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Gene: ERCC1 (ERCC excision repair 1, endonuclease non-catalytic subunit) Homo sapiens
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Symbol: ERCC1
Name: ERCC excision repair 1, endonuclease non-catalytic subunit
Description: Exhibits DNA binding activity; protein C-terminus binding activity; and protein domain specific binding activity. Contributes to 3' overhang single-stranded DNA endodeoxyribonuclease activity and DNA binding activity. Involved in DNA metabolic process; negative regulation of protection from non-homologous end joining at telomere; and response to oxidative stress. Localizes to the nucleus. Implicated in several diseases, including azoospermia; carcinoma (multiple); hematologic cancer (multiple); kidney failure; and transient cerebral ischemia. Biomarker of gastrointestinal system cancer (multiple); hematologic cancer (multiple); lung non-small cell carcinoma; ovarian cancer; and transient cerebral ischemia.
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
GRCh38 Ensembl1945,407,333 - 45,478,828 (-)Ensembl
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

Expression

RNA-SEQ Expression

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

RGD Object Information
RGD ID: 1315921
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE



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