Ercc8
Gene Detail

Symbol Name ID

Ercc8 excision repaiross-complementing rodent repair deficiency, complementation group 8 MGI:1919241

Synonyms

2410022P04Rik, 2810431L23Rik, 4631412O06Rik, B130065P18Rik, Ckn1, Csa

Feature Type

protein coding gene

Genetic Map

Chromosome 13

59.69 cM, cytoband D
Detailed Genetic Map ± 1 cM


Mapping data(3)

Sequence Map

Chr13:108158731-108195364 bp, + strand From VEGA annotation of GRCm38   36634 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:62  Vertebrate Homology Class
1 human; 1 mouse; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Ercc8

Human homologs

Human Homolog		ERCC8, excision repair cross-complementing rodent repair deficiency, complementation group 8
NCBI Gene ID		1161
neXtProt AC		NX_Q13216
Human Synonyms		CKN1, CSA, UVSS2
Human Chr (Location)		5q12.1; chr5:60169659-60240905 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human ERCC8

Alleles and phenotypes

All alleles(9) : Targeted(2) Gene trapped(7)
 

Homozygous mutation of this gene results in skin photosensitivity, increased incidence of skin tumors after UV exposure, and progressive photoreceptor degeneration.

 
Phenotype Images(1)

Gene Ontology (GO) classifications

All GO classifications: (19 annotations)

Process	DNA repair, nucleotide-excision repair, ...
Component	Cul4A-RING ubiquitin ligase complex, nuclear matrix, ...
Function	protein complex binding, ubiquitin-protein ligase activity

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (1 records)
Data Summary: Results (94)    Tissues (94)   
Theiler Stages: 22

Assay Type	Results
RNA in situ	94

cDNA source data(45)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(46) Genomic(1) cDNA(45)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000030543 (Evidence)
Ensembl Gene Model	ENSMUSG00000021694 (Evidence)
Entrez Gene	71991 (Evidence)
UniGene	212208
DFCI	TC1579821, TC1585637, TC1597480, TC1606738, TC1642406, TC1678686, TC1698041
DoTS	DT.101308991, DT.486385, DT.91376246, DT.94199507, DT.94199514, DT.99851633
NIA Mouse Gene Index	U043369, U361689
Consensus CDS Project	CCDS26761.1
International Mouse Knockout Project Status	Ercc8

Sequences

Length	Strain/Species
genomic	OTTMUSG00000030543	VEGA Gene Model | MGI Sequence Detail	36634	C57BL/6J
transcript	OTTMUST00000075602	VEGA | MGI Sequence Detail	2111	Not Applicable
polypeptide	OTTMUSP00000039667	VEGA | MGI Sequence Detail	397	Not Applicable

All sequences(84) RefSeq(2) UniProt(9)

Polymorphisms

SNPs(214 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR020472	G-protein beta WD-40 repeat
InterPro	IPR001680	WD40 repeat
InterPro	IPR019775	WD40 repeat, conserved site
InterPro	IPR017986	WD40-repeat-containing domain
InterPro	IPR015943	WD40/YVTN repeat-like-containing domain
Protein Ontology	PR:000007170	DNA excision repair protein ERCC-8

References

(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:179808 Jaarsma D, et al., Age-related neuronal degeneration: complementary roles of nucleotide excision repair and transcription-coupled repair in preventing neuropathology. PLoS Genet. 2011 Dec;7(12):e1002405
All references(43)

Other accession IDs

MGI:1917208, MGI:1924296, MGI:2443311