ERCC5 ERCC excision repair 5, endonuclease [Homo sapiens (human)] - Gene

Summary

Official Symbol: ERCC5provided by HGNC
Official Full Name: ERCC excision repair 5, endonucleaseprovided by HGNC
Primary source: HGNC:HGNC:3437
See related: Ensembl:ENSG00000134899 MIM:133530; AllianceGenome:HGNC:3437
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: XPG; UVDR; XPGC; COFS3; ERCM2; ERCC5-201
Summary: This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, cognitive disability, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]
Expression: Ubiquitous expression in lymph node (RPKM 16.5), duodenum (RPKM 16.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q33.1

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (102846032..102875995)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (102064228..102094203)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (103498382..103528345)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genetic Polymorphisms of XPC, XPD, XPG Genes and their Association with Radiotherapy Induced Toxicity among Head and Neck Cancer Patients: A Hospital Based Study from Maharashtra.
Title: Genetic Polymorphisms of XPC, XPD, XPG Genes and their Association with Radiotherapy Induced Toxicity among Head and Neck Cancer Patients: A Hospital Based Study from Maharashtra.
Elucidation of Increased Cervical Cancer Risk Due to Polymorphisms in XRCC1 (R399Q and R194W), ERCC5 (D1104H), and NQO1 (P187S).
Title: Elucidation of Increased Cervical Cancer Risk Due to Polymorphisms in XRCC1 (R399Q and R194W), ERCC5 (D1104H), and NQO1 (P187S).
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.
The interplay between XPG-Asp1104His polymorphism and reproductive risk factors elevates risk of breast cancer in Tanzanian women: A multiple interaction analysis.
Title: The interplay between XPG-Asp1104His polymorphism and reproductive risk factors elevates risk of breast cancer in Tanzanian women: A multiple interaction 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.
ERCC5, HES6 and RORA are potential diagnostic markers of coronary artery disease.
Title: ERCC5, HES6 and RORA are potential diagnostic markers of coronary artery disease.
Variants of ERCC5 and the outcome of platinum-based regimens in non-small cell lung cancer: a prospective cohort study.
Title: Variants of ERCC5 and the outcome of platinum-based regimens in non-small cell lung cancer: a prospective cohort study.
A stable XPG protein is required for proper ribosome biogenesis: Insights on the phenotype of combinate Xeroderma Pigmentosum/Cockayne Syndrome patients.
Title: A stable XPG protein is required for proper ribosome biogenesis: Insights on the phenotype of combinate Xeroderma Pigmentosum/Cockayne Syndrome patients.
Relationship of ERCC5 genetic polymorphisms with metastasis and recurrence of gastric cancer.
Title: Relationship of ERCC5 genetic polymorphisms with metastasis and recurrence of gastric cancer.
XPG gene polymorphisms and glioma susceptibility: a two-centre case-control study.
Title: XPG gene polymorphisms and glioma susceptibility: a two-centre case-control study.

Submit: New GeneRIF Correction See all GeneRIFs (149)

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
Cerebrooculofacioskeletal syndrome 3 MedGen: C1851443 OMIM: 616570 GeneReviews: Not available	Compare labs
Xeroderma pigmentosum, group G MedGen: C0268141 OMIM: 278780 GeneReviews: Xeroderma Pigmentosum	Compare labs

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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Replication interactions

Interaction	Pubs
Knockdown of excision repair cross-complementing rodent repair deficiency, complementation group 5 (ERCC5) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

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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

RH46042 (e-PCR)
- UniSTS:1299

PMC20331P1 (e-PCR)
- UniSTS:271929

PMC20331P2 (e-PCR)
- UniSTS:271930

STS-X69978 (e-PCR)
- UniSTS:48195

G67467 (e-PCR)
- UniSTS:186701

G67466 (e-PCR)
- UniSTS:186702

G62084 (e-PCR)
- UniSTS:139087

GDB:251639 (e-PCR)
- UniSTS:156313

RH71360 (e-PCR)
- UniSTS:42678

A008L48 (e-PCR)
- UniSTS:3256

GDB:554884 (e-PCR)
- UniSTS:157663

ERCC5_1281 (e-PCR)
- UniSTS:277217

SHGC-146634 (e-PCR)
- UniSTS:175340

Readthrough BIVM-ERCC5

Readthrough gene: BIVM-ERCC5, Included gene: BIVM

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA endonuclease activity	IBA Inferred from Biological aspect of Ancestor more info
enables DNA endonuclease activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA endonuclease activity	TAS Traceable Author Statement more info
enables RNA polymerase II complex binding	IDA Inferred from Direct Assay more info	PubMed
enables bubble DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables damaged DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables endonuclease activity	IDA Inferred from Direct Assay more info	PubMed
enables enzyme activator activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex 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	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in base-excision repair, AP site formation	IDA Inferred from Direct Assay more info	PubMed
involved_in double-strand break repair via homologous recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype 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	TAS Traceable Author Statement more info
involved_in response to UV	IDA Inferred from Direct Assay more info	PubMed
involved_in response to UV	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to UV-C	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transcription-coupled nucleotide-excision repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transcription-coupled nucleotide-excision repair	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
part_of DNA replication factor A complex	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
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: DNA excision repair protein ERCC-5

Names: DNA repair protein complementing XP-G cells; XPG-complementing protein; excision repair cross-complementation group 5; excision repair cross-complementing rodent repair deficiency, complementation group 5; xeroderma pigmentosum, complementation group G

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_007146.1 RefSeqGene

Range

5018..35178

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_464

mRNA and Protein(s)

NM_000123.4 → NP_000114.3 DNA excision repair protein ERCC-5

Status: REVIEWED

Source sequence(s)

AL157769

Consensus CDS

CCDS32004.1

UniProtKB/Swiss-Prot

A6NGT4, P28715, Q5JUS4, Q5JUS5, Q7Z2V3, Q8IZL6, Q8N1B7, Q9HD59, Q9HD60

UniProtKB/TrEMBL

A0A090HNM7

Related

ENSP00000498881.2, ENST00000652225.2

Conserved Domains (1) summary

TIGR00600
Location:1 → 1029

rad2; DNA excision repair protein (rad2)