ERCC6 excision repair cross-complementing rodent repair deficiency, complementation group 6 [Homo sapiens] - Gene

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Summary

Official Symbol: ERCC6provided by HGNC
Official Full Name: excision repair cross-complementing rodent repair deficiency, complementation group 6provided by HGNC
Primary source: 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
Summary: This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The protein has ATP-stimulated ATPase activity; there are contradictory publications reporting presence or absence of helicase activity. The protein appears to interact with several transcription and excision repair proteins, and may promote complex formation at repair sites. Mutations in this gene result in Cockayne syndrome type B. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 10q11.23

Sequence :: Chromosome: 10; NC_000010.10 (50664491..50747147, complement)

See ERCC6 in Epigenomics, MapViewer

Chromosome 10 - NC_000010.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

We suggest a possible novel association between ERCC6 rs4253079 and survival in this group of patients with low-grade and anaplastic gliomas
Title: Analysis of DNA repair gene polymorphisms and survival in low-grade and anaplastic gliomas.
BRCA1 polyubiquitinates CSB and this polyubiquitination and subsequent degradation of Cockayne syndrome B protein occur following UV irradiation.
Title: BRCA1 contributes to transcription-coupled repair of DNA damage through polyubiquitination and degradation of Cockayne syndrome B protein.
Testicular nuclear receptor 4 (TR4) regulates UV light-induced responses via Cockayne syndrome B protein-mediated transcription-coupled DNA repair
Title: Testicular nuclear receptor 4 (TR4) regulates UV light-induced responses via Cockayne syndrome B protein-mediated transcription-coupled DNA repair.
the reciprocal regulation of chromatin access by CSB and p53 could be part of a mechanism by which these two proteins coordinate their activities to regulate DNA repair, cell survival, and aging
Title: Reciprocally regulated chromatin association of Cockayne syndrome protein B and p53 protein.
Cockayne syndrome B (CSB) protein protects the fetus from xenobiotic-enhanced DNA oxidation and postnatal functional deficits
Title: Cockayne syndrome B protects against methamphetamine-enhanced oxidative DNA damage in murine fetal brain and postnatal neurodevelopmental deficits.
CSB knockdown increased the sensitivity of colorectal and prostate cancer cell lines to cisplatin-induced apoptosis, independent of p53 and MLH1
Title: Decreased transcription-coupled nucleotide excision repair capacity is associated with increased p53- and MLH1-independent apoptosis in response to cisplatin.
Data suggest that Cockayne syndrome B protein protects CAG repeats from expansion by either active reduction of the tract length during parent-child transmission, or by antagonizing the action of OGG1, which tends to promote expansion in somatic cells.
Title: Cockayne syndrome B protein antagonizes OGG1 in modulating CAG repeat length in vivo.
the disease causing Cockayne syndrome group B protein mutation impairs resolution of pH2AX foci and causes DNA fragility
Title: Defective resolution of pH2AX foci and enhanced DNA breakage in ionizing radiation-treated cockayne syndrome B cells.
Data suggest thatthe AMD-related reduced transcriptional activity of ERCC6 may be caused by diverse, small and heterogeneous genetic and/or environmental determinants.
Title: The ERCC6 gene and age-related macular degeneration.
ERCC6 founder mutation identified in Finnish patients with COFS syndrome
Title: ERCC6 founder mutation identified in Finnish patients with COFS syndrome.

Submit: New GeneRIF Correction See all (62)

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Products	Interactant	Other Gene	Source	Pubs	Description
Q03468	O96017	CHEK2	HPRD	PubMed
Q03468	P28715	ERCC5	HPRD	PubMed
Q03468	Q13216	ERCC8	HPRD	PubMed
Q03468	P29084	GTF2E2	HPRD	PubMed
Q03468	P09874	PARP1	HPRD	PubMed
Q03468	P24928	POLR2A	HPRD	PubMed
Q03468	Q9Y3C5	RNF11	HPRD	PubMed
Q03468	P04637	TP53	HPRD	PubMed
Q03468	Q9HCS7	XAB2	HPRD	PubMed
Q03468	P23025	XPA	HPRD	PubMed
BioGRID:108386	BioGRID:114497	BAZ1B	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:108386	BioGRID:108009	DDB1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108386	BioGRID:108380	ERCC2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108386	BioGRID:108384	ERCC4	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108386	BioGRID:107581	ERCC8	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108386	BioGRID:113931	HIST1H2AB	BioGRID	PubMed	Affinity Capture-Western; Far Western
BioGRID:108386	BioGRID:109271	HIST1H2BB	BioGRID	PubMed	Affinity Capture-Western; Far Western
BioGRID:108386	BioGRID:113946	HIST1H3A	BioGRID	PubMed	Affinity Capture-Western; Far Western
BioGRID:108386	BioGRID:113955	HIST1H4A	BioGRID	PubMed	Affinity Capture-Western; Far Western
BioGRID:108386	BioGRID:113934	HIST2H2AC	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108386	BioGRID:109393	HMGN1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108386	BioGRID:111142	PCNA	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108386	BioGRID:111420	POLD1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108386	BioGRID:117396	POLR1A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108386	BioGRID:111426	POLR2A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108386	BioGRID:112497	SUMO2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108386	BioGRID:113010	TP53	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:108386	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:108386	BioGRID:121273	XAB2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108386	BioGRID:113344	XPA	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex

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
hydrolase activity	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
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

Process	Evidence Code	Pubs
DNA damage response, signal transduction resulting in induction of apoptosis	IEA Inferred from Electronic Annotation more info
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
nucleotide-excision repair	TAS Traceable Author Statement more info
photoreceptor cell maintenance	IEA Inferred from Electronic Annotation more info
positive regulation of transcription elongation, DNA-dependent	IDA Inferred from Direct Assay more info	PubMed
pyrimidine dimer repair	IEA Inferred from Electronic Annotation more info
regulation of transcription elongation, DNA-dependent	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 superoxide	IEA Inferred from Electronic Annotation more info
response to toxin	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
soluble fraction	IDA Inferred from Direct Assay more info	PubMed
transcription elongation factor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: DNA excision repair protein ERCC-6

Names: DNA excision repair protein ERCC-6; Rad26 homolog; Cockayne syndrome B protein; ATP-dependent helicase ERCC6; cockayne syndrome protein CSB; Cockayne syndrome group B protein

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NCBI Reference Sequences (RefSeq)

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

NG_009442.1 RefSeqGene

Range

5001..87657

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

AC073366, AL138760

Consensus CDS

CCDS7229.1

UniProtKB/Swiss-Prot

Q03468

Related

ENSP00000348089, OTTHUMP00000019581, ENST00000355832, OTTHUMT00000047990

Conserved Domains (3) summary

cd00046
Location:527 – 677
Blast Score: 210

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:830 – 960
Blast Score: 271

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:510 – 812
Blast Score: 916

SNF2_N; SNF2 family N-terminal domain

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000010.10 Reference GRCh37.p5 Primary Assembly

Range

50664491..50747147, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000142.1 Alternate HuRef

Range

44929307..45011928, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC073366.4 (164298..164437)	None
genomic	AL138760.14	CAH70291.1
genomic	AY204752.1	AAO13487.1
genomic	CH471187.2	EAW93094.1
		EAW93097.1
mRNA	AB209504.1	BAD92741.1
mRNA	AK094670.1	None
mRNA	AK130100.1	None
mRNA	AK303022.1	BAG64148.1
mRNA	BC127104.1	AAI27105.1
mRNA	CR749388.1	CAH18238.1
mRNA	L04791.1	AAA52397.1