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

    Gene ID: 2074, updated on 7-Apr-2024

    Summary

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    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; AllianceGenome:HGNC:3438
    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
    mouse all
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    Genomic context

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    See ERCC6 in Genome Data Viewer
    Location:
    10q11.23
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (49434881..49539538, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (50283667..50388257, complement)
    105.20220307 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 ReSE screen-validated silencer GRCh37_chr10:50505091-50505268 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2361 Neighboring gene chromosome 10 open reading frame 71 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:50543527-50544726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50587592-50588092 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2362 Neighboring gene dorsal root ganglia homeobox Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 17 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:50679962-50681161 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3351 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3352 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:50745676-50745864 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2363 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3353 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3354 Neighboring gene piggyBac transposable element derived 3 Neighboring gene high mobility group box 1 pseudogene 50 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50801171-50801672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50801673-50802172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50802781-50803282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50803283-50803782 Neighboring gene Sharpr-MPRA regulatory region 3429 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:50816693-50817488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:50817489-50818283 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:50819328-50820224 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:50820225-50821122 Neighboring gene solute carrier family 18 member A3 Neighboring gene choline O-acetyltransferase

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. ERCC6 plays a promoting role in the progression of non-small cell lung cancer. Luo H, et al. Biochem Cell Biol, 2023 Jun 1. PMID 36802454
    2. A novel heterozygous ERCC6 variant identified in a Chinese family with non-syndromic primary ovarian insufficiency. Kuang L, et al. Mol Genet Genomic Med, 2022 Oct. PMID 35975393, Free PMC Article
    3. Genetic Association of ERCC6 rs2228526 Polymorphism with the Risk of Cancer: Evidence from a Meta-Analysis. Lin X, et al. Biomed Res Int, 2022. PMID 35463969, Free PMC Article
    4. Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B. Zayoud K, et al. Genes (Basel), 2021 Nov 29. PMID 34946871, Free PMC Article
    5. Mechanism of Rad26-assisted rescue of stalled RNA polymerase II in transcription-coupled repair. Yan C, et al. Nat Commun, 2021 Dec 1. PMID 34853308, Free PMC Article

    See all (255) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The CSB chromatin remodeler regulates PARP1- and PARP2-mediated single-strand break repair at actively transcribed DNA regions.
      Title: The CSB chromatin remodeler regulates PARP1- and PARP2-mediated single-strand break repair at actively transcribed DNA regions.
    2. ERCC6 plays a promoting role in the progression of non-small cell lung cancer.
      Title: ERCC6 plays a promoting role in the progression of non-small cell lung cancer.
    3. A novel heterozygous ERCC6 variant identified in a Chinese family with non-syndromic primary ovarian insufficiency.
      Title: A novel heterozygous ERCC6 variant identified in a Chinese family with non-syndromic primary ovarian insufficiency.
    4. Genetic pleiotropy of ERCC6 loss-of-function and deleterious missense variants links retinal dystrophy, arrhythmia, and immunodeficiency in diverse ancestries.
      Title: Genetic pleiotropy of ERCC6 loss-of-function and deleterious missense variants links retinal dystrophy, arrhythmia, and immunodeficiency in diverse ancestries.
    5. Genetic Association of ERCC6 rs2228526 Polymorphism with the Risk of Cancer: Evidence from a Meta-Analysis.
      Title: Genetic Association of ERCC6 rs2228526 Polymorphism with the Risk of Cancer: Evidence from a Meta-Analysis.
    6. MicroRNA Let-7c-5p-Mediated Regulation of ERCC6 Disrupts Autophagic Flux in Age-Related Cataract via the Binding to VCP.
      Title: MicroRNA Let-7c-5p-Mediated Regulation of ERCC6 Disrupts Autophagic Flux in Age-Related Cataract via the Binding to VCP.
    7. Profiling and Integrated Analysis of the ERCC6-regulated circRNA-miRNA-mRNA Network in Lens Epithelial Cells.
      Title: Profiling and Integrated Analysis of the ERCC6-regulated circRNA-miRNA-mRNA Network in Lens Epithelial Cells.
    8. Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B.
      Title: Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B.
    9. Cockayne syndrome group B protein regulates fork restart, fork progression and MRE11-dependent fork degradation in BRCA1/2-deficient cells.
      Title: Cockayne syndrome group B protein regulates fork restart, fork progression and MRE11-dependent fork degradation in BRCA1/2-deficient cells.
    10. Mechanism of Rad26-assisted rescue of stalled RNA polymerase II in transcription-coupled repair.
      Title: Mechanism of Rad26-assisted rescue of stalled RNA polymerase II in transcription-coupled repair.
    Submit: New GeneRIF Correction See all GeneRIFs (155)

