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    Polb polymerase (DNA directed), beta [ Mus musculus (house mouse) ]

    Gene ID: 18970, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Polbprovided by MGI
    Official Full Name
    polymerase (DNA directed), betaprovided by MGI
    Primary source
    MGI:MGI:97740
    See related
    Ensembl:ENSMUSG00000031536 AllianceGenome:MGI:97740
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    A430088C08Rik
    Summary
    Predicted to enable several functions, including DNA-directed DNA polymerase activity; damaged DNA binding activity; and microtubule binding activity. Acts upstream of or within several processes, including base-excision repair, gap-filling; immune system development; and intrinsic apoptotic signaling pathway in response to DNA damage. Predicted to be located in cytoplasm and spindle microtubule. Predicted to be part of protein-containing complex. Predicted to be active in nucleus. Is expressed in early conceptus; hemolymphoid system; muscle tissue; nervous system; and sensory organ. Used to study systemic lupus erythematosus. Human ortholog(s) of this gene implicated in pancreatic cancer. Orthologous to human POLB (DNA polymerase beta). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis adult (RPKM 49.2), CNS E18 (RPKM 25.3) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Polb in Genome Data Viewer
    Location:
    8 A2; 8 11.42 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (23118135..23143482, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (22628119..22653464, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 30135 Neighboring gene RIKEN cDNA A930013F10 gene Neighboring gene dickkopf WNT signaling pathway inhibitor 4 Neighboring gene STARR-positive B cell enhancer ABC_E6626 Neighboring gene inhibitor of kappaB kinase beta Neighboring gene predicted gene 15346 Neighboring gene plasminogen activator, tissue

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Polβ modulates the expression of type I interferon via STING pathway. Huang M, et al. Biochem Biophys Res Commun, 2022 Sep 17. PMID 35834922
    2. The hematopoietic compartment is sufficient for lupus development resulting from the POLB-Y265C mutation. Rahim T, et al. PLoS One, 2022. PMID 35486639, Free PMC Article
    3. DNA polymerase β deficiency promotes the occurrence of esophageal precancerous lesions in mice. Qin J, et al. Neoplasia, 2021 Jul. PMID 34144266, Free PMC Article
    4. DNA polymerase β outperforms DNA polymerase γ in key mitochondrial base excision repair activities. Baptiste BA, et al. DNA Repair (Amst), 2021 Mar. PMID 33540226, Free PMC Article
    5. Impairment of Pol β-related DNA base-excision repair leads to ovarian aging in mice. Hua K, et al. Aging (Albany NY), 2020 Nov 20. PMID 33223510, Free PMC Article

    See all (126) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DNA polymerase beta connects tumorigenicity with the circadian clock in liver cancer through the epigenetic demethylation of Per1.
      Title: DNA polymerase beta connects tumorigenicity with the circadian clock in liver cancer through the epigenetic demethylation of Per1.
    2. Polbeta/XRCC1 heterodimerization dictates DNA damage recognition and basal Polbeta protein levels without interfering with mouse viability or fertility.
      Title: Polβ/XRCC1 heterodimerization dictates DNA damage recognition and basal Polβ protein levels without interfering with mouse viability or fertility.
    3. Polbeta modulates the expression of type I interferon via STING pathway.
      Title: Polβ modulates the expression of type I interferon via STING pathway.
    4. The hematopoietic compartment is sufficient for lupus development resulting from the POLB-Y265C mutation.
      Title: The hematopoietic compartment is sufficient for lupus development resulting from the POLB-Y265C mutation.
    5. DNA polymerase beta deficiency promotes the occurrence of esophageal precancerous lesions in mice.
      Title: DNA polymerase β deficiency promotes the occurrence of esophageal precancerous lesions in mice.
    6. DNA glycosylase deficiency leads to decreased severity of lupus in the Polb-Y265C mouse model.
      Title: DNA glycosylase deficiency leads to decreased severity of lupus in the Polb-Y265C mouse model.
    7. DNA polymerase beta outperforms DNA polymerase gamma in key mitochondrial base excision repair activities.
      Title: DNA polymerase β outperforms DNA polymerase γ in key mitochondrial base excision repair activities.
    8. DNA polymerases beta and lambda in single-nucleotide and multinucleotide pathways of mammalian base excision DNA repair
      Title: Deployment of DNA polymerases beta and lambda in single-nucleotide and multinucleotide pathways of mammalian base excision DNA repair.
    9. The Polb/p53 double knockout animals exclusively developed medulloblastoma and no other type of brain tumor.
      Title: DNA polymerase β deficiency in the p53 null cerebellum leads to medulloblastoma formation.
    10. To evaluate whether Polb might be causative in senescence induction, the study evaluated the impact of murine Polb nullizygosity on senescence. Unexposed DNA polymerase beta-null primary fibroblasts exhibit a robust increase in the number of senescent cells compared to wild-type (11-fold, P < 0.001), demonstrating that loss DNA polymerase betais sufficient to induce senescence.
      Title: Loss of DNA polymerase β induces cellular senescence.
    Submit: New GeneRIF Correction See all GeneRIFs (46)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (5)  1 citation
    • Endonuclease-mediated (2) 

