InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ERCC4

Summary

InnateDB Protein

IDBP-15171.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ERCC4

Protein Name

excision repair cross-complementing rodent repair deficiency, complementation group 4

Synonyms

ERCC11; FANCQ; RAD1; XPF;

Species

Homo sapiens

Ensembl Protein

ENSP00000310520

InnateDB Gene

IDBG-15169 (ERCC4)

Protein Structure

UniProt Annotation

Function

Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair. Involved in homologous recombination that assists in removing interstrand cross-link. {ECO:0000269PubMed:19596235}.

Subcellular Localization

Nucleus {ECO:0000305}.

Disease Associations

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:0000269PubMed:8797827, ECO:0000269PubMed:9579555, ECO:0000269PubMed:9580660}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:17183314}. Note=The disease is caused by mutations affecting the gene represented in this entry.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. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:23623386}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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