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    PABIR1 PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1 [ Homo sapiens (human) ]

    Gene ID: 116224, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PABIR1provided by HGNC
    Official Full Name
    PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1provided by HGNC
    Primary source
    HGNC:HGNC:23490
    See related
    Ensembl:ENSG00000187866 MIM:617249; AllianceGenome:HGNC:23490
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C9orf42; FAM122A
    Summary
    Enables protein phosphatase 2A binding activity and protein serine/threonine phosphatase inhibitor activity. Involved in mitotic G2/M transition checkpoint; positive regulation of cell growth; and positive regulation of proteasomal ubiquitin-dependent protein catabolic process. Located in cytoplasm and nuclear body. [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
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    Genomic context

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    See PABIR1 in Genome Data Viewer
    Location:
    9q21.11
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (68780065..68785566)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (80953589..80959090)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (71394981..71400482)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene TMEM252 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:71231697-71232198 Neighboring gene uncharacterized LOC105376071 Neighboring gene dermatan sulfate epimerase pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28438 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19928 Neighboring gene NANOG hESC enhancer GRCh37_chr9:71283997-71284549 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:71319670-71320595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28439 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28440 Neighboring gene phosphatidylinositol-4-phosphate 5-kinase type 1 beta Neighboring gene ReSE screen-validated silencer GRCh37_chr9:71358945-71359139 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:71370585-71371135 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:71394470-71394884 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:71394889-71395717 Neighboring gene adaptor related protein complex 3 subunit mu 2 pseudogene Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:71440431-71440932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28441 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:71487058-71487642 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28442 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:71546947-71548146 Neighboring gene RNA, U6 small nuclear 820, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Identifying the SUMO1 modification of FAM122A leading to the degradation of PP2A-Cα by ubiquitin-proteasome system. Fan F, et al. Biochem Biophys Res Commun, 2018 Jun 7. PMID 29678583
    2. 14-3-3-Pred: improved methods to predict 14-3-3-binding phosphopeptides. Madeira F, et al. Bioinformatics, 2015 Jul 15. PMID 25735772, Free PMC Article
    3. Cryo-EM structures of PP2A:B55-FAM122A and PP2A:B55-ARPP19. Padi SKR, et al. Nature, 2024 Jan. PMID 38123684, Free PMC Article
    4. FAM122A is required for hematopoietic stem cell function. Liu MH, et al. Leukemia, 2021 Jul. PMID 33262527, Free PMC Article
    5. FAM122A maintains DNA stability possibly through the regulation of topoisomerase IIα expression. Wang YQ, et al. Exp Cell Res, 2020 Nov 1. PMID 32866497

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FAM122A ensures cell cycle interphase progression and checkpoint control by inhibiting B55alpha/PP2A through helical motifs.
      Title: FAM122A ensures cell cycle interphase progression and checkpoint control by inhibiting B55α/PP2A through helical motifs.
    2. FAM122A is required for hematopoietic stem cell function.
      Title: FAM122A is required for hematopoietic stem cell function.
    3. FAM122A promotes acute myeloid leukemia cell growth through inhibiting PP2A activity and sustaining MYC expression.
      Title: FAM122A promotes acute myeloid leukemia cell growth through inhibiting PP2A activity and sustaining MYC expression.
    4. FAM122A Inhibits Erythroid Differentiation through GATA1.
      Title: FAM122A Inhibits Erythroid Differentiation through GATA1.
    5. FAM122A maintains DNA stability possibly through the regulation of topoisomerase IIalpha expression.
      Title: FAM122A maintains DNA stability possibly through the regulation of topoisomerase IIα expression.
    6. identify FAM122A as a new endogenous PP2A inhibitor
      Title: FAM122A, a new endogenous inhibitor of protein phosphatase 2A.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    New loci associated with kidney function and chronic kidney disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC17347

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein phosphatase 2A binding EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables protein phosphatase 2A binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein phosphatase 2A binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein phosphatase 2A binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein phosphatase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein phosphatase inhibitor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein serine/threonine phosphatase inhibitor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitotic G2/M transition checkpoint IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cell growth IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    PPP2R1A-PPP2R2A-interacting phosphatase regulator 1
    Names
    PABIR family member 1
    family with sequence similarity 122A
    protein FAM122A

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_138333.5 → NP_612206.5  PPP2R1A-PPP2R2A-interacting phosphatase regulator 1

      Status: VALIDATED

      Source sequence(s)
      AL354794, BC013062, BX110658
      Consensus CDS
      CCDS6623.3
      UniProtKB/Swiss-Prot
      Q96E09
      UniProtKB/TrEMBL
      B3KX07
      Related
      ENSP00000377807.5, ENST00000394264.7

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      68780065..68785566
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      80953589..80959090
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96E09.1 GenPept UniProtKB/Swiss-Prot:Q96E09

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
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