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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RHOBTB3
Rho related BTB domain containing 3
Chromosome 5 · 5q15
NCBI Gene: 22836Ensembl: ENSG00000164292.14HGNC: HGNC:18757UniProt: O94955
51PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ATP bindingextracellular exosomeATP hydrolysis activitysmall GTPase bindingmyeloid leukemiaAbnormality of the gastrointestinal tracthyperpituitarismdiabetes mellitus
✦AI Summary

RHOBTB3 is a Rab9-regulated ATPase with dual functions in vesicular transport and protein degradation. As a retrograde transport regulator, RHOBTB3 mediates endosome-to-Golgi transport by binding specifically to Rab9 and facilitating mannose 6-phosphate receptor trafficking through vesicle docking at the Golgi 1. Its intrinsic ATPase activity is autoinhibited but activated by Rab9 interaction [UniProt annotation]. Beyond vesicular transport, RHOBTB3 functions as a ubiquitin ligase adaptor regulating multiple signaling pathways. It promotes proteasomal degradation of hypoxia-inducible factor 1-alpha (HIF-1α) by scaffolding a multi-subunit complex containing PHD2 and VHL, thereby suppressing the Warburg effect and tumor growth 2. RHOBTB3 also negatively regulates autophagy by mediating AMBRA1 ubiquitination and proteasomal degradation through K27-linked ubiquitin chains 3. In cancer contexts, RHOBTB3 expression is typically reduced in renal carcinomas and inversely associated with HIF-1 signaling activation; microRNA-142-3p suppresses RhoBTB3 to promote renal cell carcinoma progression 4, while ISG20-mediated RHOBTB3 mRNA degradation enhances breast cancer stemness and immune evasion 5. RHOBTB3 is confirmed as an imprinted gene in human placenta 6, suggesting developmental significance. These findings indicate RHOBTB3 functions as a tumor suppressor through HIF-1α regulation and autophagy inhibition.

Sources cited
1
RHOBTB3 C-terminus specifically binds Rab9 for endosome-to-Golgi transport and mannose 6-phosphate receptor trafficking
PMID: 25670879
2
RHOBTB3 negatively regulates autophagy by mediating AMBRA1 ubiquitination and K27-linked proteasomal degradation
PMID: 39404422
3
RHOBTB3 scaffolds PHD2-VHL-HIF1α complex to promote HIF-1α hydroxylation and ubiquitination, suppressing Warburg effect and tumor growth
PMID: 26215701
4
miR-142-3p targets RHOBTB3 to promote renal cell carcinoma progression via HIF-1 signaling activation
PMID: 37045834
5
ISG20 degrades RHOBTB3 mRNA, increasing HIF-1α expression and promoting breast cancer stemness and immune evasion
PMID: 41385111
6
RHOBTB3 is confirmed as an imprinted gene in human placenta
PMID: 25437054
7
RHOBTB3 is upregulated in breast cancer tissues and regulates proliferation and invasion via Col1a1 expression
PMID: 35698915
8
RHOBTB3 forms complex with PHD2 to regulate HIF-1α ubiquitination and stability in UVR-induced skin damage
PMID: 40311591
Disease Associationsⓘ20
myeloid leukemiaOpen Targets
0.32Weak
Abnormality of the gastrointestinal tractOpen Targets
0.24Weak
hyperpituitarismOpen Targets
0.19Weak
diabetes mellitusOpen Targets
0.17Weak
chronic obstructive pulmonary diseaseOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.08Suggestive
acute myeloid leukemiaOpen Targets
0.08Suggestive
amelogenesis imperfectaOpen Targets
0.05Suggestive
OligodontiaOpen Targets
0.05Suggestive
tooth agenesisOpen Targets
0.05Suggestive
dentinogenesis imperfectaOpen Targets
0.04Suggestive
dentin dysplasia type IOpen Targets
0.04Suggestive
vascular diseaseOpen Targets
0.03Suggestive
Fuhrmann syndromeOpen Targets
0.03Suggestive
Eiken syndromeOpen Targets
0.03Suggestive
coxopodopatellar syndromeOpen Targets
0.03Suggestive
amelogenesis imperfecta, type ijOpen Targets
0.03Suggestive
Hypoplastic amelogenesis imperfectaOpen Targets
0.03Suggestive
Hypomaturation amelogenesis imperfectaOpen Targets
0.03Suggestive
infectious diseaseOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RAB9AProtein interaction98%GCC2Protein interaction98%PLIN3Protein interaction98%HGSProtein interaction87%VTI1AProtein interaction85%RAB9BProtein interaction82%
Tissue Expression6 tissues
Ovary
100%
Brain
95%
Heart
64%
Liver
30%
Lung
22%
Bone Marrow
20%
Gene Interaction Network
Click a node to explore
RHOBTB3RAB9AGCC2PLIN3HGSVTI1ARAB9B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O94955
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.77LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.53 [0.36–0.77]
RankingsWhere RHOBTB3 stands among ~20K protein-coding genes
  • #8,723of 20,598
    Most Researched51
  • #6,251of 17,882
    Most Constrained (LOEUF)0.77
Genes detectedRHOBTB3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Molecular modeling and molecular dynamics simulation study of the human Rab9 and RhoBTB3 C-terminus complex.
PMID: 25670879
Bioinformation · 2014
1.00
2
RhoBTB3 Functions as a Novel Regulator of Autophagy by Suppressing AMBRA1 Stability.
PMID: 39404422
Cells · 2024
0.90
3
Diosmetin attenuates the ubiquitination of epidermal hypoxia-inducible factor 1 alpha by diminishing the formation of RhoBTB3/PHD2 complex in ultraviolet radiation-induced sunburn in mice.
PMID: 40311591
Phytomedicine · 2025
0.80
4
RhoBTB3 Regulates Proliferation and Invasion of Breast Cancer Cells via Col1a1.
PMID: 35698915
Mol Cells · 2022
0.70
5
RHOBTB3 promotes proteasomal degradation of HIFα through facilitating hydroxylation and suppresses the Warburg effect.
PMID: 26215701
Cell Res · 2015
0.60