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ERCC5 excision repair cross-complementation group 5 [ Homo sapiens (human) ]

Gene ID: 2073, updated on 26-Nov-2014
Official Symbol
ERCC5provided by HGNC
Official Full Name
excision repair cross-complementation group 5provided by HGNC
Primary source
HGNC:HGNC:3437
Locus tag
RP11-484I6.5
See related
Ensembl:ENSG00000134899; HPRD:00595; MIM:133530; Vega:OTTHUMG00000017310
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, mental retardation, 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]
See ERCC5 in Epigenomics, MapViewer
Location:
13q33
Exon count:
15
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 13 NC_000013.11 (102845841..102876001)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (103498191..103528351)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene KDEL (Lys-Asp-Glu-Leu) containing 1 Neighboring gene BIVM-ERCC5 readthrough Neighboring gene basic, immunoglobulin-like variable motif containing Neighboring gene RNA, Ro-associated Y5 pseudogene 8 Neighboring gene methyltransferase like 21E, pseudogene Neighboring gene solute carrier family 10 (sodium/bile acid cotransporter), member 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. These cellular mechanisms that must cope with the plethora of DNA base pair ad...
  • Dual incision reaction in GG-NER, organism-specific biosystem (from REACTOME)
    Dual incision reaction in GG-NER, organism-specific biosystemDual incision at defined positions flanking the DNA damage is carried out by XPG (3' -incision) and ERCC1-XPF (5'-incision) complex. The resulting excised fragment is ~27-30 bp long and contains the...
  • Dual incision reaction in TC-NER, organism-specific biosystem (from REACTOME)
    Dual incision reaction in TC-NER, organism-specific biosystemDual incisions are carried out by XPG, and ERCC1-XPF complex as seen in GG-NER.
  • Formation of incision complex in GG-NER, organism-specific biosystem (from REACTOME)
    Formation of incision complex in GG-NER, organism-specific biosystemBinding of XPC complex to the damaged site on the DNA substrate is followed by XPA and RPA recruitment. XPA is a metalloprotein that binds to different types of DNA damage. Binding of RPA, or Replic...
  • Formation of transcription-coupled NER (TC-NER) repair complex, organism-specific biosystem (from REACTOME)
    Formation of transcription-coupled NER (TC-NER) repair complex, organism-specific biosystemThe 'road block' induced by the DNA damage to the transcription machinery triggers assembly of a transcription couple repair complex, whose composition and function are yet to fully understood. Da...
  • Global Genomic NER (GG-NER), organism-specific biosystem (from REACTOME)
    Global Genomic NER (GG-NER), organism-specific biosystemGG-NER is considered to be transcription-independent, removing lesions from non-transcribed regions of genome in addition to non-transcribed strands of transcribed regions. The three events that char...
  • Nucleotide Excision Repair, organism-specific biosystem (from REACTOME)
    Nucleotide Excision Repair, organism-specific biosystemNER was first described in the model organism E. coli in the early 1960s as a process whereby bulky base damage is enzymatically removed from DNA, facilitating the recovery of DNA synthesis and cell ...
  • Nucleotide excision repair, organism-specific biosystem (from KEGG)
    Nucleotide excision repair, organism-specific biosystemNucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the ...
  • Nucleotide excision repair, conserved biosystem (from KEGG)
    Nucleotide excision repair, conserved biosystemNucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the ...
  • Transcription-coupled NER (TC-NER), organism-specific biosystem (from REACTOME)
    Transcription-coupled NER (TC-NER), organism-specific biosystemThe preferential repair of UV-induced damage in transcribed strands of active genes is known as Transcription-coupled NER (TC-NER). Impairment of the ability for TC-NER results in the onset of a sev...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Readthrough BIVM-ERCC5

Readthrough gene: BIVM-ERCC5, Included gene: BIVM

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
bubble DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
double-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
endodeoxyribonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
endonuclease activity TAS
Traceable Author Statement
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein N-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
single-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
DNA catabolic process, endonucleolytic IDA
Inferred from Direct Assay
more info
PubMed 
DNA repair TAS
Traceable Author Statement
more info
 
UV protection IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleotide-excision repair TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, DNA damage removal TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, DNA incision, 3'-to lesion IDA
Inferred from Direct Assay
more info
PubMed 
nucleotide-excision repair, DNA incision, 3'-to lesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to UV IDA
Inferred from Direct Assay
more info
PubMed 
response to UV IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to UV-C IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription-coupled nucleotide-excision repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription-coupled nucleotide-excision repair TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
colocalizes_with DNA replication factor A complex IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with DNA-directed RNA polymerase II, holoenzyme IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with holo TFIIH complex IDA
Inferred from Direct Assay
more info
PubMed 
intermediate filament cytoskeleton IDA
Inferred from Direct Assay
more info
 
NOT nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
DNA repair protein complementing XP-G cells
Names
DNA repair protein complementing XP-G cells
XPG-complementing protein
DNA excision repair protein ERCC-5
xeroderma pigmentosum, complementation group G
excision repair cross-complementing rodent repair deficiency, complementation group 5

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 

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

mRNA and Protein(s)

  1. NM_000123.3NP_000114.2  DNA repair protein complementing XP-G cells

    See proteins identical to NP_000114.2

    Status: REVIEWED

    Source sequence(s)
    BE223050, BQ002437, DA195001, X69978
    Consensus CDS
    CCDS32004.1
    UniProtKB/Swiss-Prot
    P28715
    Related
    ENSP00000347978, OTTHUMP00000018678, ENST00000355739, OTTHUMT00000045708
    Conserved Domains (3) summary
    cd09904
    Location:849943
    H3TH_XPG; H3TH domain of Xeroderma pigmentosum complementation group G (XPG) nuclease, a structure-specific, divalent-metal-ion dependent, 5' nuclease
    cd09868
    Location:1130
    PIN_XPG; PIN domain of Xeroderma pigmentosum complementation group G (XPG) nuclease, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs
    TIGR00600
    Location:11029
    rad2; DNA excision repair protein (rad2)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000013.11 

    Range
    102845841..102876001
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018924.2 

    Range
    103467640..103497809
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000145.1 

    Range
    84090418..84120587
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)