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 |
|---|---|---|---|---|---|
| ERCC excision repair 1, endonuclease non-catalytic subunit | MIM:126380 | Ensembl:ENSG00000012061 | HGNC:HGNC:3433 | PA155 | 19q13.32 |
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 |
| MF | IBA | GO:0003697 | single-stranded DNA binding |
| MF | IDA | GO:0003697 | single-stranded DNA binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0008022 | protein C-terminus binding |
| MF | IPI | GO:0019904 | protein domain specific binding |
| MF | IMP | GO:1990599 | 3' overhang single-stranded DNA endodeoxyribonuclease activity |
| CC | IDA | GO:0000109 | nucleotide-excision repair complex |
| CC | IBA | GO:0000110 | nucleotide-excision repair factor 1 complex |
| CC | IDA | GO:0000110 | nucleotide-excision repair factor 1 complex |
| CC | IDA | GO:0000784 | nuclear chromosome, telomeric region |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IEA | GO:0005669 | transcription factor TFIID complex |
| CC | IDA | GO:0005829 | cytosol |
| CC | IBA | GO:0070522 | ERCC4-ERCC1 complex |
| CC | IDA | GO:0070522 | ERCC4-ERCC1 complex |
| BP | IBA | GO:0000710 | meiotic mismatch repair |
| BP | IEA | GO:0000720 | pyrimidine dimer repair by nucleotide-excision repair |
| BP | IEA | GO:0001302 | replicative cell aging |
| BP | IMP | GO:0006281 | DNA repair |
| BP | TAS | GO:0006283 | transcription-coupled nucleotide-excision repair |
| BP | IDA | GO:0006289 | nucleotide-excision repair |
| BP | IGI | GO:0006289 | nucleotide-excision repair |
| BP | TAS | GO:0006293 | nucleotide-excision repair, preincision complex stabilization |
| BP | IMP | GO:0006295 | nucleotide-excision repair, DNA incision, 3'-to lesion |
| BP | IBA | GO:0006296 | nucleotide-excision repair, DNA incision, 5'-to lesion |
| BP | IMP | GO:0006296 | nucleotide-excision repair, DNA incision, 5'-to lesion |
| BP | TAS | GO:0006296 | nucleotide-excision repair, DNA incision, 5'-to lesion |
| BP | IMP | GO:0006303 | double-strand break repair via nonhomologous end joining |
| BP | IGI | GO:0006310 | DNA recombination |
| BP | IBA | GO:0006312 | mitotic recombination |
| BP | IMP | GO:0006312 | mitotic recombination |
| BP | IEA | GO:0006949 | syncytium formation |
| BP | IMP | GO:0006979 | response to oxidative stress |
| BP | IEA | GO:0007283 | spermatogenesis |
| BP | IEA | GO:0007584 | response to nutrient |
| BP | IEA | GO:0008283 | cell proliferation |
| BP | IEA | GO:0008584 | male gonad development |
| BP | IEA | GO:0009650 | UV protection |
| BP | IEA | GO:0009744 | response to sucrose |
| BP | IEA | GO:0010165 | response to X-ray |
| BP | IEA | GO:0010259 | multicellular organism aging |
| BP | IMP | GO:0032205 | negative regulation of telomere maintenance |
| BP | TAS | GO:0033683 | nucleotide-excision repair, DNA incision |
| BP | IEA | GO:0035166 | post-embryonic hemopoiesis |
| BP | IEA | GO:0035264 | multicellular organism growth |
| BP | IEA | GO:0035902 | response to immobilization stress |
| BP | TAS | GO:0036297 | interstrand cross-link repair |
| BP | IEA | GO:0045190 | isotype switching |
| BP | IEA | GO:0046686 | response to cadmium ion |
| BP | IEA | GO:0048477 | oogenesis |
| BP | IEA | GO:0048568 | embryonic organ development |
| BP | IMP | GO:0061819 | telomeric DNA-containing double minutes formation |
| BP | TAS | GO:0070911 | global genome nucleotide-excision repair |
| BP | IBA | GO:0070914 | UV-damage excision repair |
| BP | ISS | GO:0090656 | t-circle formation |
| BP | ISS | GO:1904431 | positive regulation of t-circle formation |
| BP | IMP | GO:1905765 | negative regulation of protection from non-homologous end joining at telomere |
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 |
| reactome | R-HSA-5696399 | Global Genome Nucleotide Excision Repair (GG-NER) |
| reactome | R-HSA-5696400 | Dual Incision in GG-NER |
| reactome | R-HSA-6781827 | Transcription-Coupled Nucleotide Excision Repair (TC-NER) |
| reactome | R-HSA-6782135 | Dual incision in TC-NER |
| reactome | R-HSA-6783310 | Fanconi Anemia Pathway |
| reactome | R-HSA-73894 | DNA Repair |
| pharmgkb | PA2035 | Cyclophosphamide Pathway, Pharmacodynamics |
| kegg | hsa03420 | Nucleotide excision repair - Homo sapiens (human) |
| kegg | hsa03460 | Fanconi anemia pathway - Homo sapiens (human) |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD199 | RG108 | 1 |
| iGMDRD971 | PARP inhibitor | 3 |
| iGMDRD489 | GSK-461364 | 1 |
| iGMDRD354 | Midostaurin | 1 |
| iGMDRD63 | Camptothecin | 1 |
| iGMDRD239 | Dasatinib | 1 |
| iGMDRD639 | YK 4-279 | 1 |
| iGMDRD608 | Refametinib | 1 |
| iGMDRD358 | Semagacestat | 2 |
| iGMDRD697 | Methylstat | 1 |
| iGMDRD394 | BX-795 | 1 |
| iGMDRD378 | ZM-447439 | 1 |
| iGMDRD401 | Afatinib | 1 |
| iGMDRD440 | Nutlin-3A | 1 |
| iGMDRD117 | Docetaxel | 1 |
| iGMDRD602 | Foretinib | 1 |
| iGMDRD431 | NU-7441 | 1 |
| iGMDRD512 | nutlin 3 | 1 |
| iGMDRD324 | CI-1040 | 2 |
| iGMDRD798 | Ceranib-2 | 1 |
| iGMDRD50 | Cytarabine | 2 |
| iGMDRD160 | Cis-Platin | 9 |
| iGMDRD352 | PD-0325901 | 1 |
| iGMDRD750 | TRIAZOLOTHIADIAZINE | 1 |
| iGMDRD435 | BI-2536 | 1 |
| iGMDRD156 | HLI-373 | 1 |
| iGMDRD479 | Veliparib | 1 |
| iGMDRD551 | Ponatinib | 1 |
| iGMDRD421 | AZD7762 | 1 |
| iGMDRD384 | EHT-1864 | 1 |
| iGMDRD946 | ML320 | 1 |
| iGMDRD552 | AZD-1775 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ERCC1
CLASSFICATION
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.