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

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: human all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 17 22.9 cM; 17 C

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	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_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

the functions of REV3L in maintaining cell viability, embryonic viability and genomic stability are directly dependent on its polymerase activity, and cannot be ameliorated by an additional deletion of pol eta.
Title: The Polymerase Activity of Mammalian DNA Pol ζ Is Specifically Required for Cell and Embryonic Viability.
XP-V has a role in adipose tissue senescence and metabolic syndrome
Title: Ablation of XP-V gene causes adipose tissue senescence and metabolic abnormalities.
Increase in UV-induced mutations at both G:C and A:T pairs associated with PolH deficiency suggests that PolH contributes to accurate translesion synthesis (TLS) past both T- & C-containing dimers.
Title: UV-induced mutations in epidermal cells of mice defective in DNA polymerase η and/or ι.
POLH deficiency did not affect the frequency and patterns of C:G mutations and UNG POLH double deficiency showed an additive effect of single deficiency.
Title: Analysis of Ig gene hypermutation in Ung(-/-)Polh(-/-) mice suggests that UNG and A:T mutagenesis pathway target different U:G lesions.
REV1 and Polkappa are involved in DNA damage tolerance via Poleta-REV1 interaction when Poleta fails to bypass its cognate substrates.
Title: Stalled Polη at its cognate substrate initiates an alternative translesion synthesis pathway via interaction with REV1.
These results reveal genetic interactions between REV1 catalytic activity and POLH and identify an alternative pathway in the generation of C to G and G to C transversions.
Title: Analysis of mice deficient in both REV1 catalytic activity and POLH reveals an unexpected role for POLH in the generation of C to G and G to C transversions during Ig gene hypermutation.
these data support the existence of PCNA ubiquitination-dependent and -independent activation pathways of Poleta during somatic hypermutation and DNA damage tolerance.
Title: PCNA ubiquitination-independent activation of polymerase η during somatic hypermutation and DNA damage tolerance.
observe upon the simultaneous knockdown of Pols kappa and zeta implicates a highly error-free role of Poleta in TLS opposite cyclobutane pyrimidine dimers in mammalian cells.
Title: Highly error-free role of DNA polymerase eta in the replicative bypass of UV-induced pyrimidine dimers in mouse and human cells.
results demonstrate that POLH is a limiting factor for A:T mutations and contributes to the efficient diversification of Ig genes and affinity maturation of antibodies
Title: DNA polymerase eta is a limiting factor for A:T mutations in Ig genes and contributes to antibody affinity maturation.
Results reveal genetic and biochemical interactions between DNA polymerases eta (POLH) and theta (POLQ) and suggest that POLQ might cooperate with POLH to generate some of the A/T mutations during the somatic hypermutation of Ig genes.
Title: DNA polymerases eta and theta function in the same genetic pathway to generate mutations at A/T during somatic hypermutation of Ig genes.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

Go to the top of the page Help

Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Targeted (4) 1 citation
Chemically induced (ENU) (3)
Endonuclease-mediated (1)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

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
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 damage response	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 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
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

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
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

Go to the top of the page Help

Preferred Names: DNA polymerase eta

Names: DNA-directed DNA polymerase eta; RAD30 homolog A; xeroderma pigmentosum variant type protein homolog

NP_001351876.1

EC 2.7.7.7

NP_109640.1

EC 2.7.7.7

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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)

NM_001364947.1 → NP_001351876.1 DNA polymerase eta isoform 2

Status: VALIDATED

Source sequence(s)

AC116739, BC128366, CJ048830

UniProtKB/TrEMBL

I6L9K1

Conserved Domains (1) summary

cl25410
Location:66 → 304

PolY; Y-family of DNA polymerases
NM_030715.4 → NP_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:10 → 427

PolY_Pol_eta; DNA Polymerase eta

COG0389
Location:7 → 325

DinP; Nucleotidyltransferase/DNA polymerase involved in DNA repair [Replication, recombination and repair]