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    POLH DNA polymerase eta [ Homo sapiens (human) ]

    Gene ID: 5429, updated on 3-Apr-2024

    Summary

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    Official Symbol
    POLHprovided by HGNC
    Official Full Name
    DNA polymerase etaprovided by HGNC
    Primary source
    HGNC:HGNC:9181
    See related
    Ensembl:ENSG00000170734 MIM:603968; AllianceGenome:HGNC:9181
    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
    mouse all
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    Genomic context

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    Location:
    6p21.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (43576185..43620523)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (43404918..43449256)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (43543922..43588260)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene U7 small nuclear RNA Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17235 Neighboring gene small Cajal body-specific RNA 15 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:43514706-43515905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24604 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43545520-43546020 Neighboring gene RNA polymerase I and III subunit C Neighboring gene ReSE screen-validated silencer GRCh37_chr6:43579698-43579923 Neighboring gene exportin 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24605 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24606 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17238 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17237 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43604555-43605342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43605343-43606129 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:43612192-43612380 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24607 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24611 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17239 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43639230-43639862 Neighboring gene MAD2L1 binding protein Neighboring gene GTP binding protein 2 Neighboring gene radial spoke head component 9 Neighboring gene mitochondrial ribosomal protein S18A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Mutagenic incorporation of inosine into DNA via T:I mismatch formation by human DNA polymerase eta (polη). Averill JR, et al. Biochem J, 2023 May 15. PMID 37129084
    2. Human DNA polymerase η promotes RNA-templated error-free repair of DNA double-strand breaks. Chakraborty A, et al. J Biol Chem, 2023 Mar. PMID 36758800, Free PMC Article
    3. Primer terminal ribonucleotide alters the active site dynamics of DNA polymerase η and reduces DNA synthesis fidelity. Chang C, et al. J Biol Chem, 2023 Mar. PMID 36702254, Free PMC Article
    4. A new POLH mutation in a consanguineous Chinese family with xeroderma pigmentosum variant type. OuYang X, et al. Clin Exp Dermatol, 2022 Nov. PMID 35984432
    5. Current state of knowledge of human DNA polymerase eta protein structure and disease-causing mutations. Feltes BC, et al. Mutat Res Rev Mutat Res, 2022 Jul-Dec. PMID 35952573

    See all (206) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The peroxidation-derived DNA adduct, 6-oxo-M1dG, is a strong block to replication by human DNA polymerase eta.
      Title: The peroxidation-derived DNA adduct, 6-oxo-M(1)dG, is a strong block to replication by human DNA polymerase η.
    2. Mutagenic incorporation of inosine into DNA via T:I mismatch formation by human DNA polymerase eta (poleta).
      Title: Mutagenic incorporation of inosine into DNA via T:I mismatch formation by human DNA polymerase eta (polη).
    3. Primer terminal ribonucleotide alters the active site dynamics of DNA polymerase eta and reduces DNA synthesis fidelity.
      Title: Primer terminal ribonucleotide alters the active site dynamics of DNA polymerase η and reduces DNA synthesis fidelity.
    4. Human DNA polymerase eta promotes RNA-templated error-free repair of DNA double-strand breaks.
      Title: Human DNA polymerase η promotes RNA-templated error-free repair of DNA double-strand breaks.
    5. Current state of knowledge of human DNA polymerase eta protein structure and disease-causing mutations.
      Title: Current state of knowledge of human DNA polymerase eta protein structure and disease-causing mutations.
    6. Identification of Frameshift Variants in POLH Gene Causing Xeroderma Pigmentosum in Two Consanguineous Pakistani Families.
      Title: Identification of Frameshift Variants in POLH Gene Causing Xeroderma Pigmentosum in Two Consanguineous Pakistani Families.
    7. Manganese Is a Strong Specific Activator of the RNA Synthetic Activity of Human Poleta.
      Title: Manganese Is a Strong Specific Activator of the RNA Synthetic Activity of Human Polη.
    8. 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.
    9. Genetic and physical interactions between Poleta and Rev1 in response to UV-induced DNA damage in mammalian cells.
      Title: Genetic and physical interactions between Polη and Rev1 in response to UV-induced DNA damage in mammalian cells.
    10. Translesion polymerase eta both facilitates DNA replication and promotes increased human genetic variation at common fragile sites.
      Title: Translesion polymerase eta both facilitates DNA replication and promotes increased human genetic variation at common fragile sites.
    Submit: New GeneRIF Correction See all GeneRIFs (143)

    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

    Associated conditions

    Description Tests
    Xeroderma pigmentosum variant type
    MedGen: C1848410 OMIM: 278750 GeneReviews: Xeroderma Pigmentosum
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ16395, FLJ21978

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-directed DNA polymerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-directed DNA polymerase activity TAS
    Traceable Author Statement
    more info
    		  
    enables damaged DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA repair TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in DNA replication IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA synthesis involved in DNA repair IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to UV-C IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in error-free translesion synthesis TAS
    Traceable Author Statement
    more info
    		  
    involved_in error-prone translesion synthesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in pyrimidine dimer repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of DNA repair TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in response to UV-C IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to radiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in replication fork IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in site of double-strand break IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    DNA polymerase eta
    Names
    DNA polymerase eta transcript
    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_047274856.1
    XP_054211646.1

    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.

    Genomic

    1. NG_009252.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001291969.2 → NP_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
      UniProtKB/TrEMBL
      B3KVC6
      Conserved Domains (1) summary
      cl12025
      Location:66 → 304
      PolY; Y-family of DNA polymerases

    2. NM_001291970.2 → NP_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/TrEMBL
      A0A977TKC9
      Related
      ENSP00000361300.1, ENST00000372226.1
      Conserved Domains (1) summary
      cd01702
      Location:10 → 414
      PolY_Pol_eta; DNA Polymerase eta

    3. NM_006502.3 → NP_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
      Q7L8E3, Q96BC4, Q9BX13, Q9Y253
      UniProtKB/TrEMBL
      B3KN75
      Related
      ENSP00000361310.4, ENST00000372236.9
      Conserved Domains (2) summary
      cd01702
      Location:10 → 428
      PolY_Pol_eta; DNA Polymerase eta
      COG0389
      Location:7 → 354
      DinP; Nucleotidyltransferase/DNA polymerase involved in DNA repair [Replication, recombination and repair]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      43576185..43620523
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418900.1 → XP_047274856.1  DNA polymerase eta isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      43404918..43449256
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355671.1 → XP_054211646.1  DNA polymerase eta isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y253.1 GenPept UniProtKB/Swiss-Prot:Q9Y253

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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