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

Gene ID: 50505, updated on 27-Nov-2024

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
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Genomic context

See Ercc4 in Genome Data Viewer
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_000082.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4930414F18 gene Neighboring gene RIKEN cDNA 1700003L19 gene Neighboring gene STARR-seq mESC enhancer starr_40124 Neighboring gene STARR-seq mESC enhancer starr_40126 Neighboring gene STARR-seq mESC enhancer starr_40128 Neighboring gene ZW10 interactor pseudogene Neighboring gene STARR-seq mESC enhancer starr_40129 Neighboring gene STARR-seq mESC enhancer starr_40130 Neighboring gene STARR-seq mESC enhancer starr_40131 Neighboring gene STARR-seq mESC enhancer starr_40134 Neighboring gene STARR-positive B cell enhancer mm9_chr16:13109553-13109853 Neighboring gene STARR-seq mESC enhancer starr_40135 Neighboring gene predicted gene, 32596 Neighboring gene STARR-seq mESC enhancer starr_40139 Neighboring gene myocardin related transcription factor B Neighboring gene STARR-seq mESC enhancer starr_40140 Neighboring gene uncharacterized LOC115488652

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Targeted (1)  1 citation

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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.

mRNA and Protein(s)

  1. NM_015769.2NP_056584.2  DNA repair endonuclease XPF

    See identical proteins and their annotated locations for NP_056584.2

    Status: VALIDATED

    Source sequence(s)
    AC166826, AK149326, BQ559127, CD352377, CO433666, CX210668
    Consensus CDS
    CCDS37256.1
    UniProtKB/Swiss-Prot
    O54810, Q8R0I3, Q9QZD4
    Related
    ENSMUSP00000023206.8, ENSMUST00000023206.14
    Conserved Domains (2) summary
    TIGR00596
    Location:97908
    rad1; DNA repair protein (rad1)
    pfam02732
    Location:687817
    ERCC4; ERCC4 domain

RNA

  1. NR_190181.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC166826

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000082.7 Reference GRCm39 C57BL/6J

    Range
    12927600..12969873
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)