ERCC4
Sign in to saveAlso known as ERCC11, FANCQ, RAD1, XPF, XFEPS, excision repair cross-complementation group 4, ERCC excision repair 4, endonuclease catalytic subunit, RAD1 checkpoint DNA exonuclease
ERCC4 is a protein designated as DNA repair endonuclease XPF that in humans is encoded by the ERCC4 gene. Together with ERCC1, ERCC4 forms the ERCC1-XPF enzyme complex that participates in DNA repair and DNA recombination.
Gene data
ERCC4- Name
- ERCC excision repair 4, endonuclease catalytic subunit
- Type
- protein-coding
- Position
- 13,920,138–13,952,348 (+)
- Aliases
- ERCC11, FANCQ, RAD1, XFEPS, XPF
- Ensembl
- ENSG00000175595
- RefSeq RNA
- NM_005236.3, XM_011522424.4, XM_011522427.2, XM_047433774.1, XM_054379810.1
- RefSeq protein
- NP_005227.1, XP_011520726.1, XP_011520729.1, XP_047289730.1, XP_054235785.1
The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
ERCC excision repair 4, endonuclease catalytic subunit
- Symbol
- ERCC4
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 16:13,920,138-13,952,348
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- protein
- Image
- Protein ERCC4 PDB 1z00.png
Show 10 more facts
- HomoloGene ID
- 3836
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/2072
- genomic end
- 13952348
- genomic start
- 13920138
- chromosome
- human chromosome 16
- cytogenetic location
- 16p13.12
- expressed in
- sural nerve
- EC enzyme number
- 3.1.11.2
- cell component
- nucleus
via Wikidata · CC0
~14 min read
Encyclopedic overview
15 sectionsContents
- Gene
- Protein
- Structure-specific nuclease
- Nucleotide excision repair (NER)
- DNA double-strand break (DSB) repair
- Interstrand crosslinks repair
- Clinical significance
- Xeroderma pigmentosum (XP)
- Cockayne syndrome (CS)
- Fanconi anemia
- ERCC4 (XPF) in the normal [[Large intestine|colon]]
- ERCC4 (XPF) deficiency in the colon epithelium adjacent to and within cancers
- Notes
- References
- External links
ERCC4 is a protein designated as DNA repair endonuclease XPF that in humans is encoded by the ERCC4 gene. Together with ERCC1, ERCC4 forms the ERCC1-XPF enzyme complex that participates in DNA repair and DNA recombination.
The nuclease enzyme ERCC1-XPF cuts specific structures of DNA. Many aspects of these two gene products are described together here because they are partners during DNA repair. The ERCC1-XPF nuclease is an essential activity in the pathway of DNA nucleotide excision repair (NER). The ERCC1-XPF nuclease also functions in pathways to repair double-strand breaks in DNA, and in the repair of "crosslink" damage that harmfully links the two DNA strands.
Excerpted from Wikipedia’s “ERCC4” article, available under the CC BY-SA 4.0 licence.