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ERCC4 ERCC excision repair 4, endonuclease catalytic subunit [ Homo sapiens (human) ]

Gene ID: 2072, updated on 26-May-2016
Official Symbol
ERCC4provided by HGNC
Official Full Name
ERCC excision repair 4, endonuclease catalytic subunitprovided by HGNC
Primary source
HGNC:HGNC:3436
See related
Ensembl:ENSG00000175595 HPRD:00594; MIM:133520; Vega:OTTHUMG00000048194
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
XPF; RAD1; FANCQ; XFEPS; ERCC11
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]
Orthologs
Location:
16p13.12
Exon count:
14
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (13920145..13952348)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (14014014..14046205)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371092 Neighboring gene shisa family member 9 Neighboring gene uncharacterized LOC105371091 Neighboring gene uncharacterized LOC105371093 Neighboring gene ribosomal protein S26 pseudogene 52 Neighboring gene uncharacterized LOC101927311 Neighboring gene uncharacterized LOC101927348

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide association study of the metabolic syndrome in Indian Asian men.
NHGRI GWA Catalog
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Genome-wide association study of conduct disorder symptomatology.
NHGRI GWA Catalog
UGT1A1 is a major locus influencing bilirubin levels in African Americans.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Vpr vpr Co-immunoprecipitation and glycerol-gradient sedimentation demonstrate that HIV-1 Vpr, VPRBP, DDB1, SLX4, MUS81, EME1, ERCC1, and ERCC4 form a complex PubMed

Go to the HIV-1, Human Interaction Database

  • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
    DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • Dual Incision in GG-NER, organism-specific biosystem (from REACTOME)
    Dual Incision in GG-NER, organism-specific biosystemDouble incision at the damaged DNA strand excises the oligonucleotide that contains the lesion from the open bubble. The excised oligonucleotide is ~27-30 bases long. Incision 5' to the damage site, ...
  • Dual incision in TC-NER, organism-specific biosystem (from REACTOME)
    Dual incision in TC-NER, organism-specific biosystemIn transcription-coupled nucleotide excision repair (TC-NER), similar to global genome nucleotide excision repair (GG-NER), the oligonucleotide that contains the lesion is excised from the open bubbl...
  • Fanconi Anemia Pathway, organism-specific biosystem (from REACTOME)
    Fanconi Anemia Pathway, organism-specific biosystemFanconi anemia (FA) is a genetic disease of genome instability characterized by congenital skeletal defects, aplastic anemia, susceptibility to leukemias, and cellular sensitivity to DNA damaging age...
  • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
    Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • Fanconi anemia pathway, conserved biosystem (from KEGG)
    Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • Formation of Incision Complex in GG-NER, organism-specific biosystem (from REACTOME)
    Formation of Incision Complex in GG-NER, organism-specific biosystemAfter the XPC complex and the UV-DDB complex bind damaged DNA, a basal transcription factor TFIIH is recruited to the nucleotide excision repair (NER) site (Volker et al. 2001, Riedl et al. 2003). DN...
  • Global Genome Nucleotide Excision Repair (GG-NER), organism-specific biosystem (from REACTOME)
    Global Genome Nucleotide Excision Repair (GG-NER), organism-specific biosystemThe DNA damage in GG-NER is recognized by the joint action of two protein complexes. The first complex is composed of XPC, RAD23A or RAD23B and CETN2. The second complex, known as the UV-DDB complex,...
  • HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
    HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) of replication-independent DNA double strand breaks (DSBs) via homologous recombination repair (HRR) or single strand annealing (SSA) requires the activation of ATM fol...
  • HDR through Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
    HDR through Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) through single strand annealing (SSA), similar to HDR through homologous recombination repair (HRR), involves extensive resection of DNA double strand break ends (DSBs)...
  • Homology Directed Repair, organism-specific biosystem (from REACTOME)
    Homology Directed Repair, organism-specific biosystemHomology directed repair (HDR) of DNA double strand breaks (DSBs) requires resection of DNA DSB ends. Resection creates 3'-ssDNA overhangs which then anneal with a homologous DNA sequence. This homol...
  • Nucleotide Excision Repair, organism-specific biosystem (from REACTOME)
    Nucleotide Excision Repair, organism-specific biosystemNucleotide excision repair (NER) was first described in the model organism E. coli in the early 1960s as a process whereby bulky base damage is enzymatically removed from DNA, facilitating the recove...
  • Nucleotide excision repair, organism-specific biosystem (from KEGG)
    Nucleotide excision repair, organism-specific biosystemNucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the ...
  • Nucleotide excision repair, conserved biosystem (from KEGG)
    Nucleotide excision repair, conserved biosystemNucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the ...
  • Transcription-Coupled Nucleotide Excision Repair (TC-NER), organism-specific biosystem (from REACTOME)
    Transcription-Coupled Nucleotide Excision Repair (TC-NER), organism-specific biosystemDNA damage in transcribed strands of active genes is repaired through a specialized nucleotide excision repair (NER) pathway known as transcription-coupled nucleotide excision repair (TC-NER). TC-NER...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
TFIID-class transcription factor binding IEA
Inferred from Electronic Annotation
more info
 
