ERCC4
Summary: The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| ERCC excision repair 4, endonuclease catalytic subunit | MIM:133520 | Ensembl:ENSG00000175595 | HGNC:HGNC:3436 | PA27850 | 16p13.12 |
GO terms in ERCC4
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | 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 | IMP | GO:0003684 | damaged DNA binding |
| MF | IBA | GO:0003697 | single-stranded DNA binding |
| MF | IDA | GO:0003697 | single-stranded DNA binding |
| MF | IDA | GO:0004520 | endodeoxyribonuclease activity |
| MF | IDA | GO:0004520 | endodeoxyribonuclease activity |
| MF | IMP | GO:0004520 | endodeoxyribonuclease activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0008022 | protein C-terminus binding |
| MF | IDA | GO:0010521 | telomerase inhibitor activity |
| MF | IPI | GO:0042802 | identical protein binding |
| MF | IPI | GO:0047485 | protein N-terminus binding |
| MF | IMP | GO:1990599 | 3' overhang single-stranded DNA endodeoxyribonuclease activity |
| BP | IBA | GO:0000712 | resolution of meiotic recombination intermediates |
| BP | IGI | GO:0000723 | telomere maintenance |
| BP | IMP | GO:0000723 | telomere maintenance |
| BP | IBA | GO:0000724 | double-strand break repair via homologous recombination |
| BP | IMP | GO:0000724 | double-strand break repair via homologous recombination |
| BP | IGI | GO:0006281 | DNA repair |
| BP | IMP | GO:0006281 | DNA repair |
| BP | TAS | GO:0006283 | transcription-coupled nucleotide-excision repair |
| BP | IDA | GO:0006289 | nucleotide-excision repair |
| BP | IMP | 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 | IMP | GO:0009411 | response to UV |
| BP | IEA | GO:0009650 | UV protection |
| BP | IMP | GO:0032205 | negative regulation of telomere maintenance |
| BP | IDA | GO:0033683 | nucleotide-excision repair, DNA incision |
| BP | TAS | GO:0033683 | nucleotide-excision repair, DNA incision |
| BP | IGI | GO:0034644 | cellular response to UV |
| BP | TAS | GO:0036297 | interstrand cross-link repair |
| BP | IDA | GO:0051974 | negative regulation of telomerase activity |
| BP | IMP | GO:0061819 | telomeric DNA-containing double minutes formation |
| BP | TAS | GO:0070911 | global genome nucleotide-excision repair |
| BP | IBA | GO:1901255 | nucleotide-excision repair involved in interstrand cross-link repair |
| BP | IDA | GO:1904357 | negative regulation of telomere maintenance via telomere lengthening |
| BP | IMP | GO:1905765 | negative regulation of protection from non-homologous end joining at telomere |
| BP | IDA | GO:1905768 | negative regulation of double-stranded telomeric DNA binding |
| 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:0000781 | chromosome, telomeric region |
| CC | IDA | GO:0000784 | nuclear chromosome, telomeric region |
| CC | IDA | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IEA | GO:0005669 | transcription factor TFIID complex |
| CC | IDA | GO:0070522 | ERCC4-ERCC1 complex |
Gene expression in normal tissue: ERCC4
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ERCC4
| 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 |
| smpdb | SMP00478 | Nucleotide Excision Repair |
| kegg | hsa03420 | Nucleotide excision repair - Homo sapiens (human) |
| kegg | hsa03460 | Fanconi anemia pathway - Homo sapiens (human) |
| pharmgkb | PA2035 | Cyclophosphamide Pathway, Pharmacodynamics |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD61 | Kinetin riboside | 6 |
| iGMDRD211 | (1S,3R)-RSL3 | 3 |
| iGMDRD605 | AZD6482 | 1 |
| iGMDRD126 | Tipifarnib | 2 |
| iGMDRD512 | nutlin 3 | 1 |
| iGMDRD584 | VER 155008 | 3 |
| iGMDRD387 | CHIR-99021 | 2 |
| iGMDRD772 | BRD4770 | 2 |
| iGMDRD125 | BIRB-796 | 1 |
| iGMDRD160 | Cis-Platin | 2 |
| iGMDRD345 | Compound 10b [PMID: 11504634] | 3 |
| iGMDRD79 | Gemcitabine | 2 |
| iGMDRD887 | Compound 23 citrate | 1 |
| iGMDRD398 | Sepantronium | 4 |
| iGMDRD562 | Navitoclax | 3 |
| iGMDRD147 | Prima-1 | 1 |
| iGMDRD353 | PD0325901 | 1 |
| iGMDRD322 | FK 866 | 2 |
| iGMDRD513 | BML-259 | 1 |
| iGMDRD6 | AM-580 | 1 |
| iGMDRD481 | Dactolisib | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ERCC4
CLASSFICATION
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