InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ERCC5

Summary

InnateDB Protein

IDBP-49167.6

Last Modified

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

Gene Symbol

ERCC5

Protein Name

excision repair cross-complementing rodent repair deficiency, complementation group 5

Synonyms

COFS3; ERCC5-201; ERCM2; UVDR; XPG; XPGC;

Species

Homo sapiens

Ensembl Protein

ENSP00000347978

InnateDB Gene

IDBG-49163 (ERCC5)

Protein Structure

UniProt Annotation

Function

Single-stranded structure-specific DNA endonuclease involved in DNA excision repair. Makes the 3'incision in DNA nucleotide excision repair (NER). Acts as a cofactor for a DNA glycosylase that removes oxidized pyrimidines from DNA. May also be involved in transcription-coupled repair of this kind of damage, in transcription by RNA polymerase II, and perhaps in other processes too.

Subcellular Localization

Nucleus {ECO:0000269PubMed:7651464}.

Disease Associations

Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]: 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. The skin develops marked freckling and other pigmentation abnormalities. Some XP-G patients present features of Cockayne syndrome, cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex. {ECO:0000269PubMed:11228268, ECO:0000269PubMed:11841555, ECO:0000269PubMed:12060391, ECO:0000269PubMed:7951246, ECO:0000269PubMed:9096355}. 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 27 experimentally validated interaction(s) in this database.

Experimentally validated
Total	27 [view]
Protein-Protein	26 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000405	bubble DNA binding
GO:0003677	DNA binding
GO:0003690	double-stranded DNA binding
GO:0003697	single-stranded DNA binding
GO:0003824	catalytic activity
GO:0004518	nuclease activity
GO:0004519	endonuclease activity
GO:0004520	endodeoxyribonuclease activity
GO:0005515	protein binding
GO:0042803	protein homodimerization activity
GO:0046872	metal ion binding
GO:0047485	protein N-terminus binding

Biological Process

GO:0000718	nucleotide-excision repair, DNA damage removal
GO:0000737	DNA catabolic process, endonucleolytic
GO:0006281	DNA repair
GO:0006283	transcription-coupled nucleotide-excision repair
GO:0006289	nucleotide-excision repair
GO:0006295	nucleotide-excision repair, DNA incision, 3'-to lesion
GO:0009411	response to UV
GO:0009650	UV protection
GO:0010225	response to UV-C
GO:0043066	negative regulation of apoptotic process

Cellular Component

GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005662	DNA replication factor A complex
GO:0005675	holo TFIIH complex
GO:0016591	DNA-directed RNA polymerase II, holoenzyme
GO:0045111	intermediate filament cytoskeleton

Protein Structure and Domains

PDB ID

InterPro

IPR001044 XPG/Rad2 endonuclease, eukaryotes
IPR006085 XPG N-terminal
IPR006086 XPG-I domain
IPR008918 Helix-hairpin-helix motif, class 2
IPR020045 5\'-3\' exonuclease, C-terminal domain
IPR029060 PIN domain-like

PFAM

PF00752
PF00867
PF01367
PF09293

PRINTS

PR00066

PIRSF

SMART

SM00485
SM00484
SM00279

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt