Ercc1
Gene Detail

Symbol Name ID

Ercc1 excision repair cross-complementing rodent repair deficiency, complementation group 1 MGI:95412

Synonyms

Ercc-1

Feature Type

protein coding gene

Genetic Map

Chromosome 7

9.60 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)

Sequence Map

Chr7:19344778-19356524 bp, + strand From VEGA annotation of GRCm38   11747 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:1501  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 zebrafish

Protein SuperFamily: excision repair protein
Gene Tree: Ercc1

Human homologs

Human Homolog		ERCC1, excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)
NCBI Gene ID		2067
neXtProt AC		NX_P07992
Human Synonyms		COFS4, RAD10, UV20
Human Chr (Location)		19q13.32; chr19:45910591-45927177 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human ERCC1

Alleles and phenotypes

All alleles(14) : Targeted(6) Gene trapped(8)
 

Nullizygous mutations result in growth and liver failure, nuclear anomalies and postnatal death, and may lead to spleen hypoplasia, altered isotype switching, B cell hypoproliferation, dystonia, ataxia, renal failure, sarcopenia, kyphosis, early replicative aging and sensitivity to oxidative stress.

 
Human Diseases Modeled Using Mouse Ercc1 (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (56 annotations)

Process	cell development, cell proliferation, ...
Component	cytoplasm, nuclear chromosome, telomeric region, ...
Function	damaged DNA binding, DNA binding, ...

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

Expression

Literature Summary: (3 records)
Data Summary: Results (7)    Tissues (7)    Images (3)
Theiler Stages: 21, 25, 28

Assay Type	Results
RNA in situ	7

cDNA source data(48)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(59) Genomic(7) cDNA(49) Primer pair(1) Other(2)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000030622 (Evidence)
Ensembl Gene Model	ENSMUSG00000003549 (Evidence)
Entrez Gene	13870 (Evidence)
UniGene	280913
DFCI	TC1580404, TC1645785, TC1704131, TC1774218
DoTS	DT.101382814, DT.111013736, DT.486551
NIA Mouse Gene Index	U007761
Consensus CDS Project	CCDS20898.1, CCDS52057.1
International Mouse Knockout Project Status	Ercc1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000030622	VEGA Gene Model | MGI Sequence Detail	11747	C57BL/6J
transcript	OTTMUST00000075825	VEGA | MGI Sequence Detail	1375	Not Applicable
polypeptide	OTTMUSP00000039817	VEGA | MGI Sequence Detail	298	Not Applicable

All sequences(63) RefSeq(4) UniProt(5)

Polymorphisms

RFLP(1) : SNPs(67 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR004579	DNA repair protein rad10
InterPro	IPR003583	Helix-hairpin-helix DNA-binding motif, class 1
InterPro	IPR000445	Helix-hairpin-helix motif
InterPro	IPR011335	Restriction endonuclease type II-like
InterPro	IPR010994	RuvA domain 2-like
Protein Ontology	PR:000007163	DNA excision repair protein ERCC-1

References

(Earliest) J:44382 Thompson LH, et al., Correction of a nucleotide-excision-repair mutation by human chromosome 19 in hamster-human hybrid cells. Somat Cell Mol Genet. 1985 Jan;11(1):87-92
(Latest) J:190768 Tilstra JS, et al., NF-kappaB inhibition delays DNA damage-induced senescence and aging in mice. J Clin Invest. 2012 Jul 2;122(7):2601-12
All references(67)

Other accession IDs

MGD-MRK-9575, MGD-MRK-9578