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

Gene ID: 2073, updated on 23-Nov-2021

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
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
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Genomic context

See ERCC5 in Genome Data Viewer
Location:
13q33.1
Exon count:
15
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (102846032..102875995)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (103498382..103528345)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene protein O-glucosyltransferase 2 Neighboring gene BIVM-ERCC5 readthrough Neighboring gene basic, immunoglobulin-like variable motif containing Neighboring gene RNY5 pseudogene 8 Neighboring gene methyltransferase like 21E, pseudogene Neighboring gene solute carrier family 10 member 2

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?

HIV-1 interactions

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough BIVM-ERCC5

Readthrough gene: BIVM-ERCC5, Included gene: BIVM

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 endodeoxyribonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables endodeoxyribonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
enables endodeoxyribonuclease activity TAS
Traceable Author Statement
more info
 
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 N-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
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
PubMed 
enables single-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within UV protection IGI
Inferred from Genetic Interaction
more info
PubMed 
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, DNA incision, 3'-to lesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in nucleotide-excision repair, DNA incision, 3'-to lesion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in nucleotide-excision repair, DNA incision, 3'-to lesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in nucleotide-excision repair, DNA incision, 5'-to lesion TAS
Traceable Author Statement
more info
 
involved_in regulation of catalytic activity IDA
Inferred from Direct Assay
more info
PubMed 
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
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
PubMed 
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

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

  1. NG_007146.1 RefSeqGene

    Range
    5018..35178
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_464

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AL157769
    Consensus CDS
    CCDS32004.1
    Related
    ENSP00000498881.2, ENST00000652225.2
    Conserved Domains (1) summary
    TIGR00600
    Location:11029
    rad2; DNA excision repair protein (rad2)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    102846032..102875995
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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