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    PPP2R1A protein phosphatase 2 scaffold subunit Aalpha [ Homo sapiens (human) ]

    Gene ID: 5518, updated on 5-May-2024

    Summary

    Official Symbol
    PPP2R1Aprovided by HGNC
    Official Full Name
    protein phosphatase 2 scaffold subunit Aalphaprovided by HGNC
    Primary source
    HGNC:HGNC:9302
    See related
    Ensembl:ENSG00000105568 MIM:605983; AllianceGenome:HGNC:9302
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HJS2; MRD36; PP2AA; PR65A; PP2AAALPHA; PP2A-Aalpha
    Summary
    This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes an alpha isoform of the constant regulatory subunit A. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]
    Expression
    Ubiquitous expression in heart (RPKM 78.3), adrenal (RPKM 73.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    19q13.41
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (52190052..52229518)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (55277246..55316713)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (52693305..52732771)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein L37 pseudogene 23 Neighboring gene zinc finger protein 836 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15037 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10993 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:52691895-52692862 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:52692863-52693830 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15042 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:52695753-52696253 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:52724813-52726012 Neighboring gene microRNA 6801 Neighboring gene uncharacterized LOC105372449 Neighboring gene vomeronasal 1 receptor 99 pseudogene Neighboring gene vomeronasal 1 receptor 100 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Houge-Janssens syndrome 2 Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2023-12-06)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2023-12-06)

    ClinGen Genome Curation Page

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat upregulates the total levels of PP2A protein and downregulates the inactive form of phosphorylated PP2A, which leads to inhibit hTERT activity directly or indirectly in CD4+ T cells PubMed
    tat An increase in the amount of PP2A core enzyme with a concomitant decrease in the amount of PP2A holoenzyme inhibits HIV-1 Tat-stimulated transcription from the HIV-1 LTR promoter, indicating a role for PP2A in the modulation of HIV-1 gene expression PubMed
    Vpr vpr ATR-induced phosphorylation of Chk1-Ser(345) requires PP2A only when Vpr activates ATR PubMed
    vpr Depletion of A-alpha and C-beta subunits of PP2A reduces Vpr-induced G2 arrest to the same extent as depletion of ATM and Rad3-related (ATR) PubMed
    vpr A-alpha and C-beta subunits of PP2A are required for the HIV-1 Vpr-induced cell cycle G2 arrest PubMed
    vpr Amino-acid peptide sequence (residues 77-92) of HIV-1 Vpr binds to PP2A1. The sequence from HIV-1 89.6 strain is a cell penetrating and death domain PubMed
    vpr HIV-1 Vpr was found to upregulate PP2A in fission yeast PubMed
    vpr HIV-1 Vpr forms a complex with HIV-1 nucleocapsid that directly activates PP2A PubMed
    Vpu vpu IFN-alpha and IFN-beta increases SCYL2 expression and the increase induces PP2A-mediated dephosphorylation of Vpu, suggesting that SCYL2 affects Vpu function through a phosphorylation-dependent mechanism PubMed
    nucleocapsid gag HIV-1 Vpr forms a complex with HIV-1 nucleocapsid that directly activates PP2A PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC786

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein antigen binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein phosphatase regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein serine/threonine phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in T cell homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in chromosome segregation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chromosome segregation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in female meiotic nuclear division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in meiotic sister chromatid cohesion, centromeric IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in meiotic spindle elongation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitotic sister chromatid separation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of hippo signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of extrinsic apoptotic signaling pathway in absence of ligand IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein-containing complex assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of cell differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of growth NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of meiotic cell cycle process involved in oocyte maturation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of FAR/SIN/STRIPAK complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromosome, centromeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in microtubule cytoskeleton NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in mitochondrion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in neuron projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuronal cell body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of protein phosphatase type 2A complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of protein phosphatase type 2A complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein phosphatase type 2A complex TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform
    Names
    medium tumor antigen-associated 61 KDA protein
    protein phosphatase 2, regulatory subunit A, alpha
    testicular secretory protein Li 1
    NP_001350585.1
    NP_055040.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_047068.2 RefSeqGene

      Range
      5002..44468
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001363656.2NP_001350585.1  serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC010320, AK090488, BC026733, CA426613
      Consensus CDS
      CCDS86798.1
      UniProtKB/TrEMBL
      B3KQV6
      Related
      ENSP00000470504.1, ENST00000462990.5
      Conserved Domains (3) summary
      sd00044
      Location:6690
      HEAT; HEAT repeat [structural motif]
      pfam13646
      Location:309404
      HEAT_2; HEAT repeats
      cl26104
      Location:8283
      HEAT_2; HEAT repeats
    2. NM_014225.6NP_055040.2  serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform isoform 1

      See identical proteins and their annotated locations for NP_055040.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.
      Source sequence(s)
      AC010320, BC026733, CA426613
      Consensus CDS
      CCDS12849.1
      UniProtKB/Swiss-Prot
      P30153, Q13773, Q6ICQ3, Q96DH3
      UniProtKB/TrEMBL
      A8K7B7
      Related
      ENSP00000324804.6, ENST00000322088.11
      Conserved Domains (3) summary
      COG1413
      Location:187462
      HEAT; HEAT repeat [General function prediction only]
      sd00044
      Location:245269
      HEAT; HEAT repeat [structural motif]
      pfam02985
      Location:166196
      HEAT; HEAT repeat

    RNA

    1. NR_033500.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC010320, AK293493, BC026733, CA426613

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      52190052..52229518
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      55277246..55316713
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)