Version: 8.0.0Date: Tue Jan 28 2025
Gene
ERCC1
- Species
- Homo sapiens
- Symbol
- ERCC1
- Name
- ERCC excision repair 1, endonuclease non-catalytic subunit
- Synonyms
- COFS4
- DNA excision repair protein ERCC-1
- Biotype
- protein coding gene
- Automated Description
- Enables damaged DNA binding activity and single-stranded DNA 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. Acts upstream of or within nucleotide-excision repair. Located in chromosome, telomeric region and nucleoplasm. Part of ERCC4-ERCC1 complex and nucleotide-excision repair factor 1 complex. Implicated in several diseases, including azoospermia; carcinoma (multiple); cerebrooculofacioskeletal syndrome 4; gastrointestinal system cancer (multiple); and hematologic cancer (multiple). Biomarker of gastrointestinal system cancer (multiple); hematologic cancer (multiple); lung non-small cell carcinoma; ovarian cancer; and transient cerebral ischemia.
- RGD 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR12749
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr19:45407334...45478828 - (71.49 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.