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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 western clawed frog; 1 zebrafish

HCOP human homology predictions: ERCC1
Protein SuperFamily: excision repair protein
Gene Tree: Ercc1

Human
homologs
ERCC1, excision repair cross-complementation group 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 2067
neXtProt AC: NX_P07992

Human Synonyms: COFS4, RAD10, UV20

Human Chr (Location): 19q13.32; chr19:45407333-45478820 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human ERCC1

Mutations,
alleles, and
phenotypes
All mutations/alleles(15) : Gene trapped(8) Targeted(7)
 
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 in Mice Using Ercc1 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Ercc1 interacts with 48 markers (Mir18b, Mir128-1, Mir128-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (59 annotations)
Process cell development, cell proliferation, ...
Component cytoplasm, ERCC4-ERCC1 complex, ...
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)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 7
cDNA source data(48)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase ercc1    NEW 
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 Phenotyping Consortium Status Ercc1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000030622 VEGA Gene Model | MGI Sequence Detail 11747 C57BL/6J ±  kb
transcript OTTMUST00000075825 VEGA | MGI Sequence Detail 1375 Not Applicable 
polypeptide OTTMUSP00000039817 VEGA | MGI Sequence Detail 298 Not Applicable 

For the selected sequences
All sequences(65) RefSeq(6) UniProt(5)
Polymorphisms
RFLP(1) : SNPs within 2kb(150 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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:213229 Raj DD, et al., Priming of microglia in a DNA-repair deficient model of accelerated aging. Neurobiol Aging. 2014 Sep;35(9):2147-60
All references(76)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-9575, MGD-MRK-9578

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory