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

Gene ID: 2072, updated on 3-Apr-2024

Summary

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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; AllianceGenome:HGNC:3436
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
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Genomic context

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Location:
16p13.12
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (13920154..13952348)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (13957393..13989586)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (14014011..14046205)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903646 Neighboring gene Sharpr-MPRA regulatory region 11413 Neighboring gene uncharacterized LOC105371093 Neighboring gene uncharacterized LOC124903647 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10485 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10487 Neighboring gene ribosomal protein S26 pseudogene 52 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7223 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:14050534-14051733 Neighboring gene long intergenic non-protein coding RNA 2185 Neighboring gene long intergenic non-protein coding RNA 2186 Neighboring gene myocardin related transcription factor B

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. XPF -673C>T variation is associated with the susceptibility to breast cancer. Wu H, et al. Cancer Epidemiol, 2021 Oct. PMID 34416547
  2. Association between nucleotide excision repair gene polymorphism and colorectal cancer risk. Zhang Y, et al. J Clin Lab Anal, 2019 Oct. PMID 31568607, Free PMC Article
  3. Impact of XPF rs2276466 polymorphism on cancer susceptibility: a meta-analysis. Liu Y, et al. Biosci Rep, 2019 May 31. PMID 31040199, Free PMC Article
  4. Functional Comparison of XPF Missense Mutations Associated to Multiple DNA Repair Disorders. Marín M, et al. Genes (Basel), 2019 Jan 17. PMID 30658521, Free PMC Article
  5. XPF polymorphism toward lung cancer susceptibility and survival in patients treated with platinum-based chemotherapy. Lawania S, et al. Future Oncol, 2018 May. PMID 29741112

See all (271) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Association of ERCC1 and XPF polymorphisms with pediatric glioma susceptibility.
    Title: Association of ERCC1 and XPF polymorphisms with pediatric glioma susceptibility.
  2. Association of XPG rs17655G>C and XPF rs1799801T>C Polymorphisms with Susceptibility to Cutaneous Malignant Melanoma: Evidence from a Case-Control Study, Systematic Review and Meta-Analysis
    Title: Association of XPG rs17655G>C and XPF rs1799801T>C Polymorphisms with Susceptibility to Cutaneous Malignant Melanoma: Evidence from a Case-Control Study, Systematic Review and Meta-Analysis.
  3. Association of nonsynonymous SNPs of nucleotide excision repair genes ERCC4 rs1800067 (G/A) and ERCC5 rs17655 (G/C) as predisposing risk factors for gallbladder cancer.
    Title: Association of nonsynonymous SNPs of nucleotide excision repair genes ERCC4 rs1800067 (G/A) and ERCC5 rs17655 (G/C) as predisposing risk factors for gallbladder cancer.
  4. The link of ERCC2 rs13181 and ERCC4 rs2276466 polymorphisms with breast cancer in the Bangladeshi population.
    Title: The link of ERCC2 rs13181 and ERCC4 rs2276466 polymorphisms with breast cancer in the Bangladeshi population.
  5. The ZEB2-dependent EMT transcriptional programme drives therapy resistance by activating nucleotide excision repair genes ERCC1 and ERCC4 in colorectal cancer.
    Title: The ZEB2-dependent EMT transcriptional programme drives therapy resistance by activating nucleotide excision repair genes ERCC1 and ERCC4 in colorectal cancer.
  6. F-circEA1 regulates cell proliferation and apoptosis through ALK downstream signaling pathway in non-small cell lung cancer.
    Title: F-circEA1 regulates cell proliferation and apoptosis through ALK downstream signaling pathway in non-small cell lung cancer.
  7. Contribution of XPD and XPF Polymorphisms to Susceptibility of Non-Small Cell Lung Cancer in High-Altitude Areas.
    Title: Contribution of XPD and XPF Polymorphisms to Susceptibility of Non-Small Cell Lung Cancer in High-Altitude Areas.
  8. XPF -673C>T variation is associated with the susceptibility to breast cancer.
    Title: XPF -673C>T variation is associated with the susceptibility to breast cancer.
  9. Distribution and susceptibility of ERCC1/XPF gene polymorphisms in Han and Uygur women with breast cancer in Xinjiang, China.
    Title: Distribution and susceptibility of ERCC1/XPF gene polymorphisms in Han and Uygur women with breast cancer in Xinjiang, China.
  10. Tonicity-responsive enhancer-binding protein promotes stemness of liver cancer and cisplatin resistance.
    Title: Tonicity-responsive enhancer-binding protein promotes stemness of liver cancer and cisplatin resistance.
Submit: New GeneRIF Correction See all GeneRIFs (128)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Fanconi anemia complementation group Q
MedGen: C3808988 OMIM: 615272 GeneReviews: Fanconi Anemia
Compare labs
Xeroderma pigmentosum, group F
MedGen: C0268140 OMIM: 278760 GeneReviews: Xeroderma Pigmentosum
Compare labs
XFE progeroid syndrome
MedGen: C1970416 OMIM: 610965 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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 
contributes_to DNA endonuclease activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA endonuclease activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA endonuclease activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables TFIID-class transcription factor complex binding IEA
Inferred from Electronic Annotation
more info
  
