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Ercc8 excision repaiross-complementing rodent repair deficiency, complementation group 8 [ Mus musculus (house mouse) ]

Gene ID: 71991, updated on 26-Sep-2022

Summary

Official Symbol
Ercc8provided by MGI
Official Full Name
excision repaiross-complementing rodent repair deficiency, complementation group 8provided by MGI
Primary source
MGI:MGI:1919241
See related
Ensembl:ENSMUSG00000021694 AllianceGenome:MGI:1919241
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
Csa; Ckn1; 2410022P04Rik; 2810431L23Rik; 4631412O06Rik; B130065P18Rik
Summary
Predicted to contribute to ubiquitin-protein transferase activity. Acts upstream of or within response to UV and response to X-ray. Predicted to be located in cytoplasm; nuclear matrix; and perikaryon. Predicted to be part of Cul4A-RING E3 ubiquitin ligase complex and nucleotide-excision repair complex. Used to study Cockayne syndrome. Human ortholog(s) of this gene implicated in Cockayne syndrome; Cockayne syndrome A; and UV-sensitive syndrome. Orthologous to human ERCC8 (ERCC excision repair 8, CSA ubiquitin ligase complex subunit). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 4.3), CNS E18 (RPKM 3.3) and 28 other tissues See more
Orthologs
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Genomic context

See Ercc8 in Genome Data Viewer
Location:
13; 13 D2.1
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (108295246..108337738)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (108158711..108201204)

Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene small integral membrane protein 15 Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 2 Neighboring gene predicted gene, 52057 Neighboring gene ELOVL family member 7, elongation of long chain fatty acids (yeast) Neighboring gene predicted gene, 32376 Neighboring gene predicted gene, 30747

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 (4) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
 
contributes_to ubiquitin-protein transferase activity ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within DNA repair IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to DNA damage stimulus ISO
Inferred from Sequence Orthology
more info
 
involved_in double-strand break repair via classical nonhomologous end joining ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of DNA repair ISO
Inferred from Sequence Orthology
more info
 
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in protein autoubiquitination ISO
Inferred from Sequence Orthology
more info
 
involved_in protein polyubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein polyubiquitination ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of transcription-coupled nucleotide-excision repair ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within response to UV IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to UV ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within response to X-ray IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to oxidative stress ISO
Inferred from Sequence Orthology
more info
 
involved_in single strand break repair ISO
Inferred from Sequence Orthology
more info
 
involved_in transcription-coupled nucleotide-excision repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within transcription-coupled nucleotide-excision repair ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
part_of Cul4-RING E3 ubiquitin ligase complex ISO
Inferred from Sequence Orthology
more info
 
part_of Cul4A-RING E3 ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of Cul4A-RING E3 ubiquitin ligase complex ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in nuclear matrix ISO
Inferred from Sequence Orthology
more info
 
part_of nucleotide-excision repair complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of nucleotide-excision repair complex ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
located_in perikaryon ISO
Inferred from Sequence Orthology
more info
 
part_of protein-containing complex ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
DNA excision repair protein ERCC-8
Names
Cockayne syndrome 1 homolog
cockayne syndrome WD repeat protein CSA homolog

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_001362403.1NP_001349332.1  DNA excision repair protein ERCC-8 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AK014517, BC056463
    UniProtKB/TrEMBL
    Q3TZV2
    Conserved Domains (2) summary
    sd00039
    Location:3270
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:4248
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  2. NM_028042.4NP_082318.2  DNA excision repair protein ERCC-8 isoform 1

    See identical proteins and their annotated locations for NP_082318.2

    Status: VALIDATED

    Source sequence(s)
    AK010576, BC056463
    Consensus CDS
    CCDS26761.1
    UniProtKB/Swiss-Prot
    Q8CFD5, Q9CWK7
    Related
    ENSMUSP00000059211.9, ENSMUST00000054835.15
    Conserved Domains (3) summary
    COG2319
    Location:40369
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:4797
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:40361
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RNA

  1. NR_155552.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AK010576, BC056463
    Related
    ENSMUST00000152634.8

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000079.7 Reference GRCm39 C57BL/6J

    Range
    108295246..108337738
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017315608.1XP_017171097.1  DNA excision repair protein ERCC-8 isoform X1

    Related
    ENSMUSP00000118154.2, ENSMUST00000142931.8
    Conserved Domains (2) summary
    sd00039
    Location:4797
    7WD40; WD40 repeat [structural motif]
    cl29593
    Location:40201
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RNA

  1. XR_003950484.2 RNA Sequence

  2. XR_382743.5 RNA Sequence

  3. XR_382744.5 RNA Sequence

  4. XR_001780818.3 RNA Sequence