Aliases for ERCC6 Gene
- ERCC Excision Repair 6, Chromatin Remodeling Factor 2 3 5
- Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 6 2 3
- Excision Repair Cross-Complementation Group 6 2 3
- Cockayne Syndrome Protein CSB 3 4
- ATP-Dependent Helicase ERCC6 3 4
- CSB 3 4
- DNA Excision Repair Protein ERCC-6 3
- Cockayne Syndrome Group B Protein 3
- Cockayne Syndrome B Protein 2
- ERCC6-PGBD3 Fusion Protein 3
External Ids for ERCC6 Gene
Previous HGNC Symbols for ERCC6 Gene
Previous GeneCards Identifiers for ERCC6 Gene
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. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016]
GeneCards Summary for ERCC6 Gene
ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor) is a Protein Coding gene. Diseases associated with ERCC6 include Cerebrooculofacioskeletal Syndrome 1 and Cockayne Syndrome, Type B. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Nucleotide excision repair. GO annotations related to this gene include chromatin binding and protein C-terminus binding. An important paralog of this gene is ERCC6L.
UniProtKB/Swiss-Prot for ERCC6 Gene
Essential factor involved in transcription-coupled nucleotide excision repair which allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes. Upon DNA-binding, it locally modifies DNA conformation by wrapping the DNA around itself, thereby modifying the interface between stalled RNA polymerase II and DNA. It is required for transcription-coupled repair complex formation. It recruits the CSA complex (DCX(ERCC8) complex), nucleotide excision repair proteins and EP300 to the at sites of RNA polymerase II-blocking lesions.
Isoform 2: Like isoform 1, it is involved in repair of DNA damage, acting on its own or synergistically with isoform 1. May bind to PiggyBac transposable elements known as MER85 scattered in the genome and may therefore regulate the expression of nearby genes. Able to stimulate the antiviral response and modulate the expression of genes involved in metabolism regulation.