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    POLH DNA polymerase eta [ Homo sapiens (human) ]

    Gene ID: 5429, updated on 28-Aug-2016
    Official Symbol
    POLHprovided by HGNC
    Official Full Name
    DNA polymerase etaprovided by HGNC
    Primary source
    HGNC:HGNC:9181
    See related
    Ensembl:ENSG00000170734 HPRD:04913; MIM:603968; Vega:OTTHUMG00000014743
    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
    Also known as
    XPV; XP-V; RAD30; RAD30A
    Summary
    This gene encodes a member of the Y family of specialized DNA polymerases. It copies undamaged DNA with a lower fidelity than other DNA-directed polymerases. However, it accurately replicates UV-damaged DNA; when thymine dimers are present, this polymerase inserts the complementary nucleotides in the newly synthesized DNA, thereby bypassing the lesion and suppressing the mutagenic effect of UV-induced DNA damage. This polymerase is thought to be involved in hypermutation during immunoglobulin class switch recombination. Mutations in this gene result in XPV, a variant type of xeroderma pigmentosum. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
    Orthologs
    Location:
    6p21.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (43576141..43620523)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (43543878..43588260)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene Yip1 domain family member 3 Neighboring gene RNA polymerase I subunit C Neighboring gene exportin 5 Neighboring gene ribosomal protein S2 pseudogene 29 Neighboring gene GTP binding protein 2 Neighboring gene MAD2L1 binding protein Neighboring gene radial spoke head 9 homolog

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • DNA Damage Bypass, organism-specific biosystem (from REACTOME)
      DNA Damage Bypass, organism-specific biosystemIn addition to various processes for removing lesions from the DNA, cells have developed specific mechanisms for tolerating unrepaired damage during the replication of the genome. These mechanisms ar...
    • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
      DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
    • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
      Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
    • Fanconi anemia pathway, conserved biosystem (from KEGG)
      Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
    • HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
      HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) of replication-independent DNA double strand breaks (DSBs) via homologous recombination repair (HRR) or single strand annealing (SSA) requires the activation of ATM fol...
    • HDR through Homologous Recombination (HRR), organism-specific biosystem (from REACTOME)
      HDR through Homologous Recombination (HRR), organism-specific biosystemHomology directed repair (HDR) through homologous recombination is known as homologous recombination repair (HRR). HRR occurs after extensive resection of DNA double strand break (DSB) ends, which cr...
    • Homology Directed Repair, organism-specific biosystem (from REACTOME)
      Homology Directed Repair, organism-specific biosystemHomology directed repair (HDR) of DNA double strand breaks (DSBs) requires resection of DNA DSB ends. Resection creates 3'-ssDNA overhangs which then anneal with a homologous DNA sequence. This homol...
    • Termination of translesion DNA synthesis, organism-specific biosystem (from REACTOME)
      Termination of translesion DNA synthesis, organism-specific biosystemThe initiation and extent of translesion DNA synthesis (TLS) has to be tightly controlled in order to limit TLS-induced mutagenesis, caused by the low fidelity of TLS-participating DNA polymerases. S...
    • Translesion Synthesis by POLH, organism-specific biosystem (from REACTOME)
      Translesion Synthesis by POLH, organism-specific biosystemDNA polymerase eta (POLH) consists of 713 amino acids and can bypass thymidine-thymidine dimers, correctly adding two dAMPs opposite to the lesion. Mutations in the POLH gene result in the loss of th...
    • Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template, organism-specific biosystem (from REACTOME)
      Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template, organism-specific biosystemUbiquitous environmental and endogenous genotoxic agents cause DNA lesions that can interfere with normal DNA metabolism including DNA replication, eventually resulting in mutations that lead to carc...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ16395, FLJ21978

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA-directed DNA polymerase activity TAS
    Traceable Author Statement
    more info
     
    damaged DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA repair TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA replication IEA
    Inferred from Electronic Annotation
    more info
     
    DNA synthesis involved in DNA repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to UV-C IEA
    Inferred from Electronic Annotation
    more info
     
    error-free translesion synthesis TAS
    Traceable Author Statement
    more info
     
    pyrimidine dimer repair IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of DNA repair TAS
    Traceable Author Statement
    more info
    PubMed 
    response to UV-C IDA
    Inferred from Direct Assay
    more info
    PubMed 
    translesion synthesis TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    DNA polymerase eta
    Names
    RAD30 homolog A
    polymerase (DNA directed), eta
    polymerase (DNA) eta
    xeroderma pigmentosum variant type protein
    NP_001278898.1
    NP_001278899.1
    NP_006493.1

    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.

    Genomic

    1. NG_009252.1 RefSeqGene

      Range
      5001..49383
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_470

    mRNA and Protein(s)

    1. NM_001291969.1NP_001278898.1  DNA polymerase eta isoform 2

      See identical proteins and their annotated locations for NP_001278898.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two alternate exons compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AK023893, AK307660, AL353602, DC416114
      UniProtKB/TrEMBL
      B3KN75
      Conserved Domains (1) summary
      cl12025
      Location:66304
      PolY; Y-family of DNA polymerases
    2. NM_001291970.1NP_001278899.1  DNA polymerase eta isoform 3

      See identical proteins and their annotated locations for NP_001278899.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (3) is shorter at the C-terminus compared to isoform 1.
      Source sequence(s)
      AL353602, BC015742, DC416114
      Consensus CDS
      CCDS78147.1
      UniProtKB/Swiss-Prot
      Q9Y253
      Related
      ENSP00000361300, OTTHUMP00000016480, ENST00000372226, OTTHUMT00000040668
      Conserved Domains (2) summary
      cd01702
      Location:10414
      PolY_Pol_eta; DNA Polymerase eta
      COG0389
      Location:7354
      DinP; Nucleotidyltransferase/DNA polymerase involved in DNA repair [Replication, recombination and repair]
    3. NM_006502.2NP_006493.1  DNA polymerase eta isoform 1

      See identical proteins and their annotated locations for NP_006493.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB024313, AL353602, DC416114
      Consensus CDS
      CCDS4902.1
      UniProtKB/Swiss-Prot
      Q9Y253
      UniProtKB/TrEMBL
      A0A024RD62
      Related
      ENSP00000361310, OTTHUMP00000016478, ENST00000372236, OTTHUMT00000040666
      Conserved Domains (2) summary
      cd01702
      Location:10428
      PolY_Pol_eta; DNA Polymerase eta
      COG0389
      Location:7354
      DinP; Nucleotidyltransferase/DNA polymerase involved in DNA repair [Replication, recombination and repair]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      43576141..43620523
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005249186.3XP_005249243.1  

      See identical proteins and their annotated locations for XP_005249243.1

      UniProtKB/TrEMBL
      B4DG64
      Conserved Domains (1) summary
      cl12025
      Location:1366
      PolY; Y-family of DNA polymerases
    2. XM_011514698.2XP_011513000.1  

      See identical proteins and their annotated locations for XP_011513000.1

      Conserved Domains (1) summary
      cl12025
      Location:66304
      PolY; Y-family of DNA polymerases

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      43546961..43591323
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)