ERCC3 (ERCC excision repair 3, TFIIH core complex helicase subunit)
ERCC3, also known as Excision Repair Cross-Complementation Group 3, encodes the Xeroderma Pigmentosum Group B (XPB) protein, a critical ATP-dependent DNA helicase that functions as an essential subunit of the general transcription factor IIH (TFIIH) complex. As a member of the SF2 helicase superfamily, XPB utilizes the energy derived from ATP hydrolysis to unwind the DNA double helix at the transcription start site, a dual function that is indispensable for both the initiation of RNA polymerase II-mediated transcription and the nucleotide excision repair (NER) pathway. In the context of NER, XPB facilitates the opening of the DNA duplex to allow the recognition and removal of bulky DNA lesions, such as those induced by ultraviolet radiation, thereby preventing the accumulation of mutagenic damage. Mutations in ERCC3 are associated with a spectrum of severe autosomal recessive disorders, including Xeroderma Pigmentosum (XP), Cockayne Syndrome (CS), and Trichothiodystrophy (TTD), which are clinically characterized by extreme sensitivity to UV light, progressive neurological degeneration, and premature aging phenotypes resulting from the cellular inability to repair DNA damage. Beyond its role in maintenance repair, ERCC3 expression levels are tightly regulated and have significant implications for oncogenesis; while downregulation compromises genomic stability and increases mutation rates, aberrant expression or mutations can alter cell cycle checkpoints and modulate cellular sensitivity to chemotherapeutic agents that exploit NER mechanisms. The protein acts in concert with other ERCC family members, particularly ERCC2 (XPD), to coordinate the repair process, making ERCC3 a pivotal target for understanding the molecular basis of genome stability, transcriptional regulation, and the development of therapeutic strategies for DNA repair-deficient diseases and cancer.
Gene Ontology
Subcellular localization of ERCC3 (and its protein):
- plasma membrane
- cytoplasm
- extracellular
- golgi
- vesicle
- cytoskeleton
- endoplasmic reticulum
- nucleus
- endosome
- lysosome
- mitochondrion
Gene Ontology (GO) terms for ERCC3:
| Interacting Gene | Interaction | Source/Score |
| Name |
|---|
| 3022 Basal transcription factors [PATH:hsa03022] |
| 3420 Nucleotide excision repair [PATH:hsa03420] |
| Name |
|---|
| Disease |
| DNA Repair |
| Dual incision reaction in GG-NER |
| Dual incision reaction in TC-NER |
| Epigenetic regulation of gene expression |
| Formation of HIV elongation complex in the absence of HIV Tat |
| Formation of HIV-1 elongation complex containing HIV-1 Tat |
| Formation of incision complex in GG-NER |
| Formation of RNA Pol II elongation complex |
| Formation of the Early Elongation Complex |
| Formation of the HIV-1 Early Elongation Complex |
| Formation of transcription-coupled NER (TC-NER) repair complex |
| Gene Expression |
| Global Genomic NER (GG-NER) |
| HIV Infection |
| HIV Life Cycle |
| HIV Transcription Elongation |
| HIV Transcription Initiation |
| Infectious disease |
| Late Phase of HIV Life Cycle |
| mRNA Capping |
| Negative epigenetic regulation of rRNA expression |
| NoRC negatively regulates rRNA expression |
| Nucleotide Excision Repair |
| RNA Pol II CTD phosphorylation and interaction with CE |
| RNA Polymerase I Chain Elongation |
| RNA Polymerase I Promoter Clearance |
| RNA Polymerase I Promoter Escape |
| RNA Polymerase I Transcription |
| RNA Polymerase I Transcription Initiation |
| RNA Polymerase I Transcription Termination |
| RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription |
| RNA Polymerase II HIV Promoter Escape |
| RNA Polymerase II Pre-transcription Events |
| RNA Polymerase II Promoter Escape |
| RNA Polymerase II Transcription |
| RNA Polymerase II Transcription Elongation |
| RNA Polymerase II Transcription Initiation |
| RNA Polymerase II Transcription Initiation And Promoter Clearance |
| RNA Polymerase II Transcription Pre-Initiation And Promoter Opening |
| Tat-mediated elongation of the HIV-1 transcript |
| Transcription |
| Transcription of the HIV genome |
| Transcription-coupled NER (TC-NER) |
| Disease | Score | NofPmids | NofSnps | Source |
| Xeroderma pigmentosum, group B | 0.441085767 | 5 | 0 | BeFree_CTD_human_MGD_ORPHANET_UNIPROT |
| Trichothiodystrophy Syndromes | 0.126786047 | 25 | 0 | BeFree_ORPHANET |
| Peripheral Neuropathy | 0.12 | 1 | 0 | CTD_human |
| Photosensitive Trichothiodystrophy | 0.12 | 0 | 0 | CTD_human |
| Arsenic Poisoning | 0.12 | 1 | 0 | CTD_human |
| Xeroderma Pigmentosum B/Cockayne Syndrome | 0.12 | 0 | 3 | CLINVAR |
| Asphyxia Neonatorum | 0.08 | 1 | 0 | RGD |
| Xeroderma Pigmentosum | 0.013767591 | 42 | 0 | BeFree_GAD |
| Malignant neoplasm of breast | 0.007372538 | 4 | 0 | BeFree_GAD |
| Malignant neoplasm of lung | 0.005005506 | 2 | 0 | BeFree_GAD |
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