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

Gene ID: 319955, updated on 10-Feb-2024

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
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Genomic context

See Ercc6 in Genome Data Viewer
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_000080.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 1700024G13 gene Neighboring gene STARR-seq mESC enhancer starr_36344 Neighboring gene choline acetyltransferase Neighboring gene solute carrier family 18 (vesicular monoamine), member 3 Neighboring gene dorsal root ganglia homeobox Neighboring gene RIKEN cDNA 3425401B19 gene Neighboring gene predicted gene 28651

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (1)  1 citation
  • Endonuclease-mediated (1) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

Preferred Names
DNA excision repair protein ERCC-6
Names
ATP-dependent helicase ERCC6
CS group B correcting
cockayne syndrome protein CSB
NP_001074690.1
XP_006519183.1
XP_006519186.1
XP_006519188.1
XP_006519189.1
XP_030103719.1
XP_030103720.1
XP_036014560.1
XP_036014561.1

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.

mRNA and Protein(s)

  1. NM_001081221.2NP_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:122199
    46; endonuclease subunit; Provisional
    COG0553
    Location:4141003
    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

  1. NC_000080.7 Reference GRCm39 C57BL/6J

    Range
    32235248..32302947
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006519120.3XP_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:122199
    46; endonuclease subunit; Provisional
    COG0553
    Location:4141003
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
  2. XM_036158668.1XP_036014561.1  DNA excision repair protein ERCC-6 isoform X3

    Conserved Domains (1) summary
    COG0553
    Location:150739
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
  3. XM_036158667.1XP_036014560.1  DNA excision repair protein ERCC-6 isoform X2

    Conserved Domains (1) summary
    COG0553
    Location:187776
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
  4. XM_030247860.1XP_030103720.1  DNA excision repair protein ERCC-6 isoform X3

    Conserved Domains (1) summary
    COG0553
    Location:150739
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
  5. XM_030247859.1XP_030103719.1  DNA excision repair protein ERCC-6 isoform X2

    Conserved Domains (1) summary
    COG0553
    Location:187776
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
  6. XM_006519123.4XP_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:187776
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
  7. XM_006519126.4XP_006519189.1  DNA excision repair protein ERCC-6 isoform X5

    Conserved Domains (1) summary
    COG0553
    Location:3446
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
  8. XM_006519125.4XP_006519188.1  DNA excision repair protein ERCC-6 isoform X4

    Conserved Domains (1) summary
    COG0553
    Location:1474
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]

RNA

  1. XR_003950863.1 RNA Sequence

  2. XR_383187.4 RNA Sequence

  3. XR_003950864.1 RNA Sequence