excision repair cross-complementation group 5

Symbol

ERCC5 (may also be known as: None)

Organism

Human

Description

This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]

Orthologs

SymbolSpecies
xpg-1 Caenorhabditis elegans
mus201 Drosophila melanogaster
ercc5 Danio rerio
Ercc5 Mus musculus
Ercc5 Rattus norvegicus
RAD2 Saccharomyces cerevisiae
rad13 Schizosaccharomyces pombe

Links to external resources

Changes associated with this gene

GO Terms

GO IDGO TermGO Category
GO:0000718 nucleotide-excision repair, DNA damage removal biological_process
GO:0006281 DNA repair biological_process
GO:0006283 transcription-coupled nucleotide-excision repair biological_process
GO:0006289 nucleotide-excision repair biological_process
GO:0006295 nucleotide-excision repair, DNA incision, 3'-to lesion biological_process
GO:0008340 determination of adult lifespan biological_process
GO:0009411 response to UV biological_process
GO:0009650 UV protection biological_process
GO:0010225 response to UV-C biological_process
GO:0035264 multicellular organism growth biological_process
GO:0043066 negative regulation of apoptotic process biological_process
GO:0005634 nucleus cellular_component
GO:0005654 nucleoplasm cellular_component
GO:0005675 holo TFIIH complex cellular_component
GO:0016591 DNA-directed RNA polymerase II, holoenzyme cellular_component
GO:0000405 bubble DNA binding molecular_function
GO:0003677 DNA binding molecular_function
GO:0003690 double-stranded DNA binding molecular_function
GO:0003697 single-stranded DNA binding molecular_function
GO:0003824 catalytic activity molecular_function
GO:0004519 endonuclease activity molecular_function
GO:0004520 endodeoxyribonuclease activity molecular_function
GO:0005515 protein binding molecular_function
GO:0042803 protein homodimerization activity molecular_function
GO:0046872 metal ion binding molecular_function
GO:0047485 protein N-terminus binding molecular_function