ERCC6

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]

Description

ERCC excision repair 6, chromatin remodeling factor

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Nuclear bodies

Predicted location

Intracellular

Protein family

Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

10 (49454168 - 49539538)

Ensembl ID

ENSG00000225830  (ver. 103.38)

Orthologs

Mouse Ercc6: ENSMUSG00000054051

UniProt

Q03468, P0DP91

neXtProt

NX_Q03468, NX_P0DP91

Human splice variants
Mouse splice variants

Protein structure