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    PAXX PAXX non-homologous end joining factor [ Homo sapiens (human) ]

    Gene ID: 286257, updated on 7-Apr-2024

    Summary

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    Official Symbol
    PAXXprovided by HGNC
    Official Full Name
    PAXX non-homologous end joining factorprovided by HGNC
    Primary source
    HGNC:HGNC:27849
    See related
    Ensembl:ENSG00000148362 MIM:616315; AllianceGenome:HGNC:27849
    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
    XLS; C9orf142
    Summary
    The protein encoded by this gene plays a role in the nonhomologous end joining (NHEJ) pathway of DNA double-strand break repair. The encoded protein may function to stabilize the Ku70/Ku80 heterodimer to facilitate the assembly and maintain the stability of the NHEJ complex. [provided by RefSeq, Jul 2016]
    Expression
    Ubiquitous expression in spleen (RPKM 25.7), lymph node (RPKM 14.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    9q34.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (136992422..136993976)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (149226833..149228387)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139886874..139888428)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139873016-139873995 Neighboring gene prostaglandin D2 synthase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139878783-139879340 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139879341-139879896 Neighboring gene lipocalin like 1 Neighboring gene Sharpr-MPRA regulatory region 3127 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20564 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20565 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139887067-139887609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29337 Neighboring gene chloride intracellular channel 3 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:139904888-139906087 Neighboring gene ATP binding cassette subfamily A member 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139917045-139917624 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139922830-139923574 Neighboring gene long intergenic non-protein coding RNA 2908

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. PAXX Participates in Base Excision Repair via Interacting with Pol β and Contributes to TMZ Resistance in Glioma Cells. Yang B, et al. J Mol Neurosci, 2018 Oct. PMID 30238427, Free PMC Article
    2. PAXX binding to the NHEJ machinery explains functional redundancy with XLF. Seif-El-Dahan M, et al. Sci Adv, 2023 Jun 2. PMID 37256950, Free PMC Article
    3. Interactome analysis identifies a new paralogue of XRCC4 in non-homologous end joining DNA repair pathway. Xing M, et al. Nat Commun, 2015 Feb 11. PMID 25670504, Free PMC Article
    4. Absence of XRCC4 and its paralogs in human cells reveal differences in outcomes for DNA repair and V(D)J recombination. Ruis B, et al. DNA Repair (Amst), 2020 Jan. PMID 31731258, Free PMC Article
    5. PAXX Is an Accessory c-NHEJ Factor that Associates with Ku70 and Has Overlapping Functions with XLF. Tadi SK, et al. Cell Rep, 2016 Oct 4. PMID 27705800

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PAXX binding to the NHEJ machinery explains functional redundancy with XLF.
      Title: PAXX binding to the NHEJ machinery explains functional redundancy with XLF.
    2. Absence of XRCC4 and its paralogs in human cells reveal differences in outcomes for DNA repair and V(D)J recombination.
      Title: Absence of XRCC4 and its paralogs in human cells reveal differences in outcomes for DNA repair and V(D)J recombination.
    3. Synthetic lethality between DNA repair factors Xlf and Paxx is rescued by inactivation of Trp53
      Title: Synthetic lethality between DNA repair factors Xlf and Paxx is rescued by inactivation of Trp53.
    4. PAXX, XLF and XRCC4 synergise in the efficient DNA double-strand breaks recruitment, substrate recognition and stimulation of Pol lambda enzymatic activity during nonhomologous end joining DNA repair.
      Title: PAXX and its paralogs synergistically direct DNA polymerase λ activity in DNA repair.
    5. PAXX contributes to base excision repair pathway via interaction of polymerase beta. PAXX deficiency causes TMZ sensitivity.
      Title: PAXX Participates in Base Excision Repair via Interacting with Pol β and Contributes to TMZ Resistance in Glioma Cells.
    6. Although PAXX-deficient cells lack c-NHEJ phenotypes, PAXX forms a stable ternary complex with Ku bound to DNA. Thus, PAXX plays an accessory role during c-NHEJ that is largely overlapped by XLF's function.
      Title: PAXX Is an Accessory c-NHEJ Factor that Associates with Ku70 and Has Overlapping Functions with XLF.
    7. These data identify PAXX as a new Non-homologous end joining factor.
      Title: Interactome analysis identifies a new paralogue of XRCC4 in non-homologous end joining DNA repair pathway.
    8. PAXX promotes Ku-dependent DNA ligation in vitro and assembly of core nonhomologous end-joining (NHEJ) factors on damaged chromatin in cells. These findings identify PAXX as a new component of the NHEJ machinery.
      Title: DNA repair. PAXX, a paralog of XRCC4 and XLF, interacts with Ku to promote DNA double-strand break repair.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA polymerase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables molecular adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables molecular adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in double-strand break repair via nonhomologous end joining IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in double-strand break repair via nonhomologous end joining IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in double-strand break repair via nonhomologous end joining IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Ku70:Ku80 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of nonhomologous end joining complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of nonhomologous end joining complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in site of double-strand break IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in site of double-strand break IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein PAXX
    Names
    XRCC4-like small protein
    paralog of XRCC4 and XLF

    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_001329678.2 → NP_001316607.1  protein PAXX isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL807752

    2. NM_183241.3 → NP_899064.1  protein PAXX isoform 2

      See identical proteins and their annotated locations for NP_899064.1

      Status: REVIEWED

      Source sequence(s)
      BC002613
      Consensus CDS
      CCDS7020.1
      UniProtKB/Swiss-Prot
      Q8IY19, Q9BUH6
      Related
      ENSP00000360682.3, ENST00000371620.4
      Conserved Domains (1) summary
      pfam15384
      Location:8 → 204
      PAXX; PAXX, PAralog of XRCC4 and XLF, also called C9orf142

    RNA

    1. NR_138073.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL807752

    2. NR_138074.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL807752

    3. NR_138075.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL807752

    4. NR_138076.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL807752

    5. NR_138077.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL807752

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      136992422..136993976
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      149226833..149228387
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BUH6.2 GenPept UniProtKB/Swiss-Prot:Q9BUH6

    Gene LinkOut

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

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