDa protein PPP3R1 2p16-p15 protein phosphatase 3 (formerly 2B), regulatory subunit B, 19kDa, alpha isoform (calcineurin B, type I) DKFZP566K1924 2p13.3 DKFZP566K1924 protein PLEK 2p14 pleckstrin LOC391383 2 similar to WD repeat domain 4 protein; WD repeat-containing protein 4 MGC47799 LOC391384 2 similar to KIAA0779 protein GPR73 2p14-p13.1 G protein-coupled receptor 73 KIAA0053 2p13.3 G protein-coupled receptor 73 BMP10 2p13.3 bone morphogenetic protein 10 LOC391385 2 similar to 18 kDa antrum mucosa protein; BRICHOS domain containing 1 GDDR 2p13.3 down-regulated in gastric cancer GDDR GKN1 2p13.3 gastrokine 1 ANTXR1 2p13.1 anthrax toxin receptor 1 GFPT1 2p13 glutamine-fructose-6-phosphate transaminase 1 HIRIP5 2p12 HIRA interacting protein 5 LOC388957 2 similar to expressed sequence C79663 LOC388958 2 hypothetical gene supported by AF090101 AAK1 2p24.3-p14 AP2 associated kinase 1 ANXA4 2p13 annexin A4 FLJ13057 2p13.3 hypothetical protein FLJ13057 similar to germ cell-less RY1 2p13.3 putative nucleic acid binding protein RY-1 MAD 2p12 MAX dimerization protein 1 FLJ25084 2p13.3 hypothetical protein FLJ25084 PCBP1 2p13-p12 poly(rC) binding protein 1 LOC151518 2p13.3 hypothetical LOC151518 MRPL36P1 2p13.2 hypothetical LOC151518
    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