    Pathways from PubChem

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    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 MGI

    Function Evidence Code Pubs
    enables 5'-deoxyribose-5-phosphate lyase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables DNA polymerase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-directed DNA polymerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-directed DNA polymerase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables DNA-directed DNA polymerase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables class I DNA-(apurinic or apyrimidinic site) endonuclease activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables damaged DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables enzyme binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables lyase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables microtubule binding ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    enables nucleotidyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA damage response ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within DNA replication IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in base-excision repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in base-excision repair ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within base-excision repair TAS
    Traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within base-excision repair, gap-filling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in base-excision repair, gap-filling ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within base-excision repair, gap-filling TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in double-strand break repair via nonhomologous end joining IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within homeostasis of number of cells IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within immunoglobulin heavy chain V-D-J recombination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within lymph node development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within neuron apoptotic process IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in pyrimidine dimer repair ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within salivary gland morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within somatic diversification of immunoglobulins IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within somatic hypermutation of immunoglobulin genes IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within spleen development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    located_in microtubule ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    located_in spindle microtubule ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    located_in synaptonemal complex TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    DNA polymerase beta
    Names
    5'-dRP lyase
    5'-deoxyribose-phosphate lyase
    AP lyase
    Pol beta
    NP_035260.1
    XP_006509093.1
    XP_011240428.1
    XP_030099215.1
    XP_036009721.1
    XP_036009722.1

    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_011130.2 → NP_035260.1  DNA polymerase beta

      See identical proteins and their annotated locations for NP_035260.1

      Status: VALIDATED

      Source sequence(s)
      AK151436, AV001836, AV488131
      Consensus CDS
      CCDS22181.1
      UniProtKB/Swiss-Prot
      Q3UAB6, Q8K409, Q922Z7
      Related
      ENSMUSP00000033938.6, ENSMUST00000033938.7
      Conserved Domains (1) summary
      cd00141
      Location:15 → 333
      NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      23118135..23143482 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006509030.5 → XP_006509093.1  DNA polymerase beta isoform X2

      See identical proteins and their annotated locations for XP_006509093.1

      Conserved Domains (1) summary
      cd00141
      Location:1 → 179
      NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases

    2. XM_030243355.1 → XP_030099215.1  DNA polymerase beta isoform X2

      Conserved Domains (1) summary
      cd00141
      Location:1 → 179
      NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases

    3. XM_036153829.1 → XP_036009722.1  DNA polymerase beta isoform X2

      Conserved Domains (1) summary
      cd00141
      Location:1 → 179
      NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases

    4. XM_011242126.3 → XP_011240428.1  DNA polymerase beta isoform X2

      See identical proteins and their annotated locations for XP_011240428.1

      Conserved Domains (1) summary
      cd00141
      Location:1 → 179
      NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases

    5. XM_036153828.1 → XP_036009721.1  DNA polymerase beta isoform X1

      Conserved Domains (1) summary
      cd00141
      Location:17 → 240
      NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases

    RNA

    1. XR_378779.5 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8K409.3 GenPept UniProtKB/Swiss-Prot:Q8K409

    Gene LinkOut

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

    Other Literature Sources
    Chemical Information
    Molecular Biology Databases
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