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
excision repair cross-complementing rodent repair deficiency, complementation group 6
excision repair cross-complementing rodent repair deficiency, complementation group 6
excision repair cross-complementation group 6
excision repair cross-complementation group 6
excision repair cross-complementation group 6
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
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0008023 transcription elongation factor complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Transcription-coupled NER (TC-NER) pathway
RNA Polymerase I Transcription pathway
RNA Polymerase I Promoter Clearance pathway
Dual incision reaction in TC-NER pathway
RNA Polymerase I Transcription Initiation pathway
RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription pathway
Formation of transcription-coupled NER (TC-NER) repair complex pathway
Nucleotide Excision Repair pathway
Gene Expression pathway
DNA Repair pathway
KEGG
Nucleotide excision repair pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL F5H493
UniProt Splice Variant
Entrez Gene 2074
UniGene
RefSeq NM_000124
HUGO HGNC:3438
OMIM 609413
CCDS CCDS7229
HPRD
IMGT
EMBL AC073366 AL138760
GenPept
RNA Seq Atlas 2074