UVSSA Gene: UV-Stimulated Scaffold Protein A
Key regulator of transcription-coupled nucleotide excision repair (TC-NER) and UV sensitivity
Gene Information Card
| Symbol | UVSSA |
|---|---|
| Full Name | UV-stimulated scaffold protein A |
| Gene Type | Protein-coding |
| Chromosomal Location | 4p16.3 |
| NCBI Gene ID | 57654 ncbi.nlm.nih.gov/gene/57654 |
| Ensembl ID | ENSG00000138674 |
| UniProt ID | Q2YD98 |
| OMIM ID | 614632 |
| HGNC ID | 25547 |
| Aliases | KIAA1530, UVSSA, UVSS1 |
Description
The UVSSA gene encodes a protein that functions as a scaffold in transcription-coupled nucleotide excision repair (TC-NER). It stabilizes the TC-NER complex by interacting with RNA polymerase II and the ubiquitin-specific protease USP7, facilitating the removal of UV-induced DNA lesions. Mutations in UVSSA cause UV-sensitive syndrome, characterized by photosensitivity and increased risk of skin cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| UV-Sensitive Syndrome (UVSS) | Loss-of-function mutations in UVSSA impair TC-NER, leading to defective repair of UV-induced DNA damage and cellular hypersensitivity to UV light. | OMIM #614632; ClinVar |
| Xeroderma Pigmentosum Variant (XP-V) | Although primarily associated with POLH, UVSSA defects can phenocopy XP-like UV sensitivity due to shared TC-NER pathway disruption. | NCBI Gene; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.7 | Low |
| Brain | 4.2 | Low |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | Embryonic kidney cells |
| HeLa | 10.2 | Cervical cancer cells |
| A549 | 8.5 | Lung carcinoma cells |
| HaCaT | 12.0 | Keratinocyte cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109*) | Nonsense | Rare | Premature stop codon; loss of function |
| c.1A>G (p.Met1?) | Missense | Rare | Start codon loss; no protein produced |
| c.1027C>T (p.Arg343Trp) | Missense | Rare | Impaired USP7 binding; reduced TC-NER |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent UVSSA protein, disrupting TC-NER and causing UV sensitivity.
Gain of Function (GOF)
Not reported for UVSSA.
Dominant Negative (DN)
Not reported; UVSSA mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • nucleotide-excision repair (GO:0006289) | • nucleotide-excision repair (GO:0006297) |
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • DNA repair (GO:0006281) |
Pathways
• Transcription-coupled nucleotide excision repair (TC-NER) (Reactome: R-HSA-5696398)
• Global genome nucleotide excision repair (GG-NER) (Reactome: R-HSA-5696399)
Protein Summary
UVSSA is a 709-amino acid protein that acts as a scaffold in TC-NER. It binds to RNA polymerase II stalled at UV lesions and recruits USP7 to deubiquitinate and stabilize the repair complex. The protein is predominantly nuclear and is essential for cellular survival after UV exposure.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UVSSA Knockout HEK293 Cell Line | EDJ-KQ16087 | Human | 57654 | Details Get a Quote |
| UVSSA Knockout A-549 Cell Line | EDJ-KQ47229 | Human | 57654 | Details Get a Quote |
| UVSSA Knockout HCT 116 Cell Line | EDJ-KQ47230 | Human | 57654 | Details Get a Quote |
| UVSSA Knockout HeLa Cell Line | EDJ-KQ47231 | Human | 57654 | Details Get a Quote |
