RIOK3
RIO Kinase 3: A Regulator of Ribosome Biogenesis and Innate Immunity
Gene Information Card
| Symbol | RIOK3 |
|---|---|
| Full Name | RIO kinase 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q11.2 |
| NCBI Gene ID | 8780 ncbi.nlm.nih.gov/gene/8780 |
| Ensembl ID | ENSG00000101558 |
| UniProt ID | O14730 |
| OMIM ID | 611187 |
| HGNC ID | 18007 |
| Aliases | RIO3, AD034, bA465L10.5, MGC138207 |
Description
RIOK3 (RIO kinase 3) is a serine/threonine protein kinase belonging to the RIO family, essential for ribosome biogenesis, specifically the processing of 20S pre-rRNA to mature 18S rRNA. Beyond its ribosomal role, RIOK3 functions as a negative regulator of antiviral innate immunity by interacting with MAVS and inhibiting RIG-I signaling. It is also implicated in cell cycle progression and tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Dysregulation of ribosome biogenesis and altered kinase activity promote cell proliferation and survival. | COSMIC; literature |
| Viral infections | RIOK3 inhibits MAVS-mediated antiviral signaling, potentially modulating susceptibility to RNA viruses. | PMID: 24600012 |
| Developmental disorders | Rare variants in RIOK3 may contribute to syndromic intellectual disability. | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Brain | 8.1 | Medium |
| Liver | 6.3 | Low |
| Heart | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.3 | High expression |
| HeLa | 11.7 | Medium expression |
| K562 | 9.8 | Medium expression |
| A549 | 8.5 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown; reported in ClinVar as variant of uncertain significance |
| c.124G>A (p.Glu42Lys) | Missense | <0.01% | Potential loss of kinase activity |
| c.782_783insA | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Impairs 18S rRNA processing and ribosome assembly; may disrupt antiviral signaling.
Gain of Function (GOF)
Not well characterized; overexpression in some cancers suggests possible oncogenic gain-of-function.
Dominant Negative (DN)
Hypothesized for certain missense mutations that retain binding but lose catalytic activity.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • protein serine/threonine kinase activity |
| • ribosome biogenesis | • rRNA processing |
| • negative regulation of type I interferon production | • innate immune response |
| • cytoplasm | • nucleolus |
Pathways
• Ribosome biogenesis in eukaryotes
• RIG-I-like receptor signaling pathway
• Innate immune system
Protein Summary
RIOK3 is a 519-amino acid serine/threonine kinase with an N-terminal RIO domain and a C-terminal kinase domain. It localizes to the nucleolus and cytoplasm. The protein is critical for the final cleavage step of 20S pre-rRNA to 18S rRNA, ensuring proper small ribosomal subunit maturation. Additionally, RIOK3 binds to MAVS and inhibits RIG-I-mediated interferon induction, acting as a checkpoint in antiviral immunity. Its expression is elevated in certain cancers, suggesting a role in tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RIOK3 Knockout HEK293 Cell Line | EDJ-KQ3731 | Human | 8780 | Details Get a Quote |
| RIOK3 Knockout HCT 116 Cell Line | EDJ-KQ24417 | Human | 8780 | Details Get a Quote |
| RIOK3 Knockout A-549 Cell Line | EDJ-KQ25783 | Human | 8780 | Details Get a Quote |
| RIOK3 Knockout HeLa Cell Line | EDJ-KQ25784 | Human | 8780 | Details Get a Quote |
