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POLH DNA polymerase eta [ Homo sapiens (human) ]

Gene ID: 5429, updated on 8-Dec-2018

Summary

Official Symbol
POLHprovided by HGNC
Official Full Name
DNA polymerase etaprovided by HGNC
Primary source
HGNC:HGNC:9181
See related
Ensembl:ENSG00000170734 MIM:603968
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]
Expression
Ubiquitous expression in lymph node (RPKM 4.3), testis (RPKM 3.5) and 25 other tissues See more
Orthologs

Genomic context

See POLH in Genome Data Viewer
Location:
6p21.1
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 and III 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

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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...
  • Platinum drug resistance, organism-specific biosystem (from KEGG)
    Platinum drug resistance, organism-specific biosystemPlatinum-based drugs cisplatin, carboplatin and oxaliplatin are widely used in the therapy of solid malignancies, including testicular, ovarian, head and neck, colorectal, bladder and lung cancers. T...
  • Platinum drug resistance, conserved biosystem (from KEGG)
    Platinum drug resistance, conserved biosystemPlatinum-based drugs cisplatin, carboplatin and oxaliplatin are widely used in the therapy of solid malignancies, including testicular, ovarian, head and neck, colorectal, bladder and lung cancers. T...
  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ16395, FLJ21978

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-directed DNA polymerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
error-prone translesion synthesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
response to radiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
translesion synthesis TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
replication fork IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
site of double-strand break IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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
XP_005249243.1
XP_011513000.1
XP_024302234.1
XP_024302235.1

NCBI Reference Sequences (RefSeq)

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
    ENSP00000361300.1, ENST00000372226.1
    Conserved Domains (1) summary
    cd01702
    Location:10414
    PolY_Pol_eta; DNA Polymerase eta
  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
    ENSP00000361310.4, ENST00000372236.8
    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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005249186.4XP_005249243.1  DNA polymerase eta isoform X1

    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_024446466.1XP_024302234.1  DNA polymerase eta isoform X2

    Conserved Domains (1) summary
    cl25410
    Location:5344
    PolY; Y-family of DNA polymerases
  3. XM_024446467.1XP_024302235.1  DNA polymerase eta isoform X4

    Conserved Domains (1) summary
    cl25410
    Location:38276
    PolY; Y-family of DNA polymerases
  4. XM_011514698.3XP_011513000.1  DNA polymerase eta isoform X3

    See identical proteins and their annotated locations for XP_011513000.1

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