Recombinant Human DNA excision repair protein ERCC-6 (ERCC6), Truncated

Uniprot Id

Q03468

Target Species

Human

Target Name

ERCC6

Target Full Name

DNA excision repair protein ERCC-6

Target Function

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 sites of RNA polymerase II-blocking lesions. 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. 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. 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. 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. Required for stable recruitment of ELOA and CUL5 to DNA damage sites. Involved in UV-induced translocation of ERCC8 to the nuclear matrix. Essential for neuronal differentiation and neuritogenesis; regulates transcription and chromatin remodeling activities required during neurogenesis.

Target Involvement

Cockayne syndrome B (CSB); Cerebro-oculo-facio-skeletal syndrome 1 (COFS1); De Sanctis-Cacchione syndrome (DSC); Macular degeneration, age-related, 5 (ARMD5); UV-sensitive syndrome 1 (UVSS1)

Target Subcellular Location

Nucleus.

Target Protein Families

SNF2/RAD54 helicase family

Target Synonyms

4732403I04; ARMD 5; ARMD5; ATP dependent helicase ERCC6; ATP-dependent helicase ERCC6; C130058G22Rik; CKN 2; CKN2; Cockayne syndrome B protein; Cockayne syndrome group B protein; Cockayne syndrome protein CSB; COFS; COFS1; CS group B correcting; CSB; DNA excision repair protein ERCC 6; DNA excision repair protein ERCC-6; ERCC 6; ERCC excision repair 6 chromatin remodeling factor; ERCC6; ERCC6_HUMAN; Excision repair cross complementing rodent repair deficiency; complementation group 6; OTTHUMP00000019581; RAD26; Rad26 homolog; UVSS1

Target Background

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.