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    ERCC8 excision repair cross-complementing rodent repair deficiency, complementation group 8 [ Homo sapiens ]

    Gene ID: 1161, updated on 11-May-2012
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    Summary

    Official Symbol
    ERCC8provided by HGNC
    Official Full Name
    excision repair cross-complementing rodent repair deficiency, complementation group 8provided by HGNC
    Primary source
    HGNC:3439
    See related
    Ensembl:ENSG00000049167; HPRD:07523; MIM:609412; Vega:OTTHUMG00000097741
    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
    CSA; CKN1
    Summary
    This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    5q12.1
    Sequence :
    Chromosome: 5; NC_000005.9 (60169659..60240905, complement)
    See ERCC8 in Epigenomics, MapViewer

    Chromosome 5 - NC_000005.9Genomic Context describing neighboring genes Neighboring gene keratin 8 pseudogene 31 Neighboring gene ELOVL fatty acid elongase 7 Neighboring gene guanine nucleotide binding protein-like 3 (nucleolar)-like pseudogene 1 Neighboring gene NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 Neighboring gene chromosome 5 open reading frame 43

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Overproduction, purification, crystallization and preliminary X-ray diffraction analysis of Cockayne syndrome protein A in complex with DNA damage-binding protein 1. Meulenbroek EM, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun, 2012 Jan 1. PMID 22232169.
    2. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    3. A directed protein interaction network for investigating intracellular signal transduction. Vinayagam A, et al. Sci Signal, 2011 Sep 6. PMID 21900206.
    4. Detecting UV-lesions in the genome: The modular CRL4 ubiquitin ligase does it best! Scrima A, et al. FEBS Lett, 2011 Sep 16. PMID 21550341.
    5. High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel. Khayat M, et al. Am J Med Genet A, 2010 Dec. PMID 21108394.

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. crystals of CSA-DDB1 had unit-cell parameters a = b = 142.03, c = 250.19 A and diffracted to 2.9 A resolution on beamline ID14-1
      Title: Overproduction, purification, crystallization and preliminary X-ray diffraction analysis of Cockayne syndrome protein A in complex with DNA damage-binding protein 1.
    2. Studies indicate the modular architecture of DDB1-CUL4 in complex with DDB2, CSA and CDT2 in DNA repair of UV-induced DNA lesions.
      Title: Detecting UV-lesions in the genome: The modular CRL4 ubiquitin ligase does it best!
    3. High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in northern Israel is reported.
      Title: High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel.
    4. role in protect from aging- and stress-induced mtDNA mutations and apoptosis-mediated loss of subcutaneous fat, a hallmark of aging
      Title: Proteins of nucleotide and base excision repair pathways interact in mitochondria to protect from loss of subcutaneous fat, a hallmark of aging.
    5. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: XPC genetic polymorphisms correlate with the response to imatinib treatment in patients with chronic phase chronic myeloid leukemia.
    6. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk.
    7. The 45 published mutations in CSA and CSB to date and 43 new mutations in these genes together with the corresponding clinical data, are reported.
      Title: Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
    8. Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
      Title: Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Variation within DNA repair pathway genes and risk of multiple sclerosis.
    10. Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
      Title: Comprehensive analysis of DNA repair gene variants and risk of meningioma.
    Submit: New GeneRIF Correction See all (18)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Cockayne syndrome, type A

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q13216 P16152 CBR1    HPRD  PubMed  
    Q13216 Q16531 DDB1    HPRD  PubMed  
    Q13216 Q03468 ERCC6    HPRD  PubMed  
    Q13216 Q13888 GTF2H2    HPRD  PubMed  
    Q13216 O14949 UQCRQ    HPRD  PubMed  
    Q13216 Q9HCS7 XAB2    HPRD  PubMed  
    BioGRID:107581 BioGRID:116183 COPS5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107581 BioGRID:116176 COPS6    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107581 BioGRID:107843 CSNK2B    BioGRID  PubMed Two-hybrid 
    BioGRID:107581 BioGRID:114029 CUL4A    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107581 BioGRID:114028 CUL4B    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107581 BioGRID:108009 DDB1    BioGRID  PubMed Affinity Capture-MS; Reconstituted Complex 
    BioGRID:107581 BioGRID:199074 Ddb1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107581 BioGRID:108386 ERCC6    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107581 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107581 BioGRID:121273 XAB2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Cul4-DDB1-CSA complex, organism-specific biosystem (from KEGG)
      Cul4-DDB1-CSA complex, organism-specific biosystemStructural complex; Genetic information processing; Ubiquitin system
    • 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 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 transcription-coupled NER (TC-NER) repair complex, organism-specific biosystem (from REACTOME)
      Formation of transcription-coupled NER (TC-NER) repair complex, organism-specific biosystemThe ââ?¬Å?road blockââ?¬Â? 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 under...
    • 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...
    • Ubiquitin mediated proteolysis, organism-specific biosystem (from KEGG)
      Ubiquitin mediated proteolysis, organism-specific biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
    • Ubiquitin mediated proteolysis, conserved biosystem (from KEGG)
      Ubiquitin mediated proteolysis, conserved biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT DNA-dependent ATPase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    protein complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    contributes_to ubiquitin-protein ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    DNA repair TAS
    Traceable Author Statement
    more info
    		  
    nucleotide-excision repair IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    nucleotide-excision repair TAS
    Traceable Author Statement
    more info
    		  
    positive regulation of DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    proteasomal ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein autoubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein polyubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    response to DNA damage stimulus IDA
    Inferred from Direct Assay
    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 X-ray IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to oxidative stress IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    transcription-coupled nucleotide-excision repair IDA
    Inferred from Direct Assay
    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
    Cul4A-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    nuclear matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    nucleotide-excision repair complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    soluble fraction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    DNA excision repair protein ERCC-8
    Names
    DNA excision repair protein ERCC-8
    Cockayne syndrome WD-repeat protein CSA
    cockayne syndrome WD repeat protein CSA
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    NCBI Reference Sequences (RefSeq)

    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_009289.1 RefSeqGene

      Range
      5001..76247
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000082.3 → NP_000073.1  DNA excision repair protein ERCC-8 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC104113, DA169067, U28413
      Consensus CDS
      CCDS3978.1
      UniProtKB/Swiss-Prot
      Q13216
      Related
      ENSP00000265038, OTTHUMP00000123367, ENST00000265038, OTTHUMT00000214971
      Conserved Domains (1) summary
      cd00200
      Location:40 – 361
      Blast Score: 323
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000005.9 Reference GRCh37.p5 Primary Assembly

      Range
      60169659..60240905, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000137.1 Alternate HuRef

      Range
      57127788..57199016, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001007233.1: Suppressed sequence

      Description
      NM_001007233.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

    2. NM_001007234.1: Suppressed sequence

      Description
      NM_001007234.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC022445.6 (94246..139092) None
    genomic AC104113.3 None
    genomic AY213194.1 AAO21128.1
    genomic CH471123.1 EAW55003.1
      EAW55004.1
      EAW55005.1
    mRNA AK056931.1 BAG51829.1
    mRNA AK226129.1 None
    mRNA AK290726.1 BAF83415.1
    mRNA AK294856.1 BAG57960.1
    mRNA AK304610.1 BAG65395.1
    mRNA AK314511.1 BAG37111.1
    mRNA AL691658.1 None
    mRNA BC009793.1 AAH09793.1
    mRNA BT020021.1 AAV38824.1
    mRNA CR536563.1 CAG38800.1
    mRNA DA169067.1 None
    mRNA U28413.1 AAA82605.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13216.1 GenPept UniProtKB/Swiss-Prot:Q13216
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
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