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 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; chr6:43543878-43588260 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human POLH

Alleles and phenotypes

All alleles(13) : Targeted(6) Gene trapped(7)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (16 annotations)

Process	DNA repair, DNA replication, ...
Component	cytoplasm, 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 Type	Results
Northern blot	14

cDNA source data(13)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(13) cDNA(13)
Microarray probesets(3)

Other database links

Ensembl Gene Model	ENSMUSG00000023953 (Evidence)
Entrez Gene	80905 (Evidence)
UniGene	311585
DFCI	TC1585238, TC1705459
DoTS	DT.55187682
NIA Mouse Gene Index	U037848
EC	2.7.7.7
Consensus CDS Project	CCDS28822.1
International Mouse Knockout Project Status	Polh

Sequences

Length	Strain/Species
genomic	ENSMUSG00000023953	Ensembl Gene Model | MGI Sequence Detail	30622	C57BL/6J
transcript	ENSMUST00000024749	Ensembl | MGI Sequence Detail	2569	Not Applicable
polypeptide	ENSMUSP00000024749	Ensembl | MGI Sequence Detail	694	Not Applicable

All sequences(17) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(33 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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(44)