InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: ERCC6

Summary

InnateDB Gene

IDBG-304121.4

Last Modified

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

Gene Symbol

ERCC6

Gene Name

excision repair cross-complementing rodent repair deficiency, complementation group 6

Synonyms

ARMD5; CKN2; COFS; COFS1; CSB; RAD26; UVSS1

Species

Homo sapiens

Ensembl Gene

ENSG00000225830

Encoded Proteins

IDBP-73925

excision repair cross-complementing rodent repair deficiency, complementation group 6

IDBP-482838

excision repair cross-complementing rodent repair deficiency, complementation group 6

IDBP-813171

excision repair cross-complementation group 6

IDBP-813178

excision repair cross-complementation group 6

IDBP-813180

excision repair cross-complementation group 6

IDBP-813185

excision repair cross-complementation group 6

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Naturally-occurring readthrough transcription occurs between this gene and the adjacent PGBD3 gene (GeneID:267004), and results in a fusion protein that shares sequence with the product of each individual gene. The readthrough locus is represented by GeneID:101243544. [provided by RefSeq, Mar 2013]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 10:49455368-49539538

Strand

Reverse strand

Band

q11.23

Transcripts

ENST00000355832	ENSP00000348089
ENST00000465653
ENST00000475116
ENST00000479652
ENST00000462247	ENSP00000422827
ENST00000624341	ENSP00000485163
ENST00000623073	ENSP00000485650
ENST00000623115	ENSP00000485321
ENST00000623318	ENSP00000485423
ENST00000623788

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 50 experimentally validated interaction(s) in this database.

Experimentally validated
Total	50 [view]
Protein-Protein	49 [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:0003677	DNA binding
GO:0003682	chromatin binding
GO:0004386	helicase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008022	protein C-terminus binding
GO:0008094	DNA-dependent ATPase activity
GO:0032403	protein complex binding
GO:0047485	protein N-terminus binding

Biological Process

GO:0000303	response to superoxide
GO:0006200	ATP catabolic process
GO:0006281	DNA repair
GO:0006283	transcription-coupled nucleotide-excision repair
GO:0006284	base-excision repair
GO:0006289	nucleotide-excision repair
GO:0006290	pyrimidine dimer repair
GO:0006362	transcription elongation from RNA polymerase I promoter
GO:0006366	transcription from RNA polymerase II promoter
GO:0006974	cellular response to DNA damage stimulus
GO:0006979	response to oxidative stress
GO:0007256	activation of JNKK activity
GO:0007257	activation of JUN kinase activity
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage
GO:0009411	response to UV
GO:0009636	response to toxic substance
GO:0010165	response to X-ray
GO:0010224	response to UV-B
GO:0010332	response to gamma radiation
GO:0032784	regulation of DNA-templated transcription, elongation
GO:0032786	positive regulation of DNA-templated transcription, elongation
GO:0035264	multicellular organism growth
GO:0045494	photoreceptor cell maintenance