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

Gene ID: 18970, updated on 28-Oct-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 catalytic activity, acting on DNA; 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, Oct 2024]
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 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. Mutagenesis is elevated in male germ cells obtained from DNA polymerase-beta heterozygous mice. Allen D, et al. Biol Reprod, 2008 Nov. PMID 18650495, Free PMC Article
  2. Mitochondrial DNA integrity is not dependent on DNA polymerase-beta activity. Hansen AB, et al. DNA Repair (Amst), 2006 Jan 5. PMID 16165404
  3. Expression of DNA polymerase {beta} cancer-associated variants in mouse cells results in cellular transformation. Sweasy JB, et al. Proc Natl Acad Sci U S A, 2005 Oct 4. PMID 16179390, Free PMC Article
  4. DNA polymerase β: A missing link of the base excision repair machinery in mammalian mitochondria. Prasad R, et al. DNA Repair (Amst), 2017 Dec. PMID 29100041, Free PMC Article
  5. Determination of apoptosis, uracil incorporation, DNA strand breaks, and sister chromatid exchanges under conditions of thymidylate deprivation in a model of BER deficiency. Li L, et al. Biochem Pharmacol, 2005 Nov 15. PMID 16191427

See all (133) 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)
  • Endonuclease-mediated (2) 
  • Targeted (5)  1 citation

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 IEA
Inferred from Electronic Annotation
more info
  
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-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 ISS
Inferred from Sequence or Structural Similarity
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 IEA
Inferred from Electronic Annotation
more info
  
enables class I DNA-(apurinic or apyrimidinic site) endonuclease activity ISO
Inferred from Sequence Orthology
more info
  
enables damaged DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables damaged DNA binding ISO
Inferred from Sequence Orthology
more info
  
enables enzyme binding IEA
Inferred from Electronic Annotation
more info
  
enables enzyme binding ISO
Inferred from Sequence Orthology
more info
  
enables lyase activity ISO
Inferred from Sequence Orthology
more info
  
enables lyase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding ISO
Inferred from Sequence Orthology
more info
  
enables microtubule binding ISO
Inferred from Sequence Orthology
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in DNA damage response ISO
Inferred from Sequence Orthology
more info
  
involved_in DNA damage response ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in 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
  
involved_in base-excision repair ISS
Inferred from Sequence or Structural Similarity
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 IEA
Inferred from Electronic Annotation
more info
  
involved_in pyrimidine dimer repair ISO
Inferred from Sequence Orthology
more info
  
involved_in response to ethanol IEA
Inferred from Electronic Annotation
more info
  
involved_in response to gamma radiation IEA
Inferred from Electronic Annotation
more info
  
involved_in response to hyperoxia IEA
Inferred from Electronic Annotation
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 cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
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

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