Ercc4 excision repair cross-complementing rodent repair deficiency, complementation group 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ercc4provided by MGI
Official Full Name: excision repair cross-complementing rodent repair deficiency, complementation group 4provided by MGI
Primary source: MGI:MGI:1354163
See related: Ensembl:ENSMUSG00000022545 AllianceGenome:MGI:1354163
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Xpf
Summary: Enables TFIID-class transcription factor complex binding activity and promoter-specific chromatin binding activity. Acts upstream of or within DNA repair; UV protection; and regulation of autophagy. Predicted to be located in chromosome, telomeric region and nucleus. Predicted to be part of ERCC4-ERCC1 complex and nucleotide-excision repair factor 1 complex. Is expressed in central nervous system and retina. Used to study xeroderma pigmentosum group F. Human ortholog(s) of this gene implicated in Fanconi anemia complementation group Q; XFE progeroid syndrome; pancreatic cancer; polyneuropathy due to drug; and xeroderma pigmentosum (multiple). Orthologous to human ERCC4 (ERCC excision repair 4, endonuclease catalytic subunit). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis adult (RPKM 8.4), ovary adult (RPKM 5.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16 A1; 16 8.93 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (12927600..12969873)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (13109366..13152009)

Chromosome 16 - NC_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The structure-specific endonuclease complex SLX4-XPF regulates Tus-Ter-induced homologous recombination.
Title: The structure-specific endonuclease complex SLX4-XPF regulates Tus-Ter-induced homologous recombination.
ERCC1-XPF cooperates with CTCF and cohesin to facilitate the developmental silencing of imprinted genes and that persistent DNA damage triggers chromatin changes that affect gene expression programs associated with NER disorders.
Title: ERCC1-XPF cooperates with CTCF and cohesin to facilitate the developmental silencing of imprinted genes.
these results establish USP45 as a new regulator of XPF-ERCC1 crucial for efficient DNA repair
Title: USP45 deubiquitylase controls ERCC1-XPF endonuclease-mediated DNA damage responses.
SLX4 is a tumor suppressor, which activates XPF-ERCC1 nuclease specificity in DNA crosslink repair.
Title: Mouse SLX4 is a tumor suppressor that stimulates the activity of the nuclease XPF-ERCC1 in DNA crosslink repair.
These data support the conclusion that, as in yeast, ERCC1-XPF facilitates double-strand breaks repair via an end-joining mechanism that is Ku86 independent.
Title: ERCC1-XPF endonuclease facilitates DNA double-strand break repair.
In mice with overexpressed TRF2, telomere loss is mediated by Xpf.
Title: XPF nuclease-dependent telomere loss and increased DNA damage in mice overexpressing TRF2 result in premature aging and cancer.
Data reveal an unanticipated involvement of the ERCC1/XPF NER endonuclease in the regulation of telomere integrity.
Title: ERCC1/XPF removes the 3' overhang from uncapped telomeres and represses formation of telomeric DNA-containing double minute chromosomes.
mitomycin C triggered sister chromatid exchanges in wild-type cells but chromatid fusions in Ercc1(-/-) and Xpf mutant cells, indicating that in their absence, repair of double-strand breaks(DSBs)is prevented.
Title: The structure-specific endonuclease Ercc1-Xpf is required to resolve DNA interstrand cross-link-induced double-strand breaks.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI606920 (e-PCR)
- UniSTS:165974

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

NoName (e-PCR)
- UniSTS:237435

MHAa27a7.seq (e-PCR)
- UniSTS:125101

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 3' overhang single-stranded DNA endodeoxyribonuclease activity	IEA Inferred from Electronic Annotation more info
contributes_to 3' overhang single-stranded DNA endodeoxyribonuclease activity	ISO Inferred from Sequence Orthology more info
contributes_to DNA binding	ISO Inferred from Sequence Orthology more info
contributes_to DNA endonuclease activity	ISO Inferred from Sequence Orthology more info
enables DNA endonuclease activity	ISO Inferred from Sequence Orthology more info
enables TFIID-class transcription factor complex binding	IDA Inferred from Direct Assay more info	PubMed
enables damaged DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables damaged DNA binding	IEA Inferred from Electronic Annotation more info
enables damaged DNA binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables promoter-specific chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables single-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables single-stranded DNA binding	IEA Inferred from Electronic Annotation more info
enables single-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables single-stranded DNA endodeoxyribonuclease activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA repair	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within UV protection	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to UV	ISO Inferred from Sequence Orthology more info
involved_in cellular response to UV	ISS Inferred from Sequence or Structural Similarity more info
involved_in double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in double-strand break repair via homologous recombination	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair via homologous recombination	ISO Inferred from Sequence Orthology more info
involved_in double-strand break repair via nonhomologous end joining	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair via nonhomologous end joining	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of double-stranded telomeric DNA binding	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protection from non-homologous end joining at telomere	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protection from non-homologous end joining at telomere	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of telomere maintenance	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of telomere maintenance via telomere lengthening	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of telomere maintenance via telomere lengthening	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within nucleotide-excision repair	ISO Inferred from Sequence Orthology more info	PubMed
involved_in nucleotide-excision repair	ISO Inferred from Sequence Orthology more info
involved_in nucleotide-excision repair	ISS Inferred from Sequence or Structural Similarity more info
involved_in nucleotide-excision repair involved in interstrand cross-link repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in nucleotide-excision repair involved in interstrand cross-link repair	ISO Inferred from Sequence Orthology more info
involved_in nucleotide-excision repair involved in interstrand cross-link repair	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in resolution of meiotic recombination intermediates	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to UV	ISO Inferred from Sequence Orthology more info
involved_in telomere maintenance	ISO Inferred from Sequence Orthology more info
involved_in telomeric DNA-containing double minutes formation	IEA Inferred from Electronic Annotation more info
involved_in telomeric DNA-containing double minutes formation	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of ERCC4-ERCC1 complex	ISO Inferred from Sequence Orthology more info
part_of ERCC4-ERCC1 complex	ISS Inferred from Sequence or Structural Similarity more info
located_in chromosome, telomeric region	IEA Inferred from Electronic Annotation more info
located_in chromosome, telomeric region	ISO Inferred from Sequence Orthology more info
part_of nucleotide-excision repair complex	ISO Inferred from Sequence Orthology more info	PubMed
part_of nucleotide-excision repair factor 1 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of nucleotide-excision repair factor 1 complex	IEA Inferred from Electronic Annotation more info
part_of nucleotide-excision repair factor 1 complex	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: DNA repair endonuclease XPF

Names: DNA excision repair protein ERCC-4; DNA repair endonuclease subunit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.