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    ERCC8 excision repair cross-complementation group 8 [ Homo sapiens (human) ]

    Gene ID: 1161, updated on 3-Jan-2016
    Official Symbol
    ERCC8provided by HGNC
    Official Full Name
    excision repair cross-complementation group 8provided by HGNC
    Primary source
    HGNC: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; UVSS2
    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. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
    Orthologs
    See ERCC8 in Epigenomics, MapViewer
    Location:
    5q12.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 5 NC_000005.10 (60873832..60945078, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (60169659..60240905, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene keratin 8 pseudogene 31 Neighboring gene ELOVL fatty acid elongase 7 Neighboring gene uncharacterized LOC105378991 Neighboring gene guanine nucleotide binding protein-like 3 (nucleolar)-like pseudogene 1 Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 2 Neighboring gene uncharacterized LOC101928630 Neighboring gene small integral membrane protein 15

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Cul4-DDB1-CSA complex, organism-specific biosystem (from KEGG)
      Cul4-DDB1-CSA complex, organism-specific biosystemStructural complex; Genetic information processing; Ubiquitin system
    • Cul4-DDB1-CSA complex, conserved biosystem (from KEGG)
      Cul4-DDB1-CSA complex, conserved 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. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
    • 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...
    • Formation of TC-NER Pre-Incision Complex, organism-specific biosystem (from REACTOME)
      Formation of TC-NER Pre-Incision Complex, organism-specific biosystemFormation of TC-NER pre-incision complex is initiated when the RNA polymerase II (RNA Pol II) complex stalls at a DNA damage site. The stalling is caused by misincorporation of a ribonucleotide oppos...
    • Gap-filling DNA repair synthesis and ligation in TC-NER, organism-specific biosystem (from REACTOME)
      Gap-filling DNA repair synthesis and ligation in TC-NER, organism-specific biosystemIn transcription-coupled nucleotide excision repair (TC-NER), similar to global genome nucleotide excision repair (GG-NER), DNA polymerases delta or epsilon, or the Y family DNA polymerase kappa, fil...
    • 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...
    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ12595

    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 transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA repair TAS
    Traceable Author Statement
    more info
     
    cellular response to DNA damage stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 
    proteasome-mediated 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 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 E3 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 
    Preferred Names
    DNA excision repair protein ERCC-8
    Names
    Cockayne syndrome WD-repeat protein CSA
    cockayne syndrome WD repeat protein CSA
    excision repair cross-complementing rodent repair deficiency complementation group 8
    excision repair cross-complementing rodent repair deficiency, complementation group 8

    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), LRG_466

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_000073.1

      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 (2) summary
      COG2319
      Location:40370
      WD40; WD40 repeat [General function prediction only]
      cl02567
      Location:40361
      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 ...
    2. NM_001007233.2NP_001007234.1  DNA excision repair protein ERCC-8 isoform 2

      See identical proteins and their annotated locations for NP_001007234.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an additional exon in the 5' region and uses a downstream AUG start codon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AK056931, DA169067
      UniProtKB/TrEMBL
      B3KPW7
      Conserved Domains (2) summary
      COG2319
      Location:1312
      WD40; WD40 repeat [General function prediction only]
      cl02567
      Location:1303
      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 ...
    3. NM_001007234.2NP_001007235.1  DNA excision repair protein ERCC-8 isoform 3

      See identical proteins and their annotated locations for NP_001007235.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks several 3' exons and has an alternate 3' end compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC022445, BC009793, DA169067
      UniProtKB/Swiss-Prot
      Q13216
      Conserved Domains (2) summary
      COG2319
      Location:42184
      WD40; WD40 repeat [General function prediction only]
      cl02567
      Location:40184
      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 ...
    4. NM_001290285.1NP_001277214.1  DNA excision repair protein ERCC-8 isoform 4

      See identical proteins and their annotated locations for NP_001277214.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate internal exon and uses a downstream AUG start codon compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AK056931, AK294856, DA169067
      UniProtKB/TrEMBL
      B3KPW7
      UniProtKB/TrEMBL
      B4DGZ9
      Conserved Domains (2) summary
      COG2319
      Location:2217
      WD40; WD40 repeat [General function prediction only]
      cl02567
      Location:15208
      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: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p2 Primary Assembly

      Range
      60873832..60945078 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      60169330..60240587 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)