RBKS Gene - Ribokinase
Functional genomics and clinical relevance of RBKS
Gene Information Card
| Symbol | RBKS |
|---|---|
| Full Name | Ribokinase |
| Gene Type | protein-coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 64080 ncbi.nlm.nih.gov/gene/64080 |
| Ensembl ID | ENSG00000163069 |
| UniProt ID | Q9H477 |
| OMIM ID | 611259 |
| HGNC ID | HGNC:30386 |
| Aliases | RBSK, RK, Rk, ribokinase |
Description
The RBKS gene encodes ribokinase, an enzyme that catalyzes the phosphorylation of D-ribose to D-ribose-5-phosphate, the first step in ribose metabolism. This reaction is essential for nucleotide synthesis and energy metabolism. RBKS is expressed in various tissues and is implicated in cellular stress responses and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ribose-5-phosphate isomerase deficiency | Impaired ribose metabolism due to RBKS dysfunction | Inferred from functional studies (UniProt) |
| Metabolic syndrome | Altered ribose utilization affecting energy homeostasis | Association studies (NCBI Gene) |
| Cancer | Dysregulated ribose metabolism supporting tumor growth | Expression data (COSMIC) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Heart | 6.1 | Low |
| Brain | 4.2 | Low |
| Skeletal Muscle | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 10.7 | Embryonic kidney cells |
| HeLa | 9.1 | Cervical cancer cells |
| A549 | 7.4 | Lung carcinoma cells |
| K562 | 5.6 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | p.Met1Val; potential loss of start codon |
| c.245C>T | missense | <0.01% | p.Thr82Ile; reduced enzyme activity |
| c.512G>A | missense | <0.01% | p.Arg171His; altered substrate binding |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce or abolish ribokinase activity, impairing ribose phosphorylation.
Gain of Function (GOF)
Not reported; no known activating mutations.
Dominant Negative (DN)
Not reported; no evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • ribokinase activity (GO:0004747) | • D-ribose metabolic process (GO:0006013) |
| • ATP binding (GO:0005524) | • cytoplasm (GO:0005737) |
Pathways
• Ribose metabolism (Reactome: R-HSA-5661231)
• Pentose phosphate pathway (KEGG: hsa00030)
Protein Summary
Ribokinase (UniProt Q9H477) is a 322-amino acid enzyme that phosphorylates D-ribose to D-ribose-5-phosphate using ATP. It belongs to the pfkB family of carbohydrate kinases. The protein is predominantly cytoplasmic and is involved in ribose salvage and nucleotide biosynthesis. Structural studies indicate a two-domain architecture with a conserved ATP-binding site.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBKS Knockout HEK293 Cell Line | EDJ-KQ975 | Human | 64080 | Details Get a Quote |
| RBKS Knockout HCT 116 Cell Line | EDJ-KQ19992 | Human | 64080 | Details Get a Quote |
| RBKS Knockout HeLa Cell Line | EDJ-KQ19993 | Human | 64080 | Details Get a Quote |
| RBKS Knockout A-549 Cell Line | EDJ-KQ18669 | Human | 64080 | Details Get a Quote |
| RBKS Knockout K-562 Cell Line | EDJ-KZ426 | Human | 64080 | Details Get a Quote |
