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Polh polymerase (DNA directed), eta (RAD 30 related) [ Mus musculus (house mouse) ]

Gene ID: 80905, updated on 5-Jan-2023

Summary

Official Symbol
Polhprovided by MGI
Official Full Name
polymerase (DNA directed), eta (RAD 30 related)provided by MGI
Primary source
MGI:MGI:1891457
See related
Ensembl:ENSMUSG00000023953 AllianceGenome:MGI:1891457
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
XPV; RAD30A
Summary
Enables DNA-directed DNA polymerase activity. Acts upstream of or within cellular response to UV-C; postreplication repair; and pyrimidine dimer repair. Predicted to be located in cytosol and nucleoplasm. Predicted to be active in nucleus; replication fork; and site of double-strand break. Is expressed in several structures, including genitourinary system; heart; hemolymphoid system gland; liver; and lung. Used to study xeroderma pigmentosum variant type. Human ortholog(s) of this gene implicated in xeroderma pigmentosum variant type. Orthologous to human POLH (DNA polymerase eta). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in liver E14 (RPKM 6.4), liver E14.5 (RPKM 6.3) and 28 other tissues See more
Orthologs
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Genomic context

See Polh in Genome Data Viewer
Location:
17; 17 C
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (46482281..46513567, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (46171355..46202641, complement)

Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene MAD2L1 binding protein Neighboring gene GTP binding protein 2 Neighboring gene exportin 5 Neighboring gene predicted gene, 22474 Neighboring gene microRNA 693

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (4)  1 citation
  • Endonuclease-mediated (1) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
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 damaged DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables nucleotidyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within DNA biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within DNA repair IEA
Inferred from Electronic Annotation
more info
 
involved_in DNA repair IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within DNA replication IEA
Inferred from Electronic Annotation
more info
 
involved_in DNA synthesis involved in DNA repair ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within cellular response to DNA damage stimulus IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cellular response to UV-C IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within cellular response to UV-C IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in error-prone translesion synthesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within postreplication repair IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within pyrimidine dimer repair IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to UV-C ISO
Inferred from Sequence Orthology
more info
 
involved_in response to radiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in replication fork IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in site of double-strand break IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
DNA polymerase eta
Names
DNA-directed DNA polymerase eta
RAD30 homolog A
xeroderma pigmentosum variant type protein homolog
NP_001351876.1
NP_109640.1

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_001364947.1NP_001351876.1  DNA polymerase eta isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC116739, BC128366, CJ048830
    Conserved Domains (1) summary
    cl25410
    Location:66304
    PolY; Y-family of DNA polymerases
  2. NM_030715.4NP_109640.1  DNA polymerase eta isoform 1

    See identical proteins and their annotated locations for NP_109640.1

    Status: VALIDATED

    Source sequence(s)
    AC116739, AK036296, CJ048830
    Consensus CDS
    CCDS28822.1
    UniProtKB/Swiss-Prot
    Q9JJJ2, Q9JJN0
    Related
    ENSMUSP00000024749.8, ENSMUST00000024749.9
    Conserved Domains (2) summary
    cd01702
    Location:10427
    PolY_Pol_eta; DNA Polymerase eta
    COG0389
    Location:7325
    DinP; Nucleotidyltransferase/DNA polymerase involved in DNA repair [Replication, recombination and repair]

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000083.7 Reference GRCm39 C57BL/6J

    Range
    46482281..46513567 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)