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

Summary

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, Nov 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

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_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Polbeta modulates the expression of type I interferon via STING pathway.
Title: Polβ modulates the expression of type I interferon via STING pathway.
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.
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.
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.
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.
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.
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.
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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8Mit16 (e-PCR), detects polymorphism
- UniSTS:131364

D9Mit34.1 (e-PCR), detects polymorphism
- UniSTS:131903

Polb (e-PCR), detects polymorphism
- UniSTS:144233

Polb (e-PCR), detects polymorphism
- UniSTS:525696

Polb (e-PCR), detects polymorphism
- UniSTS:256481

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

EC 2.7.7.7

EC 4.2.99.18

XP_006509093.1

EC 2.7.7.7

EC 4.2.99.18

XP_011240428.1

EC 2.7.7.7

EC 4.2.99.18

XP_030099215.1

EC 2.7.7.7

EC 4.2.99.18

XP_036009721.1

EC 2.7.7.7

EC 4.2.99.18

XP_036009722.1

EC 2.7.7.7

EC 4.2.99.18

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)

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

NC_000074.7 Reference GRCm39 C57BL/6J

Range

23118135..23143482 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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