RAD23B: A Key Player in Nucleotide Excision Repair and Proteasomal Degradation
Comprehensive gene card for RAD23B, including genomic context, expression, mutations, and disease associations.
Gene Information Card
| Symbol | RAD23B |
|---|---|
| Full Name | RAD23 homolog B, nucleotide excision repair protein |
| Gene Type | protein-coding |
| Chromosomal Location | 9q31.2 |
| NCBI Gene ID | 5887 ncbi.nlm.nih.gov/gene/5887 |
| Ensembl ID | ENSG00000119318 |
| UniProt ID | P54727 |
| OMIM ID | 600062 |
| HGNC ID | 9812 |
| Aliases | HR23B, HHR23B, P58 |
Description
RAD23B encodes a protein that is involved in nucleotide excision repair (NER) and proteasomal degradation. It functions as a component of the XPC complex, which recognizes DNA damage, and also shuttles ubiquitinated proteins to the proteasome. RAD23B is essential for maintaining genomic stability and is implicated in xeroderma pigmentosum and cancer susceptibility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Xeroderma Pigmentosum, Group C (XPC) | Defective NER due to impaired XPC complex formation; RAD23B mutations reduce damage recognition. | ClinVar, OMIM |
| Cutaneous Malignant Melanoma | Altered DNA repair capacity increases mutation burden and melanoma risk. | COSMIC, ClinVar |
| Breast Cancer | RAD23B polymorphisms associated with altered DNA repair efficiency and cancer risk. | NCBI Gene, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Skin | 8.2 | Medium |
| Lung | 6.1 | Medium |
| Liver | 4.8 | Low |
| Brain | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.3 | Cervical cancer cell line |
| A549 | 7.8 | Lung carcinoma cell line |
| MCF7 | 6.5 | Breast cancer cell line |
| HEK293 | 9.1 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.892C>T (p.Arg298*) | Nonsense | <0.1% | Loss of function; truncated protein disrupts NER |
| c.1129G>A (p.Gly377Ser) | Missense | 0.2% | Reduced XPC binding affinity |
| c.1465_1466del (p.Leu489fs) | Frameshift | <0.1% | Loss of function; impaired proteasome shuttling |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg298*, p.Leu489fs) lead to truncated or unstable protein, impairing NER and proteasomal targeting.
Gain of Function (GOF)
No gain-of-function mutations reported in RAD23B.
Dominant Negative (DN)
Missense mutations (e.g., p.Gly377Ser) may act as dominant negative by competing with wild-type RAD23B for XPC binding.
View complete mutation data：
Gene Ontology (GO)
| • nucleotide-excision repair | • protein ubiquitination |
| • proteasome-mediated ubiquitin-dependent protein catabolic process | • DNA damage recognition |
| • protein binding |
Pathways
• Nucleotide Excision Repair (NER)
• Proteasome Degradation
• Ubiquitin-Proteasome Pathway
Protein Summary
RAD23B is a 43 kDa protein containing an N-terminal ubiquitin-like (UBL) domain and two C-terminal ubiquitin-associated (UBA) domains. It binds to XPC via its UBL domain and to ubiquitinated proteins via its UBA domains, facilitating both DNA repair and proteasomal delivery. The protein is predominantly nuclear and expressed ubiquitously.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAD23B Knockout HEK293 Cell Line | EDJ-KQ5626 | Human | 5887 | Details Get a Quote |
| RAD23B Knockout A-549 Cell Line | EDJ-KQ28941 | Human | 5887 | Details Get a Quote |
| RAD23B Knockout HCT 116 Cell Line | EDJ-KQ28942 | Human | 5887 | Details Get a Quote |
| RAD23B Knockout HeLa Cell Line | EDJ-KQ28943 | Human | 5887 | Details Get a Quote |
