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

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: human all
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Genomic context

Location:: 13 D2.1; 13 59.69 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	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_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Neurovascular dysfunction and neuroinflammation in a Cockayne syndrome mouse model.
Title: Neurovascular dysfunction and neuroinflammation in a Cockayne syndrome mouse model.
This study demonistrated that Cockayne syndrome group A 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.
MtDNA mutations are highly increased in cells from subcutaneous fat of aged Csa(-/-) mice
Title: Proteins of nucleotide and base excision repair pathways interact in mitochondria to protect from loss of subcutaneous fat, a hallmark of aging.
difference in oxidative DNA damage sensitivity between CSA- and CSB-deficient cell lines and mice
Title: Different effects of CSA and CSB deficiency on sensitivity to oxidative DNA damage.

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Variation

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Alleles

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

Endonuclease-mediated (5)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

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
involved_in DNA damage response	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within DNA repair	IEA Inferred from Electronic Annotation 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
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
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
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
part_of Cul4A-RING E3 ubiquitin ligase complex	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
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

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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)

NM_001362403.1 → NP_001349332.1 DNA excision repair protein ERCC-8 isoform 2

Status: VALIDATED

Source sequence(s)

AK014517, BC056463

UniProtKB/TrEMBL

Q3TZV2, Q8C1K2

Conserved Domains (2) summary

sd00039
Location:32 → 70

7WD40; WD40 repeat [structural motif]

cl25539
Location:4 → 248

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 ...
NM_028042.4 → NP_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

Q3U066, Q8CFD5, Q8VDC4, Q9CWK7

UniProtKB/TrEMBL

Q3U152

Related

ENSMUSP00000059211.9, ENSMUST00000054835.15

Conserved Domains (3) summary

COG2319
Location:40 → 369

WD40; WD40 repeat [General function prediction only]

sd00039
Location:47 → 97

7WD40; WD40 repeat [structural motif]

cl02567
Location:40 → 361

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

NR_155552.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AK010576, BC056463

Related

ENSMUST00000152634.8

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_000079.7 Reference GRCm39 C57BL/6J

Range

108295246..108337738

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

D3YU16

Related

ENSMUSP00000118154.2, ENSMUST00000142931.8

Conserved Domains (2) summary

sd00039
Location:47 → 97

7WD40; WD40 repeat [structural motif]

cl29593
Location:40 → 201

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 ...