ERCC1
Summary: 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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:126380 Ensembl IDEnsembl:ENSG00000012061 HGNC IDHGNC:HGNC:3433 PHARMGKB IDPA155 Map Location19q13.32 | |||||
GO terms in ERCC1
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0000014 | single-stranded DNA endodeoxyribonuclease activity |
| MF | IDA | GO:0000014 | single-stranded DNA endodeoxyribonuclease activity |
| MF | IEA | GO:0001094 | TFIID-class transcription factor binding |
| MF | IDA | GO:0003677 | DNA binding |
| MF | IBA | GO:0003684 | damaged DNA binding |
| MF | IDA | GO:0003684 | damaged DNA binding |
Gene expression in normal tissue: ERCC1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ERCC1
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-5685938 | HDR through Single Strand Annealing (SSA) |
| reactome | R-HSA-5693532 | DNA Double-Strand Break Repair |
| reactome | R-HSA-5693538 | Homology Directed Repair |
| reactome | R-HSA-5693567 | HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) |
| reactome | R-HSA-5696395 | Formation of Incision Complex in GG-NER |
| reactome | R-HSA-5696398 | Nucleotide Excision Repair |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ERCC1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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