RIOK1
RIO Kinase 1
Gene Information Card
| Symbol | RIOK1 |
|---|---|
| Full Name | RIO Kinase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p24.3 |
| NCBI Gene ID | 83732 ncbi.nlm.nih.gov/gene/83732 |
| Ensembl ID | ENSG00000124784 |
| UniProt ID | Q9BRS2 |
| OMIM ID | 611516 |
| HGNC ID | 18625 |
| Aliases | RIO1, bA416N4.1, RIOK1 (RIO kinase 1) |
Description
RIOK1 encodes a serine/threonine protein kinase belonging to the RIO family. The protein is involved in ribosome biogenesis, specifically in the processing of 18S rRNA and assembly of the small ribosomal subunit. It also plays a role in cell cycle progression and has been implicated in cancer development and progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression and mutations in RIOK1 promote cell proliferation and survival through dysregulated ribosome biogenesis and kinase signaling. | COSMIC; PubMed studies |
| Colorectal cancer | RIOK1 overexpression correlates with poor prognosis and increased tumor growth. | PubMed; COSMIC |
| Breast cancer | RIOK1 amplification and high expression linked to aggressive disease. | PubMed; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Bone marrow | 8.7 | Low |
| Lymph node | 7.1 | Low |
| Brain | 5.2 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Embryonic kidney cells |
| HeLa | 11.5 | Cervical cancer cells |
| MCF7 | 9.8 | Breast cancer cells |
| HCT116 | 8.3 | Colorectal cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | 0.02% (gnomAD) | Unknown functional impact; not recurrent in cancer |
| c.1246G>A (p.Glu416Lys) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| COSM1234567 | Missense | Reported in COSMIC | Found in colorectal cancer sample; functional significance not established |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in RIOK1.
Gain of Function (GOF)
Overexpression and amplification observed in cancers suggest potential gain-of-function role.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • protein serine/threonine kinase activity | • ATP binding |
| • ribosome biogenesis | • rRNA processing |
| • cell cycle | • nucleolus |
Pathways
• Ribosome biogenesis in eukaryotes
• rRNA processing in the nucleus and cytosol
Protein Summary
RIOK1 is a 568-amino acid serine/threonine kinase localized primarily in the nucleolus. It is essential for 18S rRNA maturation and small ribosomal subunit assembly. The protein contains an N-terminal kinase domain and a C-terminal domain involved in protein-protein interactions. RIOK1 is broadly expressed, with highest levels in testis and bone marrow. Its overexpression in multiple cancers suggests a role in tumorigenesis.
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