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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RBKS
ribokinase
Chromosome 2 · 2p23.2
NCBI Gene: 64080Ensembl: ENSG00000171174.16HGNC: HGNC:30325UniProt: Q9H477
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcytoplasmidentical protein bindingribokinase activitygoutAbnormality of the skeletal systemschizophreniadiabetes mellitus
✦AI Summary

RBKS (ribokinase) catalyzes the phosphorylation of ribose to D-ribose-5-phosphate, serving as a critical entry point for ribose metabolism. This product feeds into nucleotide synthesis, amino acid biosynthesis (histidine and tryptophan), and the pentose phosphate pathway 1. RBKS operates in the cytoplasm and participates in cellular energy metabolism and biosynthetic processes. Mechanistically, RBKS functions upstream in metabolic networks regulating pentose phosphate pathway flux. TKT (transketolase) promotes AML progression through RBKS-mediated pentose phosphate pathway activation, facilitating epithelial-mesenchymal transition 2. RBKS expression influences gastrointestinal motility; Rbks mutations cause ribose accumulation in the small intestine, accelerating gut movement and suppressing weight gain in mice 1. Clinically, RBKS associates with multiple disease states. Genome-wide analysis identified RBKS as a shared glucose metabolism gene across major psychiatric disorders (depression, bipolar disorder, and schizophrenia) 3. RBKS appears elevated in trigeminal neuralgia patients and normalizes post-surgical intervention 4. In pancreatic cancer, RBKS silencing sensitizes cells to chemotherapy, suggesting a chemo-resistant role 5. Additionally, rare coding variants in RBKS associate with cognitive performance in Alzheimer's disease 6, and dysregulated RBKS expression contributes to recurrent implantation failure pathogenesis 7. Colonic diverticulosis susceptibility involves RBKS as a metabolism-related genetic determinant 8.

Sources cited
1
RBKS encodes ribokinase, the first enzyme in ribose metabolism; Rbks mutations cause ribose accumulation and accelerated gut motility; ribose oral treatment enhances bowel motility and suppresses weight gain
PMID: 27194947
2
TKT is located upstream of RBKS and promotes AML progression through RBKS-mediated regulation of the pentose phosphate pathway and EMT
PMID: 40531362
3
RBKS is a glucose metabolism gene shared across major depressive disorder, bipolar disorder, and schizophrenia, identified through MAGMA analysis
PMID: 40498271
4
RBKS protein levels are increased in trigeminal neuralgia patients and normalize following successful microvascular decompression surgery
PMID: 38158702
5
RBKS silencing in pancreatic cancer cells sensitizes them to Doxorubicin and Gemcitabine, indicating a chemo-resistant role but not a proliferative one
PMID: 33045974
6
Rare coding variation in RBKS contributes exome-wide significantly to cognitive performance in Alzheimer's disease
PMID: 36464806
7
RBKS is identified as a characteristic metabolic gene in recurrent implantation failure with diagnostic biomarker potential
PMID: 37686293
8
RBKS is identified as a metabolism and transporter gene candidate predisposing to colonic diverticulosis in GWAS studies
PMID: 40428403
Disease Associationsⓘ20
goutOpen Targets
0.36Weak
Abnormality of the skeletal systemOpen Targets
0.33Weak
schizophreniaOpen Targets
0.29Weak
diabetes mellitusOpen Targets
0.28Weak
bipolar disorderOpen Targets
0.26Weak
androgenetic alopeciaOpen Targets
0.24Weak
celiac diseaseOpen Targets
0.24Weak
nephrolithiasisOpen Targets
0.23Weak
urolithiasisOpen Targets
0.23Weak
hair colorOpen Targets
0.22Weak
HyperhidrosisOpen Targets
0.22Weak
major depressive disorderOpen Targets
0.20Weak
allergic rhinitisOpen Targets
0.20Weak
attention deficit hyperactivity disorderOpen Targets
0.19Weak
anorexia nervosaOpen Targets
0.19Weak
obsessive-compulsive disorderOpen Targets
0.19Weak
liver cancerOpen Targets
0.19Weak
autism spectrum disorderOpen Targets
0.18Weak
Tourette syndromeOpen Targets
0.18Weak
smoking initiationOpen Targets
0.16Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GPIProtein interaction100%PRPS1Protein interaction96%RPEProtein interaction96%TKTL1Protein interaction96%PGM2Protein interaction96%TKTL2Protein interaction96%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
48%
Ovary
22%
Heart
16%
Lung
12%
Brain
11%
Gene Interaction Network
Click a node to explore
RBKSGPIPRPS1RPETKTL1PGM2TKTL2
PROTEIN STRUCTURE
Preparing viewer…
PDB9CVB · 1.45 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.28LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.87 [0.61–1.28]
RankingsWhere RBKS stands among ~20K protein-coding genes
  • #14,516of 20,598
    Most Researched19
  • #13,492of 17,882
    Most Constrained (LOEUF)1.28
Genes detectedRBKS
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Multi-omics Analysis of Energy Metabolism Pathways Across Major Psychiatric Disorders.
PMID: 40498271
Mol Neurobiol · 2025
1.00
2
Exploring biomarkers in trigeminal neuralgia patients operated with microvascular decompression: A comparison with multiple sclerosis patients and non-neurological controls.
PMID: 38158702
Eur J Pain · 2024
0.90
3
Ribose Accelerates Gut Motility and Suppresses Mouse Body Weight Gaining.
PMID: 27194947
Int J Biol Sci · 2016
0.80
4
Studying the Anti-Tumor Effects of siRNA Gene Silencing of Some Metabolic Genes in Pancreatic Ductal Adenocarcinoma.
PMID: 33045974
Curr Mol Pharmacol · 2021
0.70
5
Genetic Determinants of Colonic Diverticulosis-A Systematic Review.
PMID: 40428403
Genes (Basel) · 2025
0.60