Aliases for ERCC6 Gene
- ERCC Excision Repair 6, Chromatin Remodeling Factor 2 3 5
- CSB 2 3 4
- Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 6 2 3
- Excision Repair Cross-Complementation Group 6 2 3
- DNA Excision Repair Protein ERCC-6 3 4
- Cockayne Syndrome Protein CSB 3 4
- ATP-Dependent Helicase ERCC6 3 4
- Chimeric ERCC6-PGBD3 Protein 3 4
- Chimeric CSB-PGBD3 Protein 3 4
- ARMD5 2 3
- RAD26 2 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 Cockayne Syndrome B and Cerebrooculofacioskeletal Syndrome 1. Among its related pathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and DNA Double-Strand Break Repair. Gene Ontology (GO) annotations related to this gene include chromatin binding and protein C-terminus binding. An important paralog of this gene is CHD2.
UniProtKB/Swiss-Prot Summary 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 (PubMed:20541997, PubMed:26620705). 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 (PubMed:15548521). It is required for transcription-coupled repair complex formation (PubMed:16916636). It recruits the CSA complex (DCX(ERCC8) complex), nucleotide excision repair proteins and EP300 to the sites of RNA polymerase II-blocking lesions (PubMed:16916636). Plays an important role in regulating the choice of the DNA double-strand breaks (DSBs) repair pathway and G2/M checkpoint activation; DNA-dependent ATPase activity is essential for this function (PubMed:25820262). Regulates the DNA repair pathway choice by inhibiting non-homologous end joining (NHEJ), thereby promoting the homologous recombination (HR)-mediated repair of DSBs during the S/G2 phases of the cell cycle (PubMed:25820262). Mediates the activation of the ATM- and CHEK2-dependent DNA damage responses thus preventing premature entry of cells into mitosis following the induction of DNA DSBs (PubMed:25820262). Acts as a chromatin remodeler at DSBs; DNA-dependent ATPase-dependent activity is essential for this function. Remodels chromatin by evicting histones from chromatin flanking DSBs, limiting RIF1 accumulation at DSBs thereby promoting BRCA1-mediated HR (PubMed:29203878). Required for stable recruitment of ELOA and CUL5 to DNA damage sites (PubMed:28292928). Involved in UV-induced translocation of ERCC8 to the nuclear matrix (PubMed:26620705). Essential for neuronal differentiation and neuritogenesis; regulates transcription and chromatin remodeling activities required during neurogenesis (PubMed:24874740).
Involved in repair of DNA damage following UV irradiation, acting either in the absence of ERCC6 or synergistically with ERCC6. Involved in the regulation of gene expression. In the absence of ERCC6, induces the expression of genes characteristic of interferon-like antiviral responses. This response is almost completely suppressed in the presence of ERCC6. In the presence of ERCC6, regulates the expression of genes involved in metabolism regulation, including IGFBP5 and IGFBP7. In vitro binds to PGBD3-related transposable elements, called MER85s; these non-autonomous 140 bp elements are characterized by the presence of PGBD3 terminal inverted repeats and the absence of internal transposase ORF.