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

    Gene ID: 2074, updated on 23-Aug-2016
    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 HPRD:00596; MIM:609413; Vega:OTTHUMG00000018195
    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
    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]
    Orthologs
    Location:
    10q11.23
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (49454480..49539538, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (50662526..50747169, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes 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 solute carrier family 18 member A3 Neighboring gene choline O-acetyltransferase Neighboring gene chromosome 10 open reading frame 53

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • B-WICH complex positively regulates rRNA expression, organism-specific biosystem (from REACTOME)
      B-WICH complex positively regulates rRNA expression, organism-specific biosystemThe B-WICH complex is a large 3 Mdalton complex containing SMARCA5 (SNF2H), BAZ1B (WSTF), ERCC6 (CSB), MYO1C (Nuclear myosin 1c) (Cavellan et al. 2006, Percipalle et al. 2006, Vintermist et al. 2001,...
    • 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...
    • ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression, organism-specific biosystem (from REACTOME)
      ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression, organism-specific biosystemAbout half of the rRNA genes in the genome are actively expressed, being transcribed by RNA polymerase I (reviewed in Nemeth and Langst 2008, Bartova et al. 2010, Goodfellow and Zomerdijk 2012, Grumm...
    • Epigenetic regulation of gene expression, organism-specific biosystem (from REACTOME)
      Epigenetic regulation of gene expression, organism-specific biosystemEpigenetic processes regulate gene expression by modulating the frequency, rate, or extent of gene expression in a mitotically or meiotically heritable way that does not entail a change in the DNA se...
    • 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...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • 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 ...
    • Positive epigenetic regulation of rRNA expression, organism-specific biosystem (from REACTOME)
      Positive epigenetic regulation of rRNA expression, organism-specific biosystemTranscription of rRNA genes is controlled by epigenetic activation and repression (reviewed in Percipalle and Farrants 2006, McStay and Grummt 2008, Goodfellow and Zomerdijk 2012, Grummt and Langst 2...
    • RNA Polymerase I Promoter Clearance, organism-specific biosystem (from REACTOME)
      RNA Polymerase I Promoter Clearance, organism-specific biosystemPromoter clearance is one of the rate-limiting steps in Polymerase I transcription. This step is composed of three phases, promoter opening, transcription initiation and promoter escape.
    • RNA Polymerase I Transcription, organism-specific biosystem (from REACTOME)
      RNA Polymerase I Transcription, organism-specific biosystemThe rRNA genes are transcribed by RNA polymerase I, one of three eukaryotic nuclear RNA polymerases. The polymerase is a multisubunit complex, composed of two large subunits (the most conserved porti...
    • RNA Polymerase I Transcription Initiation, organism-specific biosystem (from REACTOME)
      RNA Polymerase I Transcription Initiation, organism-specific biosystemDuring initiation the double-stranded DNA must be melted and transcription begins. SL1 forms and interacts with UBF-1 and the rDNA promoter. It is this platform that will recruit active RNA polymeras...
    • RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription, organism-specific biosystem (from REACTOME)
      RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription, organism-specific biosystemTranscription by RNA Polymerase I, RNA Polymerase III and transcription from mitochondrial promoters.
    • 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

    Clone Names

    • FLJ77465, MGC26346

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT DNA helicase activity IDA
    Inferred from Direct Assay
    more info
     
    DNA-dependent ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein C-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein N-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein tyrosine kinase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    activation of JNKK activity IEA
    Inferred from Electronic Annotation
    more info
     
    activation of JUN kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    base-excision repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intrinsic apoptotic signaling pathway in response to DNA damage IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    photoreceptor cell maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of DNA-templated transcription, elongation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of gene expression, epigenetic TAS
    Traceable Author Statement
    more info
     
    positive regulation of protein tyrosine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    pyrimidine dimer repair IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of DNA-templated transcription, elongation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to UV IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to UV-B IEA
    Inferred from Electronic Annotation
    more info
     
    response to X-ray IEA
    Inferred from Electronic Annotation
    more info
     
    response to gamma radiation IEA
    Inferred from Electronic Annotation
    more info
     
    response to oxidative stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to oxidative stress IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    response to superoxide IEA
    Inferred from Electronic Annotation
    more info
     
    response to toxic substance IEA
    Inferred from Electronic Annotation
    more info
     
    transcription elongation from RNA polymerase I promoter IEA
    Inferred from Electronic Annotation
    more info
     
    transcription from RNA polymerase II promoter NAS
    Non-traceable Author Statement
    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
    nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription elongation factor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    DNA excision repair protein ERCC-6; ERCC6-PGBD3 fusion protein
    Names
    ATP-dependent helicase ERCC6
    Cockayne syndrome group B protein
    ERCC6-PGBD3 fusion protein (isoform 1)
    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

    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_000124.3NP_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, OTTHUMP00000019581, ENST00000355832, OTTHUMT00000047990
      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_001277058.1NP_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)
      AK291018, AL138760, DA579401
      Consensus CDS
      CCDS60529.1
      UniProtKB/TrEMBL
      A8K4Q3, E7EV46
      Related
      ENSP00000387966, OTTHUMP00000245834, ENST00000447839, OTTHUMT00000413018
      Conserved Domains (2) summary
      pfam13842
      Location:10301053
      Tnp_zf-ribbon_2; DDE_Tnp_1-like zinc-ribbon
      pfam13843
      Location:609967
      DDE_Tnp_1_7; Transposase IS4
    3. NM_001277059.1NP_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
      Q8N328
      UniProtKB/TrEMBL
      A8K4Q3, E7EV46
      Related
      ENSP00000423550, OTTHUMP00000245835, ENST00000515869, OTTHUMT00000413019
      Conserved Domains (2) summary
      pfam13842
      Location:10301053
      Tnp_zf-ribbon_2; DDE_Tnp_1-like zinc-ribbon
      pfam13843
      Location:609967
      DDE_Tnp_1_7; Transposase IS4

    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_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      49454480..49539538 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      50944706..51029689 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)