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POLB DNA polymerase beta [ Homo sapiens (human) ]

Gene ID: 5423, updated on 8-Jul-2021

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
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
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Genomic context

See POLB in Genome Data Viewer
Location:
8p11.21
Exon count:
16
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (42338452..42371810)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (42196012..42229326)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene IKBKB divergent transcript Neighboring gene inhibitor of nuclear factor kappa B kinase subunit beta Neighboring gene uncharacterized LOC105379395 Neighboring gene ribosomal protein L5 pseudogene 23 Neighboring gene dickkopf WNT signaling pathway inhibitor 4 Neighboring gene voltage dependent anion channel 3

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2.
GeneReviews: Not available

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC125976

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 repair TAS
Traceable Author Statement
more info
PubMed 
involved_in DNA-dependent 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, base-free sugar-phosphate removal TAS
Traceable Author Statement
more info
 
involved_in base-excision repair, gap-filling TAS
Traceable Author Statement
more info
 
involved_in cellular response to DNA damage stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
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

Preferred Names
DNA polymerase beta
Names
DNA pol beta
DNA polymerase beta subunit
polymerase (DNA directed), beta
polymerase (DNA) beta
NP_002681.1
XP_005273592.1
XP_005273593.1
XP_005273594.1
XP_005273595.1
XP_005273596.1
XP_005273597.1
XP_006716416.1
XP_016869072.1
XP_016869073.1

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_002690.3NP_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
    Related
    ENSP00000265421.4, ENST00000265421.9
    Conserved Domains (1) summary
    cd00141
    Location:15333
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    42338452..42371810
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005273540.4XP_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:1179
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
  2. XM_017013583.1XP_016869072.1  DNA polymerase beta isoform X4

    Conserved Domains (1) summary
    cd00141
    Location:9219
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
  3. XM_017013584.1XP_016869073.1  DNA polymerase beta isoform X5

    UniProtKB/TrEMBL
    B7Z1W5
    Conserved Domains (1) summary
    cd00141
    Location:1179
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
  4. XM_005273538.2XP_005273595.1  DNA polymerase beta isoform X4

    See identical proteins and their annotated locations for XP_005273595.1

    Conserved Domains (1) summary
    cd00141
    Location:9219
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
  5. XM_005273539.2XP_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:1179
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
  6. XM_005273535.4XP_005273592.1  DNA polymerase beta isoform X1

    See identical proteins and their annotated locations for XP_005273592.1

    Conserved Domains (1) summary
    cd00141
    Location:15368
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
  7. XM_005273536.4XP_005273593.1  DNA polymerase beta isoform X2

    Conserved Domains (2) summary
    cd00141
    Location:15339
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
    smart00483
    Location:10340
    POLXc; DNA polymerase X family
  8. XM_005273537.4XP_005273594.1  DNA polymerase beta isoform X3

    Conserved Domains (1) summary
    cd00141
    Location:15304
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
  9. XM_006716353.2XP_006716416.1  DNA polymerase beta isoform X5

    See identical proteins and their annotated locations for XP_006716416.1

    UniProtKB/TrEMBL
    B7Z1W5
    Conserved Domains (1) summary
    cd00141
    Location:1179
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases

RNA

  1. XR_001745544.2 RNA Sequence

    Related
    ENST00000522610.5
  2. XR_428311.3 RNA Sequence

    Related
    ENST00000518925.5
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