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

Gene ID: 2074, updated on 9-Apr-2023

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_03 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (49434881..49539538, complement)
RS_2023_03 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 CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:50543527-50544726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50587592-50588092 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 piggyBac transposable element derived 3 Neighboring gene high mobility group box 1 pseudogene 50 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50801171-50801672

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. 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
  2. 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
  3. 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
  4. 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
  5. Neuroblastoma Cells Depend on CSB for Faithful Execution of Cytokinesis and Survival. Paccosi E, et al. Int J Mol Sci, 2021 Sep 17. PMID 34576232, Free PMC Article

See all (253) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation.
    Title: Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation.
  10. Neuroblastoma Cells Depend on CSB for Faithful Execution of Cytokinesis and Survival.
    Title: Neuroblastoma Cells Depend on CSB for Faithful Execution of Cytokinesis and Survival.
Submit: New GeneRIF Correction See all GeneRIFs (153)

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
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Cerebrooculofacioskeletal syndrome 1
MedGen: C0220722 OMIM: 214150 GeneReviews: Not available
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Cockayne syndrome type 2
MedGen: C0751038 OMIM: 133540 GeneReviews: Cockayne Syndrome
Compare labs
DE SANCTIS-CACCHIONE SYNDROME
MedGen: C0265201 OMIM: 278800 GeneReviews: Not available
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Lung cancer
MedGen: C0242379 OMIM: 211980 GeneReviews: Not available
Compare labs
Premature ovarian failure 11
MedGen: C4310783 OMIM: 616946 GeneReviews: Not available
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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
 PubMed 
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 histone acetylation NAS
Non-traceable Author Statement
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
 PubMed 
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
 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

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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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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
    Q03468, Q5W0L9
    UniProtKB/TrEMBL
    Q59FF6
    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
    Q03468, Q5W0L9
    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_03

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

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