damaged DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
endodeoxyribonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to endodeoxyribonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
endodeoxyribonuclease activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein N-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
single-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
single-stranded DNA endodeoxyribonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
 
contributes_to structure-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
DNA repair IGI
Inferred from Genetic Interaction
more info
PubMed 
DNA repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
UV protection IEA
Inferred from Electronic Annotation
more info
 
cellular response to UV IGI
Inferred from Genetic Interaction
more info
PubMed 
double-strand break repair via homologous recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
global genome nucleotide-excision repair TAS
Traceable Author Statement
more info
 
interstrand cross-link repair TAS
Traceable Author Statement
more info
 
negative regulation of telomere maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleotide-excision repair IDA
Inferred from Direct Assay
more info
PubMed 
nucleotide-excision repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleotide-excision repair involved in interstrand cross-link repair IBA
Inferred from Biological aspect of Ancestor
more info
 
nucleotide-excision repair, DNA incision IDA
Inferred from Direct Assay
more info
PubMed 
nucleotide-excision repair, DNA incision TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, DNA incision, 3'-to lesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleotide-excision repair, DNA incision, 3'-to lesion TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, DNA incision, 5'-to lesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleotide-excision repair, DNA incision, 5'-to lesion TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, preincision complex stabilization TAS
Traceable Author Statement
more info
 
resolution of meiotic recombination intermediates IBA
Inferred from Biological aspect of Ancestor
more info
 
response to UV IMP
Inferred from Mutant Phenotype
more info
PubMed 
telomere maintenance IGI
Inferred from Genetic Interaction
more info
PubMed 
telomere maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription-coupled nucleotide-excision repair TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
ERCC4-ERCC1 complex IDA
Inferred from Direct Assay
more info
PubMed 
chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleotide-excision repair complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleotide-excision repair factor 1 complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor TFIID complex IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
DNA repair endonuclease XPF
Names
DNA excision repair protein ERCC-4
DNA repair protein complementing XP-F cells
excision repair cross-complementation group 4
excision repair cross-complementing rodent repair deficiency, complementation group 4
excision-repair, complementing defective, in Chinese hamster
xeroderma pigmentosum group F-complementing protein
xeroderma pigmentosum, complementation group F

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.

Genomic

  1. NG_011442.1 RefSeqGene

    Range
    5001..37192
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_463

mRNA and Protein(s)

  1. NM_005236.2NP_005227.1  DNA repair endonuclease XPF

    See identical proteins and their annotated locations for NP_005227.1

    Status: REVIEWED

    Source sequence(s)
    AC010401, AI470593, AK289726, U64315
    Consensus CDS
    CCDS32390.1
    UniProtKB/Swiss-Prot
    Q92889
    Related
    ENSP00000310520, OTTHUMP00000045868, ENST00000311895, OTTHUMT00000109634
    Conserved Domains (2) summary
    pfam02732
    Location:686816
    ERCC4; ERCC4 domain
    TIGR00596
    Location:97907
    rad1; DNA repair protein (rad1)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

    Range
    13920145..13952348
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522424.1XP_011520726.1  

    Conserved Domains (2) summary
    pfam02732
    Location:732862
    ERCC4; ERCC4 domain
    TIGR00596
    Location:97953
    rad1; DNA repair protein (rad1)
  2. XM_011522425.1XP_011520727.1  

    Conserved Domains (2) summary
    pfam02732
    Location:505635
    ERCC4; ERCC4 domain
    TIGR00596
    Location:1726
    rad1; DNA repair protein (rad1)
  3. XM_011522426.1XP_011520728.1  

    Conserved Domains (2) summary
    pfam02732
    Location:423553
    ERCC4; ERCC4 domain
    TIGR00596
    Location:2644
    rad1; DNA repair protein (rad1)
  4. XM_011522427.1XP_011520729.1  

    See identical proteins and their annotated locations for XP_011520729.1

    UniProtKB/TrEMBL
    B4DXD8
    Conserved Domains (2) summary
    pfam02732
    Location:236366
    ERCC4; ERCC4 domain
    TIGR00596
    Location:3457
    rad1; DNA repair protein (rad1)

RNA

  1. XR_932805.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    14013994..14046211
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)