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

Gene ID: 2072, updated on 1-Aug-2020

Summary

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 MIM:133520
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]
Expression
Ubiquitous expression in testis (RPKM 4.4), thyroid (RPKM 2.5) and 25 other tissues See more
Orthologs

Genomic context

See ERCC4 in Genome Data Viewer
Location:
16p13.12
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (13920137..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 putative uncharacterized protein encoded by LINC00596 Neighboring gene uncharacterized LOC105371093 Neighboring gene ribosomal protein S26 pseudogene 52 Neighboring gene long intergenic non-protein coding RNA 2185 Neighboring gene long intergenic non-protein coding RNA 2186

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to 3' overhang single-stranded DNA endodeoxyribonuclease activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
contributes_to DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
TFIID-class transcription factor complex binding IEA
Inferred from Electronic Annotation
more info
 
damaged DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
promoter-specific chromatin binding IEA
Inferred from Electronic Annotation
more info
 
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 IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
NOT telomerase inhibitor activity 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
double-strand break repair via homologous recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
double-strand break repair via nonhomologous end joining 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 double-stranded telomeric DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of protection from non-homologous end joining at telomere IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT negative regulation of telomerase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of telomere maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of telomere maintenance via telomere lengthening IDA
Inferred from Direct Assay
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
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
regulation of autophagy IEA
Inferred from Electronic Annotation
more info
 
resolution of meiotic recombination intermediates IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
telomeric DNA-containing double minutes formation 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 IBA
Inferred from Biological aspect of Ancestor
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 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_005236.3NP_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
    UniProtKB/TrEMBL
    A0A1W1GSK9
    Related
    ENSP00000310520.7, ENST00000311895.8
    Conserved Domains (1) summary
    TIGR00596
    Location:97907
    rad1; DNA repair protein (rad1)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    13920137..13952348
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522424.3XP_011520726.1  DNA repair endonuclease XPF isoform X1

    Conserved Domains (2) summary
    TIGR00596
    Location:97953
    rad1; DNA repair protein (rad1)
    pfam02732
    Location:732862
    ERCC4; ERCC4 domain
  2. XM_017023043.2XP_016878532.1  DNA repair endonuclease XPF isoform X2

    Conserved Domains (2) summary
    TIGR00596
    Location:2644
    rad1; DNA repair protein (rad1)
    pfam02732
    Location:423553
    ERCC4; ERCC4 domain
  3. XM_011522427.1XP_011520729.1  DNA repair endonuclease XPF isoform X3

    See identical proteins and their annotated locations for XP_011520729.1

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