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ERCC6 excision repair cross-complementation group 6 [ Homo sapiens (human) ]

Gene ID: 2074, updated on 19-Dec-2014
Official Symbol
ERCC6provided by HGNC
Official Full Name
excision repair cross-complementation group 6provided 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; 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. Naturally-occurring readthrough transcription occurs between this gene and the adjacent PGBD3 gene (GeneID:267004), and results in a fusion protein that shares sequence with the product of each individual gene. The readthrough locus is represented by GeneID:101243544. [provided by RefSeq, Mar 2013]
See ERCC6 in Epigenomics, MapViewer
Location:
10q11.23
Exon count:
21
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 10 NC_000010.11 (49454480..49539123, 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 60kDa protein 1 (chaperonin) pseudogene 17 Neighboring gene ERCC6-PGBD3 readthrough Neighboring gene piggyBac transposable element derived 3 Neighboring gene solute carrier family 18 (vesicular acetylcholine transporter), member 3 Neighboring gene choline O-acetyltransferase Neighboring gene chromosome 10 open reading frame 53

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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. These cellular mechanisms that must cope with the plethora of DNA base pair ad...
  • Dual incision reaction in TC-NER, organism-specific biosystem (from REACTOME)
    Dual incision reaction in TC-NER, organism-specific biosystemDual incisions are carried out by XPG, and ERCC1-XPF complex as seen in GG-NER.
  • Formation of transcription-coupled NER (TC-NER) repair complex, organism-specific biosystem (from REACTOME)
    Formation of transcription-coupled NER (TC-NER) repair complex, organism-specific biosystemThe 'road block' induced by the DNA damage to the transcription machinery triggers assembly of a transcription couple repair complex, whose composition and function are yet to fully understood. Da...
  • 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 biosystemNER 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 recovery of DNA synthesis and cell ...
  • 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 ...
  • 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 NER (TC-NER), organism-specific biosystem (from REACTOME)
    Transcription-coupled NER (TC-NER), organism-specific biosystemThe preferential repair of UV-induced damage in transcribed strands of active genes is known as Transcription-coupled NER (TC-NER). Impairment of the ability for TC-NER results in the onset of a sev...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Readthrough ERCC6-PGBD3

Readthrough gene: ERCC6-PGBD3, Included gene: PGBD3

Homology

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
PubMed 
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
ATP catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
DNA repair TAS
Traceable Author Statement
more info
 
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
 
nucleotide-excision repair TAS
Traceable Author Statement
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 protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
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
Names
DNA excision repair protein ERCC-6
ATP-dependent helicase ERCC6
cockayne syndrome protein CSB
Cockayne syndrome group B protein
excision repair cross-complementing rodent repair deficiency, complementation group 6

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 

    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

    See proteins identical to NP_000115.1

    Status: REVIEWED

    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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000010.11 

    Range
    49454480..49539123
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 

    Range
    50944706..51029274
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000142.1 

    Range
    44927342..45011950
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)