POLB DNA polymerase beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: POLBprovided by HGNC
Official Full Name: DNA polymerase betaprovided by HGNC
Primary source: HGNC:HGNC:9174
See related: Ensembl:ENSG00000070501 MIM:174760; AllianceGenome:HGNC:9174
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
Summary: The protein encoded by this gene is a DNA polymerase involved in base excision and repair, also called gap-filling DNA synthesis. The encoded protein, acting as a monomer, is normally found in the cytoplasm, but it translocates to the nucleus upon DNA damage. Several transcript variants of this gene exist, but the full-length nature of only one has been described to date. [provided by RefSeq, Sep 2011]
Expression: Broad expression in testis (RPKM 24.2), urinary bladder (RPKM 8.5) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8p11.21

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (42338494..42371808)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (42608570..42642104)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (42196012..42229326)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Fluorescently labeled human apurinic/apyrimidinic endonuclease APE1 reveals effects of DNA polymerase beta on the APE1-DNA interaction.
Title: Fluorescently labeled human apurinic/apyrimidinic endonuclease APE1 reveals effects of DNA polymerase β on the APE1-DNA interaction.
Defective DNA polymerase beta invoke a cytosolic DNA mediated inflammatory response.
Title: Defective DNA polymerase beta invoke a cytosolic DNA mediated inflammatory response.
Polymorphic mutations in the polb gene promoter and their impact on transcriptional activity.
Title: Polymorphic mutations in the polb gene promoter and their impact on transcriptional activity.
Incorporation of 5',8-cyclo-2'deoxyadenosines by DNA repair polymerases via base excision repair.
Title: Incorporation of 5',8-cyclo-2'deoxyadenosines by DNA repair polymerases via base excision repair.
Two polymorphic mutations in promoter region of DNA polymerase beta in relatively higher percentage of thymic hyperplasia patients.
Title: Two polymorphic mutations in promoter region of DNA polymerase β in relatively higher percentage of thymic hyperplasia patients.
Silencing DNA Polymerase beta Induces Aneuploidy as a Biomarker of Poor Prognosis in Oral Squamous Cell Cancer.
Title: Silencing DNA Polymerase β Induces Aneuploidy as a Biomarker of Poor Prognosis in Oral Squamous Cell Cancer.
Pol beta gap filling, DNA ligation and substrate-product channeling during base excision repair opposite oxidized 5-methylcytosine modifications.
Title: Pol β gap filling, DNA ligation and substrate-product channeling during base excision repair opposite oxidized 5-methylcytosine modifications.
DNA polymerase beta: Closing the gap between structure and function.
Title: DNA polymerase β: Closing the gap between structure and function.
History of DNA polymerase beta X-ray crystallography.
Title: History of DNA polymerase β X-ray crystallography.
Clinical exome sequencing identified POLB c.C1002A as a possible genetic cause in a family with hereditary cancer-predisposing syndrome.
Title: Clinical exome sequencing identified POLB c.C1002A as a possible genetic cause in a family with hereditary cancer-predisposing syndrome.

Submit: New GeneRIF Correction See all GeneRIFs (169)

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
Genome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of polymerase (DNA directed), beta (POLB) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat is a potent inducer of the human DNA repair enzyme beta-polymerase, suggesting Tat may alter DNA stability in AIDS-related lymphomas	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:486751

