Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: ERCC1 (ERCC excision repair 1, endonuclease non-catalytic subunit) Homo sapiens
Analyze
Symbol: ERCC1
Name: ERCC excision repair 1, endonuclease non-catalytic subunit
Description: The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: COFS4; DNA excision repair protein ERCC-1; excision repair cross-complementation group 1; excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence); RAD10; UV20
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381945,407,334 - 45,451,547 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371945,910,591 - 45,982,241 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361950,604,712 - 50,619,017 (-)NCBINCBI36hg18NCBI36
Build 341950,608,532 - 50,618,642NCBI
Celera1942,716,697 - 42,733,283 (-)NCBI
Cytogenetic Map19q13.32NCBI
HuRef1942,340,919 - 42,357,653 (-)NCBIHuRef
CHM1_11945,913,883 - 45,930,469 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on ERCC1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1315921
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-10-08
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.