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    ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit [ Homo sapiens (human) ]

    Gene ID: 1161, updated on 11-Jul-2021

    Summary

    Official Symbol
    ERCC8provided by HGNC
    Official Full Name
    ERCC excision repair 8, CSA ubiquitin ligase complex subunitprovided by HGNC
    Primary source
    HGNC:HGNC:3439
    See related
    Ensembl:ENSG00000049167 MIM:609412
    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]
    Expression
    Ubiquitous expression in testis (RPKM 4.1), thyroid (RPKM 3.2) and 25 other tissues See more
    Orthologs
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    Genomic context

    See ERCC8 in Genome Data Viewer
    Location:
    5q12.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (60866454..60945070, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (60162281..60240897, 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 G protein nucleolar 3 like pseudogene 1 Neighboring gene ERCC8 antisense RNA 1 Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 2 Neighboring gene SMIM15 antisense RNA 1 Neighboring gene small integral membrane protein 15

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ12595

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to ubiquitin-protein transferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to DNA damage stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in double-strand break repair via classical nonhomologous end joining IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein autoubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein polyubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein polyubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of transcription-coupled nucleotide-excision repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to UV IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to oxidative stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in single strand break repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in transcription-coupled nucleotide-excision repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within transcription-coupled nucleotide-excision repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of Cul4-RING E3 ubiquitin ligase complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    part_of Cul4A-RING E3 ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of Cul4A-RING E3 ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    part_of nucleotide-excision repair complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of nucleotide-excision repair complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    DNA excision repair protein ERCC-8
    Names
    Cockayne syndrome WD-repeat protein CSA
    cockayne syndrome WD repeat protein CSA
    excision repair cross-complementation group 8
    excision repair cross-complementing rodent repair deficiency, complementation group 8

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000082.4NP_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
      ENSP00000501614.1, ENST00000676185.1
      Conserved Domains (2) summary
      sd00039
      Location:4797
      7WD40; WD40 repeat [structural motif]
      cl29593
      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_001007233.3NP_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)
      AC104113, AK056931, DA169067
      UniProtKB/TrEMBL
      B3KPW7
      Related
      ENSP00000502082.2, ENST00000675042.2
      Conserved Domains (2) summary
      sd00039
      Location:4483
      7WD40; WD40 repeat [structural motif]
      cl29593
      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_001007234.3NP_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
      UniProtKB/TrEMBL
      A0A0S2Z3L1
      Related
      ENSP00000502154.1, ENST00000675229.1
      Conserved Domains (2) summary
      sd00039
      Location:4796
      7WD40; WD40 repeat [structural motif]
      cl25539
      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_001290285.2NP_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)
      AC104113, AK056931, AK294856, DA169067
      UniProtKB/TrEMBL
      B3KPW7, B4DGZ9
      Conserved Domains (2) summary
      sd00039
      Location:3790
      7WD40; WD40 repeat [structural motif]
      cl29593
      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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      60866454..60945070 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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