RAD23A: A Key Component in Nucleotide Excision Repair and Proteasomal Degradation
Comprehensive genomic and functional analysis of RAD23A, a DNA repair and ubiquitin-binding protein.
Gene Information Card
| Symbol | RAD23A |
|---|---|
| Full Name | RAD23 homolog A, nucleotide excision repair protein |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.13 |
| NCBI Gene ID | 5886 ncbi.nlm.nih.gov/gene/5886 |
| Ensembl ID | ENSG00000104884 |
| UniProt ID | P54725 |
| OMIM ID | 600061 |
| HGNC ID | 9812 |
| Aliases | HR23A, HHR23A, MGC117188 |
Description
RAD23A encodes a protein that is part of the nucleotide excision repair (NER) complex. It binds to ubiquitin and delivers ubiquitinated proteins to the proteasome, linking DNA repair with protein degradation. RAD23A interacts with XPC to recognize DNA damage and with the proteasome to facilitate turnover of regulatory proteins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Xeroderma Pigmentosum (variant form) | Defective NER due to impaired XPC-RAD23A interaction; reduced damage recognition | ClinVar; OMIM #600061 |
| Cutaneous melanoma | Somatic mutations in RAD23A may alter NER efficiency, increasing UV-induced mutagenesis | COSMIC; PMID: 21720365 |
| Breast cancer | Altered RAD23A expression linked to genomic instability and poor prognosis | NCBI Gene; PMID: 25691885 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 18.5 | High |
| Skin | 12.3 | Medium |
| Lung | 9.8 | Medium |
| Liver | 7.2 | Low |
| Brain | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical cancer cell line |
| A549 | 11.5 | Lung carcinoma |
| MCF7 | 9.0 | Breast cancer |
| HEK293 | 8.3 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.764C>T (p.Ala255Val) | Missense | <0.01% | Reduced XPC binding; NER deficiency |
| c.1129G>A (p.Gly377Ser) | Missense | <0.01% | Altered ubiquitin-binding; proteasome targeting defect |
| c.1300_1301insA (p.Thr434Asnfs*2) | Frameshift | <0.01% | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein, impairing both NER and proteasomal delivery.
Gain of Function (GOF)
Not reported; no activating mutations documented in COSMIC or ClinVar.
Dominant Negative (DN)
Missense mutations in the ubiquitin-binding domain may interfere with wild-type RAD23A function in heterodimers.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Nucleotide Excision Repair (Reactome R-HSA-5696398)
• Ubiquitin-Proteasome Degradation (Reactome R-HSA-983168)
• p53-Independent DNA Damage Response (KEGG hsa03420)
Protein Summary
RAD23A (HR23A) is a 43 kDa protein containing an N-terminal ubiquitin-like (UBL) domain and two C-terminal ubiquitin-associated (UBA) domains. It shuttles ubiquitinated substrates to the proteasome and stabilizes the XPC complex for DNA damage recognition. The protein is predominantly nuclear and expressed in tissues with high proliferative or UV exposure rates.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAD23A Knockout HEK293 Cell Line | EDJ-KQ2724 | Human | 5886 | Details Get a Quote |
| RAD23A Knockout A-549 Cell Line | EDJ-KQ23579 | Human | 5886 | Details Get a Quote |
| RAD23A Knockout HCT 116 Cell Line | EDJ-KQ23580 | Human | 5886 | Details Get a Quote |
| RAD23A Knockout HeLa Cell Line | EDJ-KQ23581 | Human | 5886 | Details Get a Quote |