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Age related macular degeneration 5
    MedGen: C3151063 OMIM: 613761 GeneReviews: Not available
    		Compare labs
    Cerebrooculofacioskeletal syndrome 1
    MedGen: C0220722 OMIM: 214150 GeneReviews: Not available
    		Compare labs
    Cockayne syndrome type 2
    MedGen: C0751038 OMIM: 133540 GeneReviews: Cockayne Syndrome
    		Compare labs
    DE SANCTIS-CACCHIONE SYNDROME
    MedGen: C0265201 OMIM: 278800 GeneReviews: Not available
    		Compare labs
    Lung cancer
    MedGen: C0242379 OMIM: 211980 GeneReviews: Not available
    		Compare labs
    Premature ovarian failure 11
    MedGen: C4310783 OMIM: 616946 GeneReviews: Not available
    		Compare labs
    UV-sensitive syndrome 1
    MedGen: C3551173 OMIM: 600630 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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 ATP-dependent activity, acting on DNA IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ATP-dependent activity, acting on DNA IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ATP-dependent activity, acting on DNA IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables ATP-dependent chromatin remodeler activity 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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein tyrosine kinase activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage checkpoint signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in DNA protection IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 chromatin remodeling NAS
    Non-traceable Author Statement
    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 transcription by RNA polymerase I NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase III IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription initiation by RNA polymerase II 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 regulation of transcription elongation by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 by RNA polymerase I IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transcription-coupled nucleotide-excision repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in transcription-coupled nucleotide-excision repair IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of B-WICH complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleolus NAS
    Non-traceable Author Statement
    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
    		  
    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

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    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)

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    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_000124.4 → NP_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
      D3DX94, E7EV46, Q03468, Q5W0L9
      UniProtKB/TrEMBL
      A0JP10
      Related
      ENSP00000348089.5, ENST00000355832.10
      Conserved Domains (3) summary
      COG0553
      Location:459 → 1007
      HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
      cd18000
      Location:507 → 694
      DEXHc_ERCC6; DEXH-box helicase domain of ERCC6
      cd21397
      Location:83 → 159
      cc_ERCC-6_N; coiled-coil domain located near the N-terminus of human Excision Repair Cross Complementing 6 (ERCC-6) and related proteins

    2. NM_001277058.2 → NP_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 (3) summary
      pfam13843
      Location:609 → 967
      DDE_Tnp_1_7; Transposase IS4
      cd21397
      Location:83 → 159
      cc_ERCC-6_N; coiled-coil domain located near the N-terminus of human Excision Repair Cross Complementing 6 (ERCC-6) and related proteins
      cl00040
      Location:1019 → 1055
      C1; protein kinase C conserved region 1 (C1 domain) superfamily

    3. NM_001277059.2 → NP_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 (3) summary
      pfam13843
      Location:609 → 967
      DDE_Tnp_1_7; Transposase IS4
      cd21397
      Location:83 → 159
      cc_ERCC-6_N; coiled-coil domain located near the N-terminus of human Excision Repair Cross Complementing 6 (ERCC-6) and related proteins
      cl00040
      Location:1019 → 1055
      C1; protein kinase C conserved region 1 (C1 domain) superfamily

    4. NM_001346440.2 → NP_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
      D3DX94, E7EV46, Q03468, Q5W0L9
      UniProtKB/TrEMBL
      A0JP10
      Conserved Domains (3) summary
      COG0553
      Location:459 → 1007
      HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
      cd18000
      Location:507 → 694
      DEXHc_ERCC6; DEXH-box helicase domain of ERCC6
      cd21397
      Location:83 → 159
      cc_ERCC-6_N; coiled-coil domain located near the N-terminus of human Excision Repair Cross Complementing 6 (ERCC-6) and related proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      50283667..50388257 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0DP91.1 GenPept UniProtKB/Swiss-Prot:P0DP91
    Q03468.1 GenPept UniProtKB/Swiss-Prot:Q03468

    Gene LinkOut

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

    Other Literature Sources
    Chemical Information
    Medical
    Molecular Biology Databases
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