Ercc6 excision repair cross-complementing rodent repair deficiency, complementation group 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ercc6provided by MGI
Official Full Name: excision repair cross-complementing rodent repair deficiency, complementation group 6provided by MGI
Primary source: MGI:MGI:1100494
See related: Ensembl:ENSMUSG00000054051 AllianceGenome:MGI:1100494
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: CSB; 4732403I04; C130058G22Rik
Summary: Predicted to enable several functions, including ATP binding activity; protein C-terminus binding activity; and protein tyrosine kinase activator activity. Acts upstream of or within several processes, including intracellular signal transduction; nucleic acid metabolic process; and photoreceptor cell maintenance. Predicted to be located in nuclear body; nucleolus; and site of DNA damage. Predicted to be part of transcription elongation factor complex. Predicted to be active in nucleus. Is expressed in genitourinary system. Used to study Cockayne syndrome. Human ortholog(s) of this gene implicated in several diseases, including Cockayne syndrome (multiple); De Sanctis-Cacchione syndrome; UV-sensitive syndrome; age related macular degeneration 5; and primary ovarian insufficiency 11. Orthologous to human ERCC6 (ERCC excision repair 6, chromatin remodeling factor). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 3.9), CNS E14 (RPKM 3.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 B; 14 19.4 cM

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (32235248..32302947)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (32513291..32580990)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Our data show that in addition to promoting repeat expansion, CSB does in fact protect the genome from germ line expansions in the FXD mouse model.
Title: The transcription-coupled repair protein ERCC6/CSB also protects against repeat expansion in a mouse model of the fragile X premutation.
This study demonistrated that Cockayne syndrome group b deficiencies predispose to hearing loss and cochlear hair cell degeneration in mice.
Title: Cockayne syndrome group B (Csb) and group a (Csa) deficiencies predispose to hearing loss and cochlear hair cell degeneration in mice.
loss of CSB affects tandem-repeat expansions in a gender and cell-type-specific manner
Title: Gender and cell-type-specific effects of the transcription-coupled repair protein, ERCC6/CSB, on repeat expansion in a mouse model of the fragile X-related disorders.
CSB has been shown to regulate processes such as the transcriptional recovery after DNA damage, the p53 transcriptional response, the response to hypoxia, the response IGF-1, transactivation of nuclear receptors, transcription of housekeeping genes
Title: Cockayne syndrome group B (CSB) protein: at the crossroads of transcriptional networks.
CSB and PCAF play cooperative roles to establish the active state of rRNA genes by histone acetylation
Title: The chromatin remodeling factor CSB recruits histone acetyltransferase PCAF to rRNA gene promoters in active state for transcription initiation.
Csb-/- neural precursors exhibited defective self-renewal in the neurosphere assay.
Title: Cockayne syndrome b maintains neural precursor function.
Dysmyelination not demyelination causes neurological symptoms in preweaned mice in a cs-b xp-c murine model of Cockayne syndrome
Title: Dysmyelination not demyelination causes neurological symptoms in preweaned mice in a murine model of Cockayne syndrome.
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.
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.
These results suggested that reduced repair of a DNA topoisomerase I-DNA covalent complex because of truncated CSB proteins is involved in the pathogenesis of CS-B.
Title: Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
enables ATP-dependent chromatin remodeler activity	ISO Inferred from Sequence Orthology more info
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase binding	ISO Inferred from Sequence Orthology more info
enables chromatin binding	ISO Inferred from Sequence Orthology more info
enables helicase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein tyrosine kinase activator activity	ISO Inferred from Sequence Orthology more info
enables sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in DNA damage checkpoint signaling	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA protection	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within DNA repair	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within DNA repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA repair	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within JNK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in base-excision repair	ISO Inferred from Sequence Orthology more info
involved_in chromatin remodeling	NAS Non-traceable Author Statement more info	PubMed
involved_in double-strand break repair via classical nonhomologous end joining	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of double-strand break repair via nonhomologous end joining	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within nervous system development	IEA Inferred from Electronic Annotation more info
involved_in neurogenesis	ISO Inferred from Sequence Orthology more info
involved_in neuron differentiation	ISO Inferred from Sequence Orthology more info
involved_in neuron projection development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within photoreceptor cell maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA repair	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription, elongation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of defense response to virus by host	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of double-strand break repair via homologous recombination	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of peptidyl-serine phosphorylation of STAT protein	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of transcription initiation by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of transcription initiation by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pyrimidine dimer repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription elongation	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription elongation by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to UV	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to UV-B	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to X-ray	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to gamma radiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to oxidative stress	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to oxidative stress	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to superoxide	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to toxic substance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in single strand break repair	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within transcription elongation by RNA polymerase I	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transcription-coupled nucleotide-excision repair	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within transcription-coupled nucleotide-excision repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transcription-coupled nucleotide-excision repair	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of B-WICH complex	ISO Inferred from Sequence Orthology more info
located_in nuclear body	ISO Inferred from Sequence Orthology more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleolus	NAS Non-traceable Author Statement more info	PubMed
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in site of DNA damage	ISO Inferred from Sequence Orthology more info
part_of transcription elongation factor complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: DNA excision repair protein ERCC-6

