U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    POLB DNA polymerase beta [ Homo sapiens (human) ]

    Gene ID: 5423, updated on 19-Sep-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See POLB in Genome Data Viewer
    Location:
    8p11.21
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (42338494..42371808)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (42608570..42642104)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid active region 27303 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:42127815-42128314 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19154 Neighboring gene inhibitor of nuclear factor kappa B kinase subunit beta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27305 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:42150166-42151365 Neighboring gene uncharacterized LOC105379395 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:42163399-42164071 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:42164072-42164743 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:42179455-42179956 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:42179957-42180456 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:42188156-42188656 Neighboring gene ribosomal protein L5 pseudogene 23 Neighboring gene H3K27ac hESC enhancers GRCh37_chr8:42248902-42249402 and GRCh37_chr8:42249403-42249903 Neighboring gene dickkopf WNT signaling pathway inhibitor 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:42258699-42258918 Neighboring gene voltage dependent anion channel 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    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

    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

    Clone Names

    • MGC125976

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 5'-deoxyribose-5-phosphate lyase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
     
    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 class I DNA-(apurinic or apyrimidinic site) endonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 base-excision repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    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
     
    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
    5'-dRP lyase
    5'-deoxyribose-phosphate lyase
    AP lyase
    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_016869072.1
    XP_016869073.1
    XP_047277856.1
    XP_047277857.1
    XP_054216680.1
    XP_054216681.1
    XP_054216682.1
    XP_054216683.1
    XP_054216684.1
    XP_054216685.1
    XP_054216686.1
    XP_054216687.1
    XP_054216688.1
    XP_054216689.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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

      Status: REVIEWED

      Source sequence(s)
      BM678092, BP370570, D29013
      Consensus CDS
      CCDS6129.1
      UniProtKB/Swiss-Prot
      B2RC78, P06746, Q3KP48, Q6FI34
      UniProtKB/TrEMBL
      Q53EV2
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      42338494..42371808
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/TrEMBL
      Q53EV2
      Conserved Domains (1) summary
      cd00141
      Location:15368
      NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
    2. XM_005273536.5XP_005273593.1  DNA polymerase beta isoform X2

      UniProtKB/TrEMBL
      Q53EV2
      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
    3. XM_005273537.5XP_005273594.1  DNA polymerase beta isoform X3

      UniProtKB/TrEMBL
      Q53EV2
      Conserved Domains (1) summary
      cd00141
      Location:15304
      NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
    4. XM_005273538.3XP_005273595.1  DNA polymerase beta isoform X4

      Conserved Domains (1) summary
      cd00141
      Location:9219
      NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
    5. XM_005273539.3XP_005273596.1  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
    6. XM_017013583.2XP_016869072.1  DNA polymerase beta isoform X4

      Conserved Domains (1) summary
      cd00141
      Location:9219
      NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
    7. XM_017013584.2XP_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
    8. XM_005273540.5XP_005273597.1  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
    9. XM_047421900.1XP_047277856.1  DNA polymerase beta isoform X4

    10. XM_047421901.1XP_047277857.1  DNA polymerase beta isoform X5

      UniProtKB/TrEMBL
      B7Z1W5

    RNA

    1. XR_428311.4 RNA Sequence

      Related
      ENST00000518925.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      42608570..42642104
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360705.1XP_054216680.1  DNA polymerase beta isoform X1

      UniProtKB/TrEMBL
      Q53EV2
    2. XM_054360706.1XP_054216681.1  DNA polymerase beta isoform X2

      UniProtKB/TrEMBL
      Q53EV2
    3. XM_054360707.1XP_054216682.1  DNA polymerase beta isoform X3

      UniProtKB/TrEMBL
      Q53EV2
    4. XM_054360708.1XP_054216683.1  DNA polymerase beta isoform X4

    5. XM_054360711.1XP_054216686.1  DNA polymerase beta isoform X5

      UniProtKB/TrEMBL
      B7Z1W5
    6. XM_054360709.1XP_054216684.1  DNA polymerase beta isoform X4

    7. XM_054360712.1XP_054216687.1  DNA polymerase beta isoform X5

      UniProtKB/TrEMBL
      B7Z1W5
    8. XM_054360714.1XP_054216689.1  DNA polymerase beta isoform X5

      UniProtKB/TrEMBL
      B7Z1W5
    9. XM_054360710.1XP_054216685.1  DNA polymerase beta isoform X4

    10. XM_054360713.1XP_054216688.1  DNA polymerase beta isoform X5

      UniProtKB/TrEMBL
      B7Z1W5

    RNA

    1. XR_008487852.1 RNA Sequence