ERCC6
Sign in to saveAlso known as ARMD5, CKN2, COFS, COFS1, CSB, RAD26, UVSS1, POF11
DNA excision repair protein ERCC-6 (also CS-B protein) is a protein that in humans is encoded by the ERCC6 gene. The ERCC6 gene is located on the long arm of chromosome 10 at position 11.23.
Gene data
ERCC6- Name
- ERCC excision repair 6, chromatin remodeling factor
- Type
- protein-coding
- Position
- 49,454,168–49,539,538 (−)
- Aliases
- ARMD5, CKN2, COFS, COFS1, CSB, CSB-PGBD3, POF11, RAD26, UVSS1
- Ensembl
- ENSG00000225830
- RefSeq RNA
- NM_000124.4, NM_001277058.2, NM_001277059.2, NM_001346440.2
- RefSeq protein
- NP_000115.1, NP_001263987.1, NP_001263988.1, NP_001333369.1
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].
Gene Ontology
Biological process
Molecular function
Cellular component
Pathways
via MyGene.info
Gene · Ensembl
ERCC excision repair 6, chromatin remodeling factor
- Symbol
- ERCC6
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 10:49,454,168-49,539,538
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- ERCC6 protein.png
Show 4 more facts
- exact match
- identifiers.org/ncbigene/2074
- HomoloGene ID
- 133552
- chromosome
- human chromosome 10
- found in taxon
- Homo sapiens
via Wikidata · CC0
~8 min read
Encyclopedic overview
10 sectionsContents
- Function
- Structure and mechanism
- Interactions
- Neurogenesis and neural differentiation
- Cockayne syndrome
- DNA repair
- Implications in cancer
- References
- Further reading
- External links
DNA excision repair protein ERCC-6 (also CS-B protein) is a protein that in humans is encoded by the ERCC6 gene. The ERCC6 gene is located on the long arm of chromosome 10 at position 11.23.
Having 1 or more copies of a mutated ERCC6 causes Cockayne syndrome, type II.
Excerpted from Wikipedia’s “ERCC6” article, available under the CC BY-SA 4.0 licence.