InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: POLH

Summary

InnateDB Gene

IDBG-88504.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

POLH

Gene Name

polymerase (DNA directed), eta

Synonyms

RAD30; RAD30A; XP-V; XPV

Species

Homo sapiens

Ensembl Gene

ENSG00000170734

Encoded Proteins

IDBP-88506

polymerase (DNA directed), eta

IDBP-88508

polymerase (DNA directed), eta

IDBP-380102

polymerase (DNA directed), eta

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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. [provided by RefSeq, Jul 2008]
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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 6:43576150-43615660

Strand

Forward strand

Band

p21.1

Transcripts

ENST00000372236	ENSP00000361310
ENST00000372226	ENSP00000361300
ENST00000443535	ENSP00000405320

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 48 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	48 [view]
Protein-Protein	44 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	2 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003684	damaged DNA binding
GO:0003887	DNA-directed DNA polymerase activity
GO:0005515	protein binding
GO:0046872	metal ion binding

Biological Process

GO:0000731	DNA synthesis involved in DNA repair
GO:0006261	DNA-dependent DNA replication
GO:0006281	DNA repair
GO:0006282	regulation of DNA repair
GO:0006290	pyrimidine dimer repair
GO:0006301	postreplication repair
GO:0010225	response to UV-C

Cellular Component

GO:0005654

nucleoplasm

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000023953

View Gene Order

ENSBTAG00000006015

Not yet available

Pathways

NETPATH

REACTOME

REACT_1287

Translesion synthesis by Pol eta pathway

REACT_2198

Translesion synthesis by DNA polymerases bypassing lesion on DNA template pathway

REACT_2174

DNA Damage Bypass pathway

REACT_216

DNA Repair pathway

KEGG

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

Q5JTF2

UniProt Splice Variant

Entrez Gene

5429

UniGene

Hs.655467

RefSeq

NM_001291970 NM_006502 XM_005249186 XM_006715118

HUGO

HGNC:9181

OMIM

603968

CCDS

CCDS4902

HPRD

04913

IMGT

EMBL

AL353602 AL355802

GenPept

RNA Seq Atlas

5429