enables damaged DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables damaged DNA binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables promoter-specific chromatin binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables single-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables single-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables single-stranded DNA endodeoxyribonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
  
NOT enables telomerase inhibitor activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA repair IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in DNA repair IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in UV protection IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to UV IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to UV IGI
Inferred from Genetic Interaction
more info
 PubMed 
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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in double-strand break repair via nonhomologous end joining IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of double-stranded telomeric DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of protection from non-homologous end joining at telomere IMP
Inferred from Mutant Phenotype
more info
 PubMed 
NOT involved_in negative regulation of telomerase activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of telomere maintenance IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of telomere maintenance via telomere lengthening IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within nucleotide-excision repair IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in nucleotide-excision repair IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in nucleotide-excision repair IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of autophagy IEA
Inferred from Electronic Annotation
more info
  
involved_in resolution of meiotic recombination intermediates IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in response to UV IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in telomere maintenance IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in telomere maintenance IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in telomeric DNA-containing double minutes formation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of ERCC4-ERCC1 complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of ERCC4-ERCC1 complex IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in chromosome, telomeric region IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
part_of nucleotide-excision repair complex IDA
Inferred from Direct Assay
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 IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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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)

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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.

Genomic

  1. NG_011442.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_005236.3 → NP_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
    A5PKV6, A8K111, O00140, Q8TD83, Q92889
    UniProtKB/TrEMBL
    A0A1W1GSK9, A0A1W1GST9
    Related
    ENSP00000310520.7, ENST00000311895.8
    Conserved Domains (1) summary
    TIGR00596
    Location:97 → 907
    rad1; DNA repair protein (rad1)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    13920154..13952348
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522424.4 → XP_011520726.1  DNA repair endonuclease XPF isoform X1

    UniProtKB/TrEMBL
    A0A1W1GST9, A0A804HKF9
    Related
    ENSP00000507912.1, ENST00000682617.1
    Conserved Domains (2) summary
    TIGR00596
    Location:97 → 953
    rad1; DNA repair protein (rad1)
    pfam02732
    Location:732 → 862
    ERCC4; ERCC4 domain

  2. XM_047433774.1 → XP_047289730.1  DNA repair endonuclease XPF isoform X2

  3. XM_011522427.2 → XP_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:3 → 457
    rad1; DNA repair protein (rad1)
    pfam02732
    Location:236 → 366
    ERCC4; ERCC4 domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    13957393..13989586
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054379810.1 → XP_054235785.1  DNA repair endonuclease XPF isoform X1

  2. XM_054379811.1 → XP_054235786.1  DNA repair endonuclease XPF isoform X2

  3. XM_054379812.1 → XP_054235787.1  DNA repair endonuclease XPF isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q92889.3 GenPept UniProtKB/Swiss-Prot:Q92889

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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