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

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; 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: mouse all
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Genomic context

Location:: 16p13.12

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (13920154..13952348)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (13957393..13989586)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (14014011..14046205)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of ERCC1 and XPF polymorphisms with pediatric glioma susceptibility.
Title: Association of ERCC1 and XPF polymorphisms with pediatric glioma susceptibility.
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.
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of conduct disorder symptomatology. EBI GWAS Catalog EBI GWAS CatalogPubMed
UGT1A1 is a major locus influencing bilirubin levels in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH76185 (e-PCR)
- UniSTS:85835

ERCC4_4079 (e-PCR)
- UniSTS:463977

D10S16 (e-PCR)
- UniSTS:155756

SHGC-67307 (e-PCR)
- UniSTS:89991

RH65247 (e-PCR)
- UniSTS:41868

G67513 (e-PCR)
- UniSTS:186772

G67511 (e-PCR)
- UniSTS:186773

G67515 (e-PCR)
- UniSTS:186774

G67514 (e-PCR)
- UniSTS:186775

G67516 (e-PCR)
- UniSTS:186776

G67512 (e-PCR)
- UniSTS:186777

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 protection from non-homologous end joining at telomere	IMP Inferred from Mutant Phenotype 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

NG_011442.1 RefSeqGene

Range

5001..37192

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_463

mRNA and Protein(s)

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

13920154..13952348

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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