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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RHOBTB1
Rho related BTB domain containing 1
Chromosome 10 · 10q21.2
NCBI Gene: 9886Ensembl: ENSG00000072422.18HGNC: HGNC:18738UniProt: O94844
37PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingGTP bindingprotein kinase bindingactin filament organizationAbnormality of the skeletal systemrectosigmoid junction neoplasmtrauma complicationCOVID-19
✦AI Summary

RHOBTB1 (Rho-related BTB domain containing 1) is an atypical Rho GTPase that functions primarily as a substrate adaptor protein in the Cullin-3 ubiquitin ligase system, regulating protein degradation and cellular homeostasis 1. The protein contains two BTB domains and a C-terminal domain that are essential for recruiting substrates like phosphodiesterase 5 (PDE5) for ubiquitination and proteasomal degradation 1. In vascular smooth muscle cells, RHOBTB1 acts as a PPARγ target gene that mediates cardioprotective effects by controlling PDE5 levels, thereby regulating cGMP signaling and maintaining vasodilator responsiveness 23. RHOBTB1 also interacts with ROCK1 and ROCK2 kinases through its Rho domain, and serves as a ROCK1 substrate, with phosphorylation affecting its association with Cullin-3 4. The protein functions as a tumor suppressor, regulating Golgi integrity through METTL7B and controlling breast cancer cell invasion 5. Loss of RHOBTB1 expression promotes cancer cell invasion and is associated with Golgi fragmentation 54. Additionally, RHOBTB1 is subject to epigenetic regulation, with hypomethylation linked to diminished ovarian reserve and granulosa cell apoptosis through FGF18-MAPK pathway activation 6.

Sources cited
1
RHOBTB1 functions as substrate adaptor for Cullin-3 ubiquitin ligase system and requires C-terminal domains for PDE5 recruitment
PMID: 37575477
2
RHOBTB1 is a PPARγ target gene in vascular smooth muscle that mediates cardioprotective effects through PDE5 regulation
PMID: 31789920
3
RHOBTB1 controls cGMP levels and smooth muscle responsiveness to nitric oxide through PDE5 degradation
PMID: 38196837
4
RHOBTB1 interacts with ROCK1/ROCK2 kinases and suppresses cancer cell invasion
PMID: 31431478
5
RHOBTB1 regulates Golgi integrity through METTL7B and controls breast cancer cell invasion
PMID: 28219369
6
RHOBTB1 hypomethylation leads to FGF18 regulation and granulosa cell apoptosis through MAPK pathway
PMID: 40957879
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.41Moderate
rectosigmoid junction neoplasmOpen Targets
0.35Weak
trauma complicationOpen Targets
0.29Weak
COVID-19Open Targets
0.29Weak
cervical carcinomaOpen Targets
0.27Weak
facial nerve diseaseOpen Targets
0.26Weak
androgenetic alopeciaOpen Targets
0.25Weak
oral mucosa leukoplakiaOpen Targets
0.19Weak
alcohol drinkingOpen Targets
0.19Weak
muscular diseaseOpen Targets
0.12Weak
bipolar disorderOpen Targets
0.05Suggestive
thyroid hormone resistance, generalized, autosomal dominantOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.04Suggestive
familial hyperthyroidism due to mutations in TSH receptorOpen Targets
0.04Suggestive
Barrett's esophagusOpen Targets
0.04Suggestive
papillary thyroid carcinomaOpen Targets
0.04Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.04Suggestive
attention deficit hyperactivity disorderOpen Targets
0.04Suggestive
major depressive disorderOpen Targets
0.04Suggestive
hypothyroidism due to TSH receptor mutationsOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KLHL13Protein interaction100%KLHL9Protein interaction100%KEAP1Protein interaction98%RHOBTB2Protein interaction93%COPS6Protein interaction86%COPS7AProtein interaction83%
Tissue Expression6 tissues
Heart
100%
Ovary
53%
Lung
47%
Brain
26%
Liver
24%
Bone Marrow
10%
Gene Interaction Network
Click a node to explore
RHOBTB1KLHL13KLHL9KEAP1RHOBTB2COPS6COPS7A
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O94844
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.68LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.52 [0.40–0.68]
RankingsWhere RHOBTB1 stands among ~20K protein-coding genes
  • #10,681of 20,598
    Most Researched37
  • #5,064of 17,882
    Most Constrained (LOEUF)0.68
Genes detectedRHOBTB1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PPARγ and RhoBTB1 in hypertension.
PMID: 31789920
Curr Opin Nephrol Hypertens · 2020
1.00
2
Transgenerational inheritance of diminished ovarian reserve triggered by prenatal propylparaben exposure in mice.
PMID: 40957879
Nat Commun · 2025
0.90
3
Structure and Function of RhoBTB1 Required for Substrate Specificity and Cullin-3 Ubiquitination.
PMID: 37575477
Function (Oxf) · 2023
0.80
4
The tumor suppressor gene RhoBTB1 is a novel target of miR-31 in human colon cancer.
PMID: 23258531
Int J Oncol · 2013
0.70
5
A susceptibility gene signature for ERBB2-driven mammary tumour development and metastasis in collaborative cross mice.
PMID: 39067134
EBioMedicine · 2024
0.60