InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: POLH

Summary

InnateDB Protein

IDBP-88506.6

Last Modified

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

Gene Symbol

POLH

Protein Name

polymerase (DNA directed), eta

Synonyms

RAD30; RAD30A; XP-V; XPV;

Species

Homo sapiens

Ensembl Protein

ENSP00000361310

InnateDB Gene

IDBG-88504 (POLH)

Protein Structure

UniProt Annotation

Function

DNA polymerase specifically involved in DNA repair. Plays an important role in translesion synthesis, where the normal high fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Plays an important role in the repair of UV-induced pyrimidine dimers. Depending on the context, it inserts the correct base, but causes frequent base transitions and transversions. May play a role in hypermutation at immunoglobulin genes. Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but does not have lyase activity. Targets POLI to replication foci. {ECO:0000269PubMed:10385124, ECO:0000269PubMed:11376341, ECO:0000269PubMed:11743006, ECO:0000269PubMed:14630940, ECO:0000269PubMed:14734526}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:12606586}. Note=Accumulates at replication forks after DNA damage.

Disease Associations

Xeroderma pigmentosum variant type (XPV) [MIM:278750]: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. XPV shows normal nucleotide excision repair, but an exaggerated delay in recovery of replicative DNA synthesis. Most patients with the variant type of xeroderma pigmentosum do not develop clinical symptoms and skin neoplasias until a later age. Clinical manifestations are limited to photo-induced deterioration of the skin and eyes. {ECO:0000269PubMed:10385124, ECO:0000269PubMed:10398605, ECO:0000269PubMed:11032022, ECO:0000269PubMed:11121129, ECO:0000269PubMed:11773631, ECO:0000269PubMed:24130121}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR001126 DNA-repair protein, UmuC-like
IPR017061 DNA polymerase eta
IPR017961 DNA polymerase, Y-family, little finger domain
IPR017963 DNA-repair protein, UmuC-like, N-terminal

PFAM

PF00817
PF11799

PRINTS

PIRSF

PIRSF036603

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9Y253