Names: ATP-dependent helicase ERCC6; CS group B correcting; cockayne syndrome protein CSB

NP_001074690.1

EC 3.6.4.-

XP_006519183.1

EC 3.6.4.-

XP_006519186.1

EC 3.6.4.-

XP_006519188.1

EC 3.6.4.-

XP_006519189.1

EC 3.6.4.-

XP_030103719.1

EC 3.6.4.-

XP_030103720.1

EC 3.6.4.-

XP_036014560.1

EC 3.6.4.-

XP_036014561.1

EC 3.6.4.-

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.

mRNA and Protein(s)

NM_001081221.2 → NP_001074690.1 DNA excision repair protein ERCC-6

See identical proteins and their annotated locations for NP_001074690.1

Status: VALIDATED

Source sequence(s)

AC154412

Consensus CDS

CCDS36868.1

UniProtKB/Swiss-Prot

A3KMN2, F8VPZ5

Related

ENSMUSP00000066256.7, ENSMUST00000066807.8

Conserved Domains (2) summary

PHA02562
Location:122 → 199

46; endonuclease subunit; Provisional

COG0553
Location:414 → 1003

HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000080.7 Reference GRCm39 C57BL/6J

Range

32235248..32302947

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006519120.3 → XP_006519183.1 DNA excision repair protein ERCC-6 isoform X1

See identical proteins and their annotated locations for XP_006519183.1

UniProtKB/Swiss-Prot

A3KMN2, F8VPZ5

Conserved Domains (2) summary

PHA02562
Location:122 → 199

46; endonuclease subunit; Provisional

COG0553
Location:414 → 1003

HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
XM_036158668.1 → XP_036014561.1 DNA excision repair protein ERCC-6 isoform X3

Conserved Domains (1) summary

COG0553
Location:150 → 739

HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
XM_036158667.1 → XP_036014560.1 DNA excision repair protein ERCC-6 isoform X2

Conserved Domains (1) summary

COG0553
Location:187 → 776

HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
XM_030247860.1 → XP_030103720.1 DNA excision repair protein ERCC-6 isoform X3

Conserved Domains (1) summary

COG0553
Location:150 → 739

HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
XM_030247859.1 → XP_030103719.1 DNA excision repair protein ERCC-6 isoform X2

Conserved Domains (1) summary

COG0553
Location:187 → 776

HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
XM_006519123.4 → XP_006519186.1 DNA excision repair protein ERCC-6 isoform X2

See identical proteins and their annotated locations for XP_006519186.1

Conserved Domains (1) summary

COG0553
Location:187 → 776

HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
XM_006519126.4 → XP_006519189.1 DNA excision repair protein ERCC-6 isoform X5

Conserved Domains (1) summary

COG0553
Location:3 → 446

HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
XM_006519125.4 → XP_006519188.1 DNA excision repair protein ERCC-6 isoform X4

Conserved Domains (1) summary

COG0553
Location:1 → 474

HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]