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    ERCC6 ERCC excision repair 6, chromatin remodeling factor [ Homo sapiens (human) ]

    Gene ID: 2074, updated on 19-Jul-2021

    Summary

    Official Symbol
    ERCC6provided by HGNC
    Official Full Name
    ERCC excision repair 6, chromatin remodeling factorprovided by HGNC
    Primary source
    HGNC:HGNC:3438
    See related
    Ensembl:ENSG00000225830 MIM:609413
    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
    CSB; CKN2; COFS; ARMD5; COFS1; POF11; RAD26; UVSS1; CSB-PGBD3
    Summary
    This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016]
    Expression
    Ubiquitous expression in thyroid (RPKM 2.7), skin (RPKM 2.1) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ERCC6 in Genome Data Viewer
    Location:
    10q11.23
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (49434881..49539538, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (50642927..50747584, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene C10orf71 antisense RNA 1 Neighboring gene chromosome 10 open reading frame 71 Neighboring gene dorsal root ganglia homeobox Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 17 Neighboring gene piggyBac transposable element derived 3 Neighboring gene high mobility group box 1 pseudogene 50 Neighboring gene Sharpr-MPRA regulatory region 3429

    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

    • FLJ77465, MGC26346

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATPase, acting on DNA IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables ATPase, acting on DNA IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATPase, acting on DNA IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT enables DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chromatin binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables nucleosome-dependent ATPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein C-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein N-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein tyrosine kinase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in ATP-dependent chromatin remodeling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in DNA damage checkpoint signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in JNK cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in base-excision repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in double-strand break repair via classical nonhomologous end joining IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in intrinsic apoptotic signaling pathway in response to DNA damage IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of double-strand break repair via nonhomologous end joining IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neurogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neuron projection development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in photoreceptor cell maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of DNA repair IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription, elongation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of double-strand break repair via homologous recombination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein tyrosine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription initiation from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pyrimidine dimer repair IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of DNA-templated transcription, elongation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to UV IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to UV-B IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to X-ray IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to gamma radiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to oxidative stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within response to oxidative stress IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in response to superoxide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to toxic substance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in single strand break repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in transcription by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in transcription elongation from RNA polymerase I promoter IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transcription-coupled nucleotide-excision repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in transcription-coupled nucleotide-excision repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in site of DNA damage IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription elongation factor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    DNA excision repair protein ERCC-6; ERCC6-PGBD3 fusion protein
    Names
    ATP-dependent helicase ERCC6
    Chimeric CSB-PGBD3 protein
    Chimeric ERCC6-PGBD3 protein
    Cockayne syndrome group B protein
    cockayne syndrome protein CSB
    excision repair cross-complementation group 6
    excision repair cross-complementing rodent repair deficiency, complementation group 6
    NP_000115.1
    NP_001263987.1
    NP_001263988.1
    NP_001333369.1

    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_009442.1 RefSeqGene

      Range
      4979..89622
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_465

    mRNA and Protein(s)

    1. NM_000124.4NP_000115.1  DNA excision repair protein ERCC-6 isoform 2

      See identical proteins and their annotated locations for NP_000115.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longer protein (isoform 2).
      Source sequence(s)
      AB209504, AC073366, AL138760, DA457690, L04791
      Consensus CDS
      CCDS7229.1
      UniProtKB/Swiss-Prot
      Q03468
      UniProtKB/TrEMBL
      Q59FF6
      Related
      ENSP00000348089.5, ENST00000355832.10
      Conserved Domains (3) summary
      cd00046
      Location:527677
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      cd00079
      Location:830960
      HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
      pfam00176
      Location:510812
      SNF2_N; SNF2 family N-terminal domain
    2. NM_001277058.2NP_001263987.1  ERCC6-PGBD3 fusion protein isoform 1

      See identical proteins and their annotated locations for NP_001263987.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) contains an alternate 3' terminal exon, compared to variant 3. It is generated as a result of splicing of ERCC6 exon 5 to the 3' splice site upstream of the PGBD3 ORF that activates the alternative polyadenylation site downstream of the PGBD3 ORF. The resulting protein (isoform 1, ERCC6-PGBD3 fusion protein) is shorter and has a distinct C-terminus, compared to isoform 2.
      Source sequence(s)
      AC073366, AK291018, AL138760
      Consensus CDS
      CCDS60529.1
      UniProtKB/Swiss-Prot
      P0DP91
      UniProtKB/TrEMBL
      A8K4Q3
      Related
      ENSP00000387966.2, ENST00000447839.7
      Conserved Domains (1) summary
      pfam13843
      Location:609967
      DDE_Tnp_1_7; Transposase IS4
    3. NM_001277059.2NP_001263988.1  ERCC6-PGBD3 fusion protein isoform 1

      See identical proteins and their annotated locations for NP_001263988.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and contains an alternate 3' terminal exon, compared to variant 3. It is generated as a result of splicing of ERCC6 exon 5 to the 3' splice site upstream of the PGBD3 ORF that activates the alternative polyadenylation site downstream of the PGBD3 ORF. The resulting protein (isoform 1, ERCC6-PGBD3 fusion protein) is shorter and has a distinct C-terminus, compared to isoform 2.
      Source sequence(s)
      AK291018, AL138760, BC034479
      Consensus CDS
      CCDS60529.1
      UniProtKB/Swiss-Prot
      P0DP91
      UniProtKB/TrEMBL
      A8K4Q3
      Related
      ENSP00000423550.1, ENST00000515869.1
      Conserved Domains (1) summary
      pfam13843
      Location:609967
      DDE_Tnp_1_7; Transposase IS4
    4. NM_001346440.2NP_001333369.1  DNA excision repair protein ERCC-6 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4 ) uses an alternate splice site in the 5' UTR, compared to variant 3, and encodes isoform 2. Variants 3 and 4 encode the same protein (isoform 2).
      Source sequence(s)
      AC073366, AL138760, DA457690, L04791
      Consensus CDS
      CCDS7229.1
      UniProtKB/Swiss-Prot
      Q03468

    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_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      49434881..49539538 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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