Homo sapiens Gene: ERCC4
Summary
InnateDB Gene IDBG-15169.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ERCC4
Gene Name excision repair cross-complementing rodent repair deficiency, complementation group 4
Synonyms ERCC11; FANCQ; RAD1; XPF;
Species Homo sapiens
Ensembl Gene ENSG00000175595
Encoded Proteins
excision repair cross-complementing rodent repair deficiency, complementation group 4
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
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 Information
Type Protein coding
Genomic Location Chromosome 16:13920157-13952345
Strand Forward strand
Band p13.12
Transcripts
ENST00000311895 ENSP00000310520
ENST00000389138
ENST00000462862 ENSP00000461322
ENST00000574781
ENST00000573018
ENST00000574194 ENSP00000461883
ENST00000576348
ENST00000575156 ENSP00000459933
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.
Experimentally validated
Total 26 [view]
Protein-Protein 26 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000014 single-stranded DNA endodeoxyribonuclease activity
GO:0001094 TFIID-class transcription factor binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003684 damaged DNA binding
GO:0003697 single-stranded DNA binding
GO:0004518 nuclease activity
GO:0004519 endonuclease activity
GO:0004520 endodeoxyribonuclease activity
GO:0005515 protein binding
GO:0008022 protein C-terminus binding
GO:0043566 structure-specific DNA binding
GO:0047485 protein N-terminus binding
Biological Process
GO:0000712 resolution of meiotic recombination intermediates
GO:0000718 nucleotide-excision repair, DNA damage removal
GO:0000723 telomere maintenance
GO:0000724 double-strand break repair via homologous recombination
GO:0000737 DNA catabolic process, endonucleolytic
GO:0006281 DNA repair
GO:0006283 transcription-coupled nucleotide-excision repair
GO:0006289 nucleotide-excision repair
GO:0006295 nucleotide-excision repair, DNA incision, 3'-to lesion
GO:0006296 nucleotide-excision repair, DNA incision, 5'-to lesion
GO:0009411 response to UV
GO:0009650 UV protection
GO:0010834 telomere maintenance via telomere shortening
GO:0032205 negative regulation of telomere maintenance
GO:0033683 nucleotide-excision repair, DNA incision
GO:1901255 nucleotide-excision repair involved in interstrand cross-link repair
Cellular Component
GO:0000109 nucleotide-excision repair complex
GO:0000110 nucleotide-excision repair factor 1 complex
GO:0000781 chromosome, telomeric region
GO:0000784 nuclear chromosome, telomeric region
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005669 transcription factor TFIID complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Transcription-coupled NER (TC-NER) pathway
Formation of incision complex in GG-NER pathway
Dual incision reaction in GG-NER pathway
Global Genomic NER (GG-NER) pathway
Dual incision reaction in TC-NER pathway
Formation of transcription-coupled NER (TC-NER) repair complex pathway
Nucleotide Excision Repair pathway
DNA Repair pathway
KEGG
Nucleotide excision repair pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q92889
TrEMBL A5PKV6 B4DXD8 I3L4K0
UniProt Splice Variant
Entrez Gene 2072
UniGene Hs.567265 Hs.604790
RefSeq NM_005236
HUGO HGNC:3436
OMIM 133520
CCDS CCDS32390
HPRD
IMGT
EMBL AC010401 AF491814 AK289726 AK301930 BC142631 L77890 U64315
GenPept AAB07689 AAB50174 AAI42632 AAL91593 BAF82415 BAG63350
RNA Seq Atlas 102725420 2072