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FLASH GENE
Symbol PPP2R1A contributors: mct - updated : 06-04-2015
HGNC name protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform
HGNC id 9302
Corresponding disease
MRD36 mental retardation, autosomal dominant 36
Location 19q13.41      Physical location : 52.693.054 - 52.729.678
Synonym name
  • medium tumor antigen-associated 61 kDa protein
  • protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform
  • PP2A, subunit A, PR65-alpha isoform
  • PP2A, subunit A, R1-alpha isoform
    • Synonym symbol(s) PR65A, MGC786
    EC.number 3.1.3.16
    DNA
    TYPE functioning gene
    STRUCTURE 36.62 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 2519 65.2 589 - 1999 9989501
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • fifteen heat repeats (degenerate motifs of approximately thirty nine amino acids)
    • secondary structure two alpha helices joined by a hydrophilic region, the intra repeat loop in each heat repeats
    mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Ppp2r1a
    homolog to C.elegans F48E8.5
    intraspecies homolog to PPP2R1B
    Homologene
    FAMILY
  • phopsphatase 2a regulatory subunit a family
    • CATEGORY regulatory , protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,nucleus
    basic FUNCTION
  • serine/threonine protein phosphatase
  • served as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory b subunit
  • FOXO1 phosphatase (silencing of PPP2R1A protected FOXO1 from dephosphorylation and delayed FOXO1 nuclear translocation, confirming the physiologic role of PPP2R1A in the regulation of FOXO1 function
  • having AKT1-dependent PP2R1A activity that acts at least partly through Jun to affect initial barrier formation during late embryonic epidermal development
  • involved in promotion of DSB repair that may occur in a novel mechanism by activating the nonhomologous end-joining pathway through direct dephosphorylation of XRCCs and DNA-PKcs, contributing to maintenance of genetic stability
  • functions as an oncogene
  • PPP2R1A-mediated dephosphorylation of CARD11 is a critical step to limit T-cell activation and effector cytokine production
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • regulatory subunit of protein phosphatase 2
  • common heterodimeric core enzyme composed of a 36 kDa catalytic subunit (subunit c) and a 65 kDa constant regulatory subunit (pr 65 or subunit a), that associates with a variety of regulatory subunits
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • dephosphorylating SMAD3 specifically under hypoxic conditions
  • interaction partner of CARD11 (is associated with CARD11 in resting as well as activated T cells in the context of the active CBM complex)
  • RAB9A, competes with the catalytic subunit PPP2CA in binding to PPP2R1A, which has an important role in controlling the PPP2CA catalytic activity, compromised in several solid tumors and leukemias
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRD36
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation      
    in ovarian clear cell carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    pharmacologic inhibition of PPP2R1A may be a general method for enhancing the effectiveness of cancer treatments that damage DNA or disrupt components of cell replication
    ANIMAL & CELL MODELS