D8S2287 (e-PCR)
- UniSTS:473963

D8S2288 (e-PCR)
- UniSTS:473964

D8S2289 (e-PCR)
- UniSTS:473965

D8S2290 (e-PCR)
- UniSTS:473966

D8S2286 (e-PCR)
- UniSTS:473967

GDB:384702 (e-PCR)
- UniSTS:157085

SGC31519 (e-PCR)
- UniSTS:44722

RH25936 (e-PCR)
- UniSTS:90547

Homology

Homologs of the POLB gene: The POLB gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 495 organisms have orthologs with human gene POLB
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-(apurinic or apyrimidinic site) endonuclease activity	TAS Traceable Author Statement more info
enables DNA-directed DNA polymerase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables DNA-directed DNA polymerase activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-directed DNA polymerase activity	TAS Traceable Author Statement more info
enables damaged DNA binding	IEA Inferred from Electronic Annotation more info
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables lyase activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables microtubule binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA repair	TAS Traceable Author Statement more info	PubMed
involved_in DNA-templated DNA replication	TAS Traceable Author Statement more info	PubMed
involved_in aging	IEA Inferred from Electronic Annotation more info
involved_in base-excision repair	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in base-excision repair	IDA Inferred from Direct Assay more info	PubMed
involved_in base-excision repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in base-excision repair	TAS Traceable Author Statement more info
involved_in base-excision repair, gap-filling	TAS Traceable Author Statement more info
involved_in double-strand break repair via nonhomologous end joining	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in homeostasis of number of cells	IEA Inferred from Electronic Annotation more info
involved_in immunoglobulin heavy chain V-D-J recombination	IEA Inferred from Electronic Annotation more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in intrinsic apoptotic signaling pathway in response to DNA damage	IEA Inferred from Electronic Annotation more info
involved_in lymph node development	IEA Inferred from Electronic Annotation more info
involved_in neuron apoptotic process	IEA Inferred from Electronic Annotation more info
NOT involved_in nucleotide-excision repair, DNA gap filling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pyrimidine dimer repair	IEA Inferred from Electronic Annotation 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
involved_in salivary gland morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in somatic hypermutation of immunoglobulin genes	IEA Inferred from Electronic Annotation more info
involved_in spleen development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
located_in spindle microtubule	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: DNA polymerase beta

Names: DNA pol beta; DNA polymerase beta subunit; polymerase (DNA directed), beta; polymerase (DNA) beta

NP_002681.1

EC 2.7.7.7

XP_005273592.1

EC 2.7.7.7

XP_005273593.1

EC 2.7.7.7

XP_005273594.1

EC 2.7.7.7

XP_005273595.1

EC 2.7.7.7

XP_005273596.1

EC 2.7.7.7

XP_005273597.1

EC 2.7.7.7

XP_016869072.1

EC 2.7.7.7

XP_016869073.1

EC 2.7.7.7

XP_047277856.1

EC 2.7.7.7

XP_047277857.1

EC 2.7.7.7

XP_054216680.1

EC 2.7.7.7

XP_054216681.1

EC 2.7.7.7

XP_054216682.1

EC 2.7.7.7

XP_054216683.1

EC 2.7.7.7

XP_054216684.1

EC 2.7.7.7

XP_054216685.1

EC 2.7.7.7

XP_054216686.1

EC 2.7.7.7

XP_054216687.1

EC 2.7.7.7

XP_054216688.1

EC 2.7.7.7

XP_054216689.1

EC 2.7.7.7

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_002690.3 → NP_002681.1 DNA polymerase beta

See identical proteins and their annotated locations for NP_002681.1

Status: REVIEWED

Source sequence(s)

BM678092, BP370570, D29013

Consensus CDS

CCDS6129.1

UniProtKB/Swiss-Prot

P06746, Q6FI34

Related

ENSP00000265421.4, ENST00000265421.9

Conserved Domains (1) summary

cd00141
Location:15 → 333

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

42338494..42371808

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005273535.5 → XP_005273592.1 DNA polymerase beta isoform X1

See identical proteins and their annotated locations for XP_005273592.1

Conserved Domains (1) summary

cd00141
Location:15 → 368

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
XM_005273536.5 → XP_005273593.1 DNA polymerase beta isoform X2

Conserved Domains (2) summary

cd00141
Location:15 → 339

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases

smart00483
Location:10 → 340

POLXc; DNA polymerase X family
XM_005273537.5 → XP_005273594.1 DNA polymerase beta isoform X3

Conserved Domains (1) summary

cd00141
Location:15 → 304

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
XM_005273538.3 → XP_005273595.1 DNA polymerase beta isoform X4

See identical proteins and their annotated locations for XP_005273595.1

Conserved Domains (1) summary

cd00141
Location:9 → 219

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
XM_005273539.3 → XP_005273596.1 DNA polymerase beta isoform X5

See identical proteins and their annotated locations for XP_005273596.1

UniProtKB/TrEMBL

B7Z1W5

Conserved Domains (1) summary

cd00141
Location:1 → 179

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
XM_017013583.2 → XP_016869072.1 DNA polymerase beta isoform X4

Conserved Domains (1) summary

cd00141
Location:9 → 219

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
XM_017013584.2 → XP_016869073.1 DNA polymerase beta isoform X5

UniProtKB/TrEMBL

B7Z1W5

Conserved Domains (1) summary

cd00141
Location:1 → 179

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
XM_005273540.5 → XP_005273597.1 DNA polymerase beta isoform X5

See identical proteins and their annotated locations for XP_005273597.1

UniProtKB/TrEMBL

B7Z1W5

Conserved Domains (1) summary

cd00141
Location:1 → 179

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
XM_047421900.1 → XP_047277856.1 DNA polymerase beta isoform X4
XM_047421901.1 → XP_047277857.1 DNA polymerase beta isoform X5

UniProtKB/TrEMBL

B7Z1W5