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Polh
Gene Detail
 Symbol
Name
ID
Polh
polymerase (DNA directed), eta (RAD 30 related)
MGI:1891457
Synonyms RAD30A
Feature Type protein coding gene
Genetic Map
Chromosome 17
22.90 cM, cytoband C
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr17:46172004-46202625 bp, - strand
From Ensembl annotation of GRCm38

  30622 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:38189  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: DNA polymerase eta
Gene Tree: Polh

Human
homologs
Human Homolog POLH, polymerase (DNA directed), eta
NCBI Gene ID 5429
neXtProt AC  NX_Q9Y253
Human Synonyms  RAD30, RAD30A, XPV, XP-V
Human Chr (Location)  6p21.1; chr6:43576141-43620523 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human POLH
Mutations,
alleles, and
phenotypes
All mutations/alleles(13) : Gene trapped(7) Targeted(6)
Incidental mutations (data from APF )
 
Homozygous inactivation of this gene causes increased susceptibility to UV-induced skin tumors and results in reduced immunoglobulin gene mutations at A-T base pairs with a G-C biased mutation pattern.
 
Human Diseases Modeled Using Mouse Polh (1)    Alleles Annotated to Human Diseases(3)   
Interactions
Polh interacts with 50 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (17 annotations)
Process cellular response to DNA damage stimulus, DNA biosynthetic process, ...
Component nucleus
Function damaged DNA binding, DNA binding, ...
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (14)    Tissues (10)   
Theiler Stages: 28
Assay TypeResults
Northern blot 14
cDNA source data(13)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(13) cDNA(13)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000023953 (Evidence)
Entrez Gene80905 (Evidence)
UniGene311585
DFCITC1585238, TC1705459
DoTSDT.55187682
NIA Mouse Gene IndexU037848
EC2.7.7.7
Consensus CDS ProjectCCDS28822.1
International Mouse Knockout Project StatusPolh
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000023953 Ensembl Gene Model | MGI Sequence Detail 30622 C57BL/6J ±  kb
transcript ENSMUST00000024749 Ensembl | MGI Sequence Detail 2569 Not Applicable 
polypeptide ENSMUSP00000024749 Ensembl | MGI Sequence Detail 694 Not Applicable 

For the selected sequences
All sequences(19) RefSeq(4) UniProt(2)
Polymorphisms SNPs within 2kb(56 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR017061 DNA polymerase eta
InterPro IPR017961 DNA polymerase, Y-family, little finger domain
InterPro IPR001126 DNA-repair protein, UmuC-like
InterPro IPR017963 DNA-repair protein, UmuC-like, N-terminal
Protein Ontology PR:000012975 DNA polymerase eta
References (Earliest) J:63288 Yamada A, et al., Complementation of defective translesion synthesis and UV light sensitivity in xeroderma pigmentosum variant cells by human and mouse DNA polymerase eta. Nucleic Acids Res. 2000 Jul 1;28(13):2473-80
(Latest) J:193520 Brun J, et al., Oncolytic Vaccinia virus safely and effectively treats skin tumors in mouse models of xeroderma pigmentosum. Int J Cancer. 2013 Feb 1;132(3):726-31
All references(45)
Disease annotation references (3)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/23/2014
MGI 5.19
The Jackson Laboratory