ERCC5
Summary: This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, cognitive disability, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| ERCC excision repair 5, endonuclease | MIM:133530 | Ensembl:ENSG00000134899 | HGNC:HGNC:3437 | PA27851 | 13q33.1 |
GO terms in ERCC5
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IBA | GO:0005634 | nucleus |
| CC | IDA | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005662 | DNA replication factor A complex |
| CC | IDA | GO:0005675 | holo TFIIH complex |
| CC | IDA | GO:0016591 | DNA-directed RNA polymerase II, holoenzyme |
| BP | IMP | GO:0006283 | transcription-coupled nucleotide-excision repair |
| BP | TAS | GO:0006283 | transcription-coupled nucleotide-excision repair |
| BP | TAS | GO:0006293 | nucleotide-excision repair, preincision complex stabilization |
| BP | TAS | GO:0006294 | nucleotide-excision repair, preincision complex assembly |
| BP | IBA | GO:0006295 | nucleotide-excision repair, DNA incision, 3'-to lesion |
| BP | IDA | GO:0006295 | nucleotide-excision repair, DNA incision, 3'-to lesion |
| BP | IMP | GO:0006295 | nucleotide-excision repair, DNA incision, 3'-to lesion |
| BP | TAS | GO:0006296 | nucleotide-excision repair, DNA incision, 5'-to lesion |
| BP | IDA | GO:0009411 | response to UV |
| BP | IMP | GO:0009411 | response to UV |
| BP | IGI | GO:0009650 | UV protection |
| BP | IMP | GO:0010225 | response to UV-C |
| BP | TAS | GO:0033683 | nucleotide-excision repair, DNA incision |
| BP | IMP | GO:0043066 | negative regulation of apoptotic process |
| MF | IDA | GO:0000405 | bubble DNA binding |
| MF | IDA | GO:0003690 | double-stranded DNA binding |
| MF | IBA | GO:0003697 | single-stranded DNA binding |
| MF | IDA | GO:0003697 | single-stranded DNA binding |
| MF | IBA | GO:0004520 | endodeoxyribonuclease activity |
| MF | IDA | GO:0004520 | endodeoxyribonuclease activity |
| MF | TAS | GO:0004520 | endodeoxyribonuclease activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0042803 | protein homodimerization activity |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | IPI | GO:0047485 | protein N-terminus binding |
Gene expression in normal tissue: ERCC5
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ERCC5
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| 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-73894 | DNA Repair |
| smpdb | SMP00478 | Nucleotide Excision Repair |
| kegg | hsa03420 | Nucleotide excision repair - Homo sapiens (human) |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD137 | Indisulam | 3 |
| iGMDRD121 | GMX1778 | 2 |
| iGMDRD158 | NSC141540 | 3 |
| iGMDRD267 | Oligomycin A | 3 |
| iGMDRD434 | BMS-536924 | 2 |
| iGMDRD322 | FK 866 | 3 |
| iGMDRD512 | nutlin 3 | 2 |
| iGMDRD701 | NVP-AUY922 | 3 |
| iGMDRD424 | Tamatinib | 1 |
| iGMDRD532 | Olaparib | 2 |
| iGMDRD560 | MK-2206 | 2 |
| iGMDRD237 | ABT-751 | 3 |
| iGMDRD314 | Tanespimycin | 1 |
| iGMDRD351 | GW843682X | 3 |
| iGMDRD154 | NSC23766 | 2 |
| iGMDRD435 | BI-2536 | 3 |
| iGMDRD177 | Teniposide | 2 |
| iGMDRD901 | ELCPK | 4 |
| iGMDRD260 | FQI-2 | 3 |
| iGMDRD802 | 4-methylfasudil | 2 |
| iGMDRD52 | Rotenone | 3 |
| iGMDRD187 | BRD9876 | 4 |
| iGMDRD870 | BRD63610 | 3 |
| iGMDRD207 | Capsaicin | 1 |
| iGMDRD74 | Idarubicin | 3 |
| iGMDRD730 | Kahalalide F | 2 |
| iGMDRD100 | Zebularine | 4 |
| iGMDRD451 | Serdemetan | 3 |
| iGMDRD444 | Tivantinib | 2 |
| iGMDRD23 | Gossypol | 2 |
| iGMDRD64 | Parbendazole | 4 |
| iGMDRD387 | CHIR-99021 | 1 |
| iGMDRD151 | CHM-1 | 2 |
| iGMDRD193 | Fqi1 | 2 |
| iGMDRD61 | Kinetin riboside | 2 |
| iGMDRD639 | YK 4-279 | 2 |
| iGMDRD375 | GW-405833 | 2 |
| iGMDRD280 | CYTOCHALASIN B | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ERCC5
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