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.
In the Vinony graph
Vinony's link graph records 73 inbound references to ERCC4, and connects out to Wikidata, PubMed and DNA repair.
It sits within the topics Genes on human chromosome 5 and Human proteins.
Vinony links it to 7 Wikipedia language editions.
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
Protein · UniProt
Cell cycle checkpoint protein RAD1
- Gene
- RAD1
- Organism
- Homo sapiens (Human)
- Length
- 282 aa
- Molecular mass
- 31,827 Da
- Evidence
- 1: Evidence at protein level
Component of the 9-1-1 cell-cycle checkpoint response complex that plays a major role in DNA repair (PubMed:10846170, PubMed:10884395). The 9-1-1 complex is recruited to DNA lesion upon damage by the RAD17-replication factor C (RFC) clamp loader complex (PubMed:12578958). Acts then as a sliding clamp platform on DNA for several proteins involved in long-patch base excision repair (LP-BER) (PubMed:15871698). The 9-1-1 complex stimulates DNA polymerase beta (POLB) activity by increasing its affinity for the 3'-OH end of the primer-template and stabilizes POLB to those sites where LP-BER proce…
Swiss-Prot (reviewed) · via UniProt
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.