InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: ERCC5

Summary

InnateDB Gene

IDBG-49163.7

Last Modified

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

Gene Symbol

ERCC5

Gene Name

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

Synonyms

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

Species

Homo sapiens

Ensembl Gene

ENSG00000134899

Encoded Proteins

IDBP-49167

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

IDBP-49177

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

IDBP-602200

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

IDBP-595513

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

IDBP-812126

excision repair cross-complementation group 5

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This locus represents naturally occurring read-through transcription between the neighboring BIVM (basic, immunoglobulin-like variable motif containing) and ERCC5 (excision repair cross-complementing rodent repair deficiency, complementation group 5) genes on chromosome 13. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Feb 2011] 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]
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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 13:102844844-102876001

Strand

Forward strand

Band

q33.1

Transcripts

ENST00000355739	ENSP00000347978
ENST00000375958
ENST00000375954	ENSP00000365121
ENST00000472151	ENSP00000436083
ENST00000481099
ENST00000472247
ENST00000535557	ENSP00000442117
ENST00000610537	ENSP00000478667

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