Reactome | UniProt:Q92889 ERCC4

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UniProt:Q92889 ERCC4 Show undefined attributes

chain	chain:1-916
checksum	C58CDE900378CCA8
comment	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.COFACTOR Heterodimer composed of ERCC1 and ERCC4/XPF (PubMed:10413517, PubMed:16076955, PubMed:16338413, PubMed:25538220, PubMed:32034146). Interacts with SLX4/BTBD12; this interaction is direct and links the ERCC1-ERCC4/XPF complex to SLX4, which may coordinate the action of the structure-specific endonuclease during DNA repair (PubMed:19595721, PubMed:19595722, PubMed:19596235, PubMed:19596236, PubMed:25538220).INTERACTION Localizes to sites of DNA damage.ALTERNATIVE PRODUCTS 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).DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the XPF family.SEQUENCE CAUTION Truncated N-terminus.
crossReference	[DatabaseIdentifier:12469058] RefSeq:NP_005227.1 [DatabaseIdentifier:12289036] Pharos - Targets:Q92889 [DatabaseIdentifier:12270712] PRO:Q92889 [DatabaseIdentifier:12206963] PDB:2MUT [DatabaseIdentifier:12206962] PDB:2AQ0 [DatabaseIdentifier:12206961] PDB:2KN7 [DatabaseIdentifier:12206965] PDB:6SXB [DatabaseIdentifier:12206966] PDB:2A1J [DatabaseIdentifier:12206967] PDB:6SXA [DatabaseIdentifier:12206964] PDB:1Z00 [DatabaseIdentifier:12137028] Orphanet:ERCC4 [DatabaseIdentifier:12128819] OpenTargets:ENSG00000175595 [DatabaseIdentifier:11844199] HPA:ENSG00000175595-ERCC4 [DatabaseIdentifier:11832586] HMDB Protein:HMDBP08835 [DatabaseIdentifier:11791193] GeneCards:ERCC4 [DatabaseIdentifier:11761336] ENSEMBL:ENST00000575156 [DatabaseIdentifier:11761337] ENSEMBL:ENST00000311895 [DatabaseIdentifier:11638638] ENSEMBL:ENSP00000310520 [DatabaseIdentifier:11638637] ENSEMBL:ENSP00000459933 [DatabaseIdentifier:11519999] ENSEMBL:ENSG00000175595
databaseName	UniProt
dbId	67446
description	recommendedName: DNA repair endonuclease XPF ecNumber evidence="4"3.1.-.- alternativeName: fullName evidence="28"DNA excision repair protein ERCC-4 alternativeName: fullName evidence="27"DNA repair protein complementing XP-F cells alternativeName: fullName evidence="27"Xeroderma pigmentosum group F-complementing protein
displayName	UniProt:Q92889 ERCC4
geneName	ERCC4 ERCC11 XPF
identifier	Q92889
isSequenceChanged	false
keyword	3D-structure Acetylation Alternative splicing Chromosome Cockayne syndrome Disease variant DNA damage DNA repair DNA-binding Dwarfism Endonuclease Fanconi anemia Hydrolase Isopeptide bond Magnesium Nuclease Nucleus Phosphoprotein Proteomics identification Reference proteome Repeat Ubl conjugation Xeroderma pigmentosum
modified	[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType	Protein
name	ERCC4
otherIdentifier	11731157_at 11731158_a_at 11758589_s_at 11762555_at 11762556_x_at 1258_s_at 16815971 1799_at 1800_g_at 2072 210158_PM_at 210158_at 235215_PM_at 235215_at 3648998 3648999 3649000 3649001 3649002 3649003 3649005 3649006 3649007 3649008 3649009 3649010 3649014 3649015 3649016 3649017 3649018 3649019 3649020 3649021 3649022 3649023 3649024 3649025 3649026 3649027 3649028 3649029 3649030 3649031 3649032 3649033 3649034 3649036 3649037 67001_at 73798_at 7993298 A_14_P112099 A_14_P124098 A_14_P126443 A_14_P130414 A_32_P157481 A_32_P160547 A_32_P65061 A_33_P3243364 GE59307 GE751353 GE84245 GO:0000014 GO:0000109 GO:0000110 GO:0000712 GO:0000723 GO:0000724 GO:0000781 GO:0001094 GO:0003677 GO:0003684 GO:0003697 GO:0003824 GO:0004518 GO:0004519 GO:0004520 GO:0005515 GO:0005634 GO:0005654 GO:0005694 GO:0006281 GO:0006289 GO:0006303 GO:0006310 GO:0006974 GO:0009411 GO:0009650 GO:0010506 GO:0016787 GO:0022414 GO:0032200 GO:0032205 GO:0034644 GO:0042802 GO:0061819 GO:0070522 GO:0140097 GO:1901255 GO:1904357 GO:1905765 GO:1990599 GO:1990841 HMNXSV003018057 HMNXSV003052296 Hs.124343.0.A1_3p_at ILMN_1662897 ILMN_2192394 TC16000170.hg U64315_s_at g1524410_3p_at p6290
physicalEntity	[EntityWithAccessionedSequence:R-HSA-67445] ERCC4 [nucleoplasm] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:12767612] UCSC:Q92889 ERCC4 [ReferenceDNASequence:12113538] OMIM:133520 ERCC4 [ReferenceDNASequence:12097804] NCBI Gene:2072 ERCC4 [ReferenceDNASequence:12013711] Monarch:2072 ERCC4 [ReferenceDNASequence:11920574] KEGG:hsa:2072 ERCC4 [ReferenceDNASequence:11822862] HGNC:3436 ERCC4 [ReferenceDNASequence:11441363] dbSNP Gene:2072 ERCC4 [ReferenceDNASequence:11418827] CTD Gene:2072 ERCC4 [ReferenceDNASequence:11403730] COSMIC - genes:ERCC4 ERCC4 [ReferenceDNASequence:11383922] BioGPS Gene:2072 ERCC4 [ReferenceDNASequence:ensembl:ENSG00000175595] ENSEMBL:ENSG00000175595 ERCC4
referenceTranscript	[ReferenceRNASequence:12650525] RefSeq:NM_005236.3 ERCC4
schemaClass	ReferenceGeneProduct
secondaryIdentifier	XPF_HUMAN A5PKV6 A8K111 O00140 Q8TD83
sequenceLength	916
species	[Species:48887] Homo sapiens
stId	uniprot:Q92889
url	http://purl.uniprot.org/uniprot/Q92889

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[EntityWithAccessionedSequence:R-HSA-67445] ERCC4 [nucleoplasm]