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ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit [ Homo sapiens (human) ]

Gene ID: 2067, updated on 26-May-2016
Official Symbol
ERCC1provided by HGNC
Official Full Name
ERCC excision repair 1, endonuclease non-catalytic subunitprovided by HGNC
Primary source
HGNC:HGNC:3433
See related
Ensembl:ENSG00000012061 HPRD:00533; MIM:126380; Vega:OTTHUMG00000182121
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
UV20; COFS4; RAD10
Summary
The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009]
Orthologs
Location:
19q13.32
Exon count:
12
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 19 NC_000019.10 (45407333..45478820, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45910591..45982241, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene kinesin light chain 3 Neighboring gene ERCC excision repair 2, TFIIH core complex helicase subunit Neighboring gene protein phosphatase 1 regulatory subunit 13 like Neighboring gene CD3e molecule associated protein Neighboring gene microRNA 6088 Neighboring gene transfer RNA-SeC (TCA) 1-1 Neighboring gene FosB proto-oncogene, AP-1 trancription factor subunit Neighboring gene reticulon 2 Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1N (putative)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Replication interactions

Interaction Pubs
Knockdown of excision repair cross-complementing rodent repair deficiency, complementation group 1 (ERCC1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

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

  • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
    DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
  • 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. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • Dual Incision in GG-NER, organism-specific biosystem (from REACTOME)
    Dual Incision in GG-NER, organism-specific biosystemDouble incision at the damaged DNA strand excises the oligonucleotide that contains the lesion from the open bubble. The excised oligonucleotide is ~27-30 bases long. Incision 5' to the damage site, ...
  • Dual incision in TC-NER, organism-specific biosystem (from REACTOME)
    Dual incision in TC-NER, organism-specific biosystemIn transcription-coupled nucleotide excision repair (TC-NER), similar to global genome nucleotide excision repair (GG-NER), the oligonucleotide that contains the lesion is excised from the open bubbl...
  • Fanconi Anemia Pathway, organism-specific biosystem (from REACTOME)
    Fanconi Anemia Pathway, organism-specific biosystemFanconi anemia (FA) is a genetic disease of genome instability characterized by congenital skeletal defects, aplastic anemia, susceptibility to leukemias, and cellular sensitivity to DNA damaging age...
  • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
    Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • Fanconi anemia pathway, conserved biosystem (from KEGG)
    Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • Formation of Incision Complex in GG-NER, organism-specific biosystem (from REACTOME)
    Formation of Incision Complex in GG-NER, organism-specific biosystemAfter the XPC complex and the UV-DDB complex bind damaged DNA, a basal transcription factor TFIIH is recruited to the nucleotide excision repair (NER) site (Volker et al. 2001, Riedl et al. 2003). DN...
  • Global Genome Nucleotide Excision Repair (GG-NER), organism-specific biosystem (from REACTOME)
    Global Genome Nucleotide Excision Repair (GG-NER), organism-specific biosystemThe DNA damage in GG-NER is recognized by the joint action of two protein complexes. The first complex is composed of XPC, RAD23A or RAD23B and CETN2. The second complex, known as the UV-DDB complex,...
  • HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
    HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) of replication-independent DNA double strand breaks (DSBs) via homologous recombination repair (HRR) or single strand annealing (SSA) requires the activation of ATM fol...
  • HDR through Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
    HDR through Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) through single strand annealing (SSA), similar to HDR through homologous recombination repair (HRR), involves extensive resection of DNA double strand break ends (DSBs)...
  • Homology Directed Repair, organism-specific biosystem (from REACTOME)
    Homology Directed Repair, organism-specific biosystemHomology directed repair (HDR) of DNA double strand breaks (DSBs) requires resection of DNA DSB ends. Resection creates 3'-ssDNA overhangs which then anneal with a homologous DNA sequence. This homol...
  • Nucleotide Excision Repair, organism-specific biosystem (from REACTOME)
    Nucleotide Excision Repair, organism-specific biosystemNucleotide excision repair (NER) 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 recove...
  • 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 Nucleotide Excision Repair (TC-NER), organism-specific biosystem (from REACTOME)
    Transcription-Coupled Nucleotide Excision Repair (TC-NER), organism-specific biosystemDNA damage in transcribed strands of active genes is repaired through a specialized nucleotide excision repair (NER) pathway known as transcription-coupled nucleotide excision repair (TC-NER). TC-NER...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
TFIID-class transcription factor binding IEA
Inferred from Electronic Annotation
more info
 
damaged DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
single-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to single-stranded DNA endodeoxyribonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to structure-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
DNA recombination IGI
Inferred from Genetic Interaction
more info
PubMed 
DNA repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
UV protection IEA
Inferred from Electronic Annotation
more info
 
cell proliferation IEA
Inferred from Electronic Annotation
more info
 
double-strand break repair IEA
Inferred from Electronic Annotation
more info
 
embryonic organ development IEA
Inferred from Electronic Annotation
more info
 
global genome nucleotide-excision repair TAS
Traceable Author Statement
more info
 
interstrand cross-link repair TAS
Traceable Author Statement
more info
 
isotype switching IEA
Inferred from Electronic Annotation
more info
 
male gonad development IEA
Inferred from Electronic Annotation
more info
 
mitotic recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
multicellular organism aging IEA
Inferred from Electronic Annotation
more info
 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
negative regulation of telomere maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleotide-excision repair IDA
Inferred from Direct Assay
more info
PubMed 
nucleotide-excision repair IGI
Inferred from Genetic Interaction
more info
PubMed 
nucleotide-excision repair, DNA incision TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, DNA incision, 3'-to lesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleotide-excision repair, DNA incision, 3'-to lesion TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, DNA incision, 5'-to lesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleotide-excision repair, DNA incision, 5'-to lesion TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, preincision complex stabilization TAS
Traceable Author Statement
more info
 
oogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of t-circle formation ISS
Inferred from Sequence or Structural Similarity
more info
 
post-embryonic hemopoiesis IEA
Inferred from Electronic Annotation
more info
 
pyrimidine dimer repair by nucleotide-excision repair IEA
Inferred from Electronic Annotation
more info
 
replicative cell aging IEA
Inferred from Electronic Annotation
more info
 
response to X-ray IEA
Inferred from Electronic Annotation
more info
 
response to nutrient IEA
Inferred from Electronic Annotation
more info
 
response to oxidative stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to sucrose IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
syncytium formation IEA
Inferred from Electronic Annotation
more info
 
t-circle formation ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription-coupled nucleotide-excision repair TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
ERCC4-ERCC1 complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
 
nuclear chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleotide-excision repair complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleotide-excision repair factor 1 complex IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor TFIID complex IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
DNA excision repair protein ERCC-1
Names
excision repair cross-complementation group 1
excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)

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_015839.2 RefSeqGene

    Range
    59910..76496
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166049.1NP_001159521.1  DNA excision repair protein ERCC-1 isoform 3

    See identical proteins and their annotated locations for NP_001159521.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region, compared to variant 2. The resulting isoform (3) lacks an internal segment, compared to isoform 2.
    Source sequence(s)
    AB069681, AC092309, AK314884, BQ019990, BQ671113
    Consensus CDS
    CCDS54279.1
    UniProtKB/Swiss-Prot
    P07992
    Related
    ENSP00000345203, OTTHUMP00000268425, ENST00000340192, OTTHUMT00000459545
    Conserved Domains (2) summary
    TIGR00597
    Location:99210
    rad10; DNA repair protein rad10
    pfam00633
    Location:235264
    HHH; Helix-hairpin-helix motif
  2. NM_001983.3NP_001974.1  DNA excision repair protein ERCC-1 isoform 2

    See identical proteins and their annotated locations for NP_001974.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longest transcript and encodes isoform 2.
    Source sequence(s)
    AC092309, AK314884, BC008930, BQ019990, BQ671113
    Consensus CDS
    CCDS12662.1
    UniProtKB/Swiss-Prot
    P07992
    UniProtKB/TrEMBL
    A0A024R0Q6
    Related
    ENSP00000300853, OTTHUMP00000268423, ENST00000300853, OTTHUMT00000459542
    Conserved Domains (2) summary
    TIGR00597
    Location:99210
    rad10; DNA repair protein rad10
    pfam14520
    Location:239291
    HHH_5; Helix-hairpin-helix domain
  3. NM_202001.2NP_973730.1  DNA excision repair protein ERCC-1 isoform 1

    See identical proteins and their annotated locations for NP_973730.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents use of an alternate promoter and 5' UTR and uses a distinct splice pattern in the 3' coding region and 3' UTR, compared to variant 2. The resulting isoform (1) has a longer and distinct C-terminus, compared to isoform 2.
    Source sequence(s)
    AK314884, BC052813, BU627436, DB468563
    Consensus CDS
    CCDS12663.1
    UniProtKB/Swiss-Prot
    P07992
    Related
    ENSP00000013807, OTTHUMP00000268429, ENST00000013807, OTTHUMT00000459549
    Conserved Domains (2) summary
    TIGR00597
    Location:99210
    rad10; DNA repair protein rad10
    pfam14520
    Location:239285
    HHH_5; Helix-hairpin-helix domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p2 Primary Assembly

    Range
    45407333..45478820 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005258636.3XP_005258693.1  

    See identical proteins and their annotated locations for XP_005258693.1

    UniProtKB/Swiss-Prot
    P07992
    Conserved Domains (2) summary
    TIGR00597
    Location:99210
    rad10; DNA repair protein rad10
    pfam14520
    Location:239285
    HHH_5; Helix-hairpin-helix domain
  2. XM_011526610.1XP_011524912.1  

    See identical proteins and their annotated locations for XP_011524912.1

    UniProtKB/Swiss-Prot
    P07992
    Conserved Domains (2) summary
    TIGR00597
    Location:99210
    rad10; DNA repair protein rad10
    pfam14520
    Location:239285
    HHH_5; Helix-hairpin-helix domain
  3. XM_005258635.2XP_005258692.1  

    See identical proteins and their annotated locations for XP_005258692.1

    UniProtKB/Swiss-Prot
    P07992
    Conserved Domains (2) summary
    TIGR00597
    Location:99210
    rad10; DNA repair protein rad10
    pfam14520
    Location:239285
    HHH_5; Helix-hairpin-helix domain
  4. XM_005258634.1XP_005258691.1  

    See identical proteins and their annotated locations for XP_005258691.1

    UniProtKB/Swiss-Prot
    P07992
    Conserved Domains (2) summary
    TIGR00597
    Location:99210
    rad10; DNA repair protein rad10
    pfam14520
    Location:239285
    HHH_5; Helix-hairpin-helix domain
  5. XM_005258637.1XP_005258694.1  

    See identical proteins and their annotated locations for XP_005258694.1

    Conserved Domains (2) summary
    TIGR00597
    Location:99210
    rad10; DNA repair protein rad10
    pfam00633
    Location:235261
    HHH; Helix-hairpin-helix motif

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 Alternate CHM1_1.1

    Range
    45913883..45930469 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)