ERCC8: Excision Repair Cross-Complementation Group 8
Key player in nucleotide excision repair and Cockayne syndrome
Gene Information Card
| Symbol | ERCC8 |
|---|---|
| Full Name | ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
| Gene Type | Protein coding |
| Chromosomal Location | 5q12.1 |
| NCBI Gene ID | 1161 ncbi.nlm.nih.gov/gene/1161 |
| Ensembl ID | ENSG00000149131 |
| UniProt ID | Q13216 |
| OMIM ID | 609412 |
| HGNC ID | 3439 |
| Aliases | CSA, CKN1, UVSS2 |
Description
The ERCC8 gene encodes the CSA protein, a component of the transcription-coupled nucleotide excision repair (TC-NER) pathway. CSA is part of a ubiquitin ligase complex that facilitates the repair of UV-induced DNA damage and other helix-distorting lesions. Mutations in ERCC8 cause Cockayne syndrome type A (CSA), a disorder characterized by photosensitivity, growth failure, and neurological abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cockayne syndrome type A | Loss of function of CSA disrupts TC-NER, leading to accumulation of DNA damage and cellular dysfunction | OMIM #216400 |
| UV-sensitive syndrome 2 | Defective TC-NER due to ERCC8 mutations results in photosensitivity without neurological features | OMIM #614621 |
| Xeroderma pigmentosum complementation group G (overlap) | Rare cases with combined features due to ERCC8 mutations affecting NER | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Adrenal gland | 6.5 | Medium |
| Thyroid | 5.9 | Medium |
| Liver | 5.1 | Medium |
| Brain | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 7.3 | Cervical carcinoma cell line |
| HEK 293 | 6.8 | Embryonic kidney cells |
| A549 | 5.9 | Lung carcinoma cells |
| K562 | 4.2 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.394C>T (p.Arg132*) | Nonsense | Rare | Premature stop codon, loss of function |
| c.1080delA (p.Glu361Argfs*5) | Frameshift | Rare | Frameshift leading to truncated protein |
| c.173G>A (p.Trp58*) | Nonsense | Rare | Loss of function, associated with Cockayne syndrome |
| c.1A>G (p.Met1?) | Missense | Rare | Initiation codon mutation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most ERCC8 mutations are loss-of-function, leading to truncated or unstable CSA protein, impairing TC-NER.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; ERCC8 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Nucleotide excision repair (KEGG: hsa03420)
• Transcription-coupled nucleotide excision repair (Reactome: R-HSA-6781823)
• Ubiquitin-mediated proteolysis (KEGG: hsa04120)
Protein Summary
The CSA protein (UniProt Q13216) is a 396-amino acid WD40-repeat protein that forms part of the CSA-DDB1-CUL4-RBX1 E3 ubiquitin ligase complex. It recognizes stalled RNA polymerase II at DNA lesions and ubiquitinates target proteins to facilitate repair. CSA is essential for transcription-coupled nucleotide excision repair and also plays roles in chromatin remodeling and cellular stress responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ERCC8 Knockout HEK293 Cell Line | EDJ-KQ4282 | Human | 1161 | Details Get a Quote |
| ERCC8 Knockout A-549 Cell Line | EDJ-KQ26765 | Human | 1161 | Details Get a Quote |
| ERCC8 Knockout HCT 116 Cell Line | EDJ-KQ26766 | Human | 1161 | Details Get a Quote |
| ERCC8 Knockout HeLa Cell Line | EDJ-KQ26767 | Human | 1161 | Details Get a Quote |
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