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

    Gene ID: 2067, updated on 20-Aug-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:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (45407333..45478866, 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 FosB proto-oncogene, AP-1 transcription factor subunit Neighboring gene uncharacterized LOC107985314 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
      pfam03834
      Location:100213
      Rad10; Binding domain of DNA repair protein Ercc1 (rad10/Swi10)
      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
      pfam03834
      Location:100213
      Rad10; Binding domain of DNA repair protein Ercc1 (rad10/Swi10)
      pfam14520
      Location:239285
      HHH_5; Helix-hairpin-helix domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

      Range
      45407333..45478866 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017026464.1XP_016881953.1  

      Conserved Domains (2) summary
      pfam03834
      Location:100213
      Rad10; Binding domain of DNA repair protein Ercc1 (rad10/Swi10)
      pfam14520
      Location:239291
      HHH_5; Helix-hairpin-helix domain
    2. XM_017026463.1XP_016881952.1  

      Conserved Domains (2) summary
      pfam03834
      Location:100213
      Rad10; Binding domain of DNA repair protein Ercc1 (rad10/Swi10)
      pfam14520
      Location:239291
      HHH_5; Helix-hairpin-helix domain
    3. XM_017026462.1XP_016881951.1  

      Conserved Domains (2) summary
      pfam03834
      Location:100213
      Rad10; Binding domain of DNA repair protein Ercc1 (rad10/Swi10)
      pfam14520
      Location:239291
      HHH_5; Helix-hairpin-helix domain
    4. XM_017026466.1XP_016881955.1  

    5. XM_017026461.1XP_016881950.1  

      Related
      ENSP00000467183, OTTHUMP00000268433, ENST00000592083, OTTHUMT00000459554
      Conserved Domains (2) summary
      pfam03834
      Location:100213
      Rad10; Binding domain of DNA repair protein Ercc1 (rad10/Swi10)
      pfam14520
      Location:239291
      HHH_5; Helix-hairpin-helix domain
    6. XM_017026465.1XP_016881954.1  

    7. XM_017026460.1XP_016881949.1  

      Related
      ENSP00000468035, OTTHUMP00000268428, ENST00000589165, OTTHUMT00000459548
      Conserved Domains (2) summary
      pfam03834
      Location:100213
      Rad10; Binding domain of DNA repair protein Ercc1 (rad10/Swi10)
      pfam14520
      Location:239291
      HHH_5; Helix-hairpin-helix domain
    8. XM_005258636.4XP_005258693.1  

      See identical proteins and their annotated locations for XP_005258693.1

      UniProtKB/Swiss-Prot
      P07992
      Conserved Domains (2) summary
      pfam03834
      Location:100213
      Rad10; Binding domain of DNA repair protein Ercc1 (rad10/Swi10)
      pfam14520
      Location:239285
      HHH_5; Helix-hairpin-helix domain
    9. XM_017026459.1XP_016881948.1  

      Conserved Domains (2) summary
      pfam03834
      Location:100213
      Rad10; Binding domain of DNA repair protein Ercc1 (rad10/Swi10)
      pfam14520
      Location:239285
      HHH_5; Helix-hairpin-helix domain
    10. XM_011526610.2XP_011524912.1  

      See identical proteins and their annotated locations for XP_011524912.1

      UniProtKB/Swiss-Prot
      P07992
      Conserved Domains (2) summary
      pfam03834
      Location:100213
      Rad10; Binding domain of DNA repair protein Ercc1 (rad10/Swi10)
      pfam14520
      Location:239285
      HHH_5; Helix-hairpin-helix domain
    11. XM_005258635.2XP_005258692.1  

      See identical proteins and their annotated locations for XP_005258692.1

      UniProtKB/Swiss-Prot
      P07992
      Conserved Domains (2) summary
      pfam03834
      Location:100213
      Rad10; Binding domain of DNA repair protein Ercc1 (rad10/Swi10)
      pfam14520
      Location:239285
      HHH_5; Helix-hairpin-helix domain
    12. XM_005258634.1XP_005258691.1  

      See identical proteins and their annotated locations for XP_005258691.1

      UniProtKB/Swiss-Prot
      P07992
      Conserved Domains (2) summary
      pfam03834
      Location:100213
      Rad10; Binding domain of DNA repair protein Ercc1 (rad10/Swi10)
      pfam14520
      Location:239285
      HHH_5; Helix-hairpin-helix domain
    13. 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

    RNA

    1. XR_001753632.1 RNA Sequence

    2. XR_001753631.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

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