ERCC4
entrez
2072
canonical
uniprot
Q92889
canonical
ensembl
ENSG00000175595
resolver
ensp
ENSP00000310520
resolver
ensp
ENSP00000507912
resolver
enst
ENST00000682617
resolver
genesymbol
ERCC4
resolver
genesymbol_syn
ERCC11
resolver
genesymbol_syn
XPF
resolver
hgnc
HGNC:3436
resolver
uniprot
A0A1W1GSK9
resolver
uniprot
A0A804HKF9
resolver
uniprot
A5PKV6
resolver
uniprot
A8K111
resolver
uniprot
B4DXD8
resolver
uniprot
O00140
resolver
uniprot
Q8TD83
resolver
uniprot_entry
A0A1W1GSK9_HUMAN
resolver
uniprot_entry
A0A804HKF9_HUMAN
resolver
uniprot_entry
B4DXD8_HUMAN
resolver
uniprot_entry
XPF_HUMAN
resolver
uniprot_sec
A5PKV6
resolver
uniprot_sec
A8K111
resolver
uniprot_sec
O00140
resolver
uniprot_sec
Q8TD83
resolver
amino_acid_sequence
MESGQPARRIAMAPLLEYERQLVLELLDTDGLVVCARGLGADRLLYHFLQLHCHPACLVLVLNTQPAEEEYFINQLKIEGVEHLPRRVTNEITSNSRYEVYTQGGVIFATSRILVVDFLTDRIPSDLITGILVYRAHRIIESCQEAFILRLFRQKNKRGFIKAFTDNAVAFDTGFCHVERVMRNLFVRKLYLWPRFHVAVNSFLEQHKPEVVEIHVSMTPTMLAIQTAILDILNACLKELKCHNPSLEVEDLSLENAIGKPFDKTIRHYLDPLWHQLGAKTKSLVQDLKILRTLLQYLSQYDCVTFLNLLESLRATEKAFGQNSGWLFLDSSTSMFINARARVYHLPDAKMSKKEKISEKMEIKEGEETKKELVLESNPKWEALTEVLKEIEAENKESEALGGPGQVLICASDDRTCSQLRDYITLGAEAFLLRLYRKTFEKDSKAEEVWMKFRKEDSSKRIRKSHKRPKDPQNKERASTKERTLKKKKRKLTLTQMVGKPEELEEEGDVEEGYRREISSSPESCPEEIKHEEFDVNLSSDAAFGILKEPLTIIHPLLGCSDPYALTRVLHEVEPRYVVLYDAELTFVRQLEIYRASRPGKPLRVYFLIYGGSTEEQRYLTALRKEKEAFEKLIREKASMVVPEEREGRDETNLDLVRGTASADVSTDTRKAGGQEQNGTQQSIVVDMREFRSELPSLIHRRGIDIEPVTLEVGDYILTPEMCVERKSISDLIGSLNNGRLYSQCISMSRYYKRPVLLIEFDPSKPFSLTSRGALFQEISSNDISSKLTLLTLHFPRLRILWCPSPHATAELFEELKQSKPQPDAATALAITADSETLPESEKYNPGPQDFLLKMPGVNAKNCRSLMHHVKNIAELAALSQDELTSILGNAANAKQLYDFIHTSFAEVVSKGKGKK
uniprot
proteins
disease_involvement
DISEASE: Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-F patients show a mild phenotype. {ECO:0000269|PubMed:10447254, ECO:0000269|PubMed:8797827, ECO:0000269|PubMed:9579555, ECO:0000269|PubMed:9580660}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: XFE progeroid syndrome (XFEPS) [MIM:610965]: A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. {ECO:0000269|PubMed:17183314}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Xeroderma pigmentosum type F/Cockayne syndrome (XPF/CS) [MIM:278760]: A variant form of Cockayne syndrome, a disorder characterized by growth retardation, microcephaly, impairment of nervous system development, pigmentary retinopathy, peculiar facies, and progeria together with abnormal skin photosensitivity. Cockayne syndrome dermatological features are milder than those in xeroderma pigmentosum and skin cancers are not found in affected individuals. XPF/CS patients, however, present with severe skin phenotypes, including severe photosensitivity, abnormal skin pigmentation, and skin cancer predisposition. {ECO:0000269|PubMed:23623389}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Fanconi anemia complementation group Q (FANCQ) [MIM:615272]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. {ECO:0000269|PubMed:23623386, ECO:0000269|PubMed:24027083}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.-.-
uniprot
proteins
function
FUNCTION: Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair, and which is essential for nucleotide excision repair (NER) and interstrand cross-link (ICL) repair. {ECO:0000269|PubMed:10413517, ECO:0000269|PubMed:11790111, ECO:0000269|PubMed:19596235, ECO:0000269|PubMed:24027083, ECO:0000269|PubMed:32034146, ECO:0000269|PubMed:8797827}.
uniprot
proteins
mass_dalton
104486
uniprot
proteins
mutagenesis
MUTAGEN 911; /note="K->Q: Mimics acetylation; promoting interaction with ERCC1."; /evidence="ECO:0000269|PubMed:32034146"; MUTAGEN 911; /note="K->R: Abolished acetylation by KAT5, leading to decreased interaction with ERCC1."; /evidence="ECO:0000269|PubMed:32034146
uniprot
proteins
post_translational_modification
PTM: Acetylation at Lys-911 by KAT5 promotes interaction with ERCC1 by disrupting a salt bridge between Glu-907 and Lys-911, thereby exposing a second binding site for ERCC1 (PubMed:32034146). Deacetylated by SIRT1 (PubMed:32034146). {ECO:0000269|PubMed:32034146}.
uniprot
proteins
protein_family
XPF family
uniprot
proteins
pubmed
10413517
uniprot
proteins
pubmed
10447254
uniprot
proteins
pubmed
10479728
uniprot
proteins
pubmed
11790111
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
16076955
uniprot
proteins
pubmed
16338413
uniprot
proteins
pubmed
17183314
uniprot
proteins
pubmed
19595721
uniprot
proteins
pubmed
19595722
uniprot
proteins
pubmed
19596235
uniprot
proteins
pubmed
19596236
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23623386
uniprot
proteins
pubmed
23623389
uniprot
proteins
pubmed
24027083
uniprot
proteins
pubmed
25538220
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
32034146
uniprot
proteins
pubmed
8797827
uniprot
proteins
pubmed
8887684
uniprot
proteins
pubmed
9485007
uniprot
proteins
pubmed
9579555
uniprot
proteins
pubmed
9580660
uniprot
proteins
sequence_length
916
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19596235}. Chromosome {ECO:0000269|PubMed:11790111}. Note=Localizes to sites of DNA damage. {ECO:0000269|PubMed:11790111}.
uniprot
proteins