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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TGFBRAP1
transforming growth factor beta receptor associated protein 1
Chromosome 2 · 2q12.1-q12.2
NCBI Gene: 9392Ensembl: ENSG00000135966.15HGNC: HGNC:16836UniProt: Q8WUH2
42PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
early endosomeSMAD bindingendosome to lysosome transporttransforming growth factor beta receptor bindingsubstance-related disorderobesityAbdominal Aortic Aneurysmintelligence
✦AI Summary

TGFBRAP1 (transforming growth factor beta receptor associated protein 1) functions as a multifaceted regulator in both TGF-β signaling and endosomal trafficking pathways. In TGF-β signaling, TGFBRAP1 acts as a positive regulator by interacting with and stabilizing TGF-β receptor type 1 (TGFBR1), competing with E3 ubiquitin ligases Smurf1/2 to prevent receptor degradation 1. This stabilization creates a positive feedback loop, as TGF-β signaling upregulates TGFBRAP1 expression, particularly in drug-resistant cancer stem cells 1. TGFBRAP1 also modulates TGF-β/SMAD7 signaling through interactions with FOXO3, contributing to pulmonary fibrosis pathogenesis 2. In endosomal trafficking, TGFBRAP1 functions as a component of the CORVET complex, mediating early endosome fusion and Rab5-to-Rab7 conversion 3. Overexpression of TGFBRAP1 can disrupt HOPS complex assembly, impairing autophagosome-lysosome fusion and affecting lysosomal hydrolase delivery 3. Clinically, TGFBRAP1 expression correlates with cancer stemness and drug resistance in hepatocellular carcinoma 1, and genetic variants are associated with blood pressure regulation and type 2 diabetes mellitus susceptibility 45.

Sources cited
1
TGFBRAP1 stabilizes TGFBR1 by competing with ubiquitin ligases and creates positive feedback in TGF-β signaling, particularly in drug-resistant cancer stem cells
PMID: 38981014
2
TGFBRAP1 interacts with FOXO3 to modulate TGF-β/SMAD7 signaling in pulmonary fibrosis
PMID: 31085559
3
TGFBRAP1 functions as CORVET complex component and its overexpression disrupts HOPS assembly, affecting autophagosome-lysosome fusion
PMID: 38698024
4
TGFBRAP1 genetic variants are associated with blood pressure regulation and plasma TGF-β1 levels
PMID: 25856002
5
TGFBRAP1 variants are associated with type 2 diabetes mellitus susceptibility and affect diabetes-related miRNA expression
PMID: 30461200
Disease Associationsⓘ20
substance-related disorderOpen Targets
0.27Weak
obesityOpen Targets
0.25Weak
Abdominal Aortic AneurysmOpen Targets
0.23Weak
intelligenceOpen Targets
0.19Weak
smoking initiationOpen Targets
0.18Weak
schizophreniaOpen Targets
0.18Weak
upper respiratory tract disorderOpen Targets
0.08Suggestive
type 2 diabetes mellitusOpen Targets
0.05Suggestive
bile duct disorderOpen Targets
0.02Suggestive
diabetes mellitusOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
pemphigus foliaceusOpen Targets
0.01Suggestive
IGA glomerulonephritisOpen Targets
0.01Suggestive
cryptococcosisOpen Targets
0.00Suggestive
hepatitis B virus infectionOpen Targets
0.00Suggestive
hypertensionOpen Targets
0.00Suggestive
immune system diseaseOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CCZ1Protein interaction94%CCZ1BProtein interaction94%VTI1BProtein interaction94%CHMP2AProtein interaction86%YKT6Protein interaction84%SBNO1Protein interaction81%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
41%
Heart
39%
Brain
38%
Ovary
35%
Liver
25%
Gene Interaction Network
Click a node to explore
TGFBRAP1CCZ1CCZ1BVTI1BCHMP2AYKT6SBNO1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8WUH2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.35Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.24 [0.17–0.35]
RankingsWhere TGFBRAP1 stands among ~20K protein-coding genes
  • #9,950of 20,598
    Most Researched42
  • #1,510of 17,882
    Most Constrained (LOEUF)0.35 · top 10%
Genes detectedTGFBRAP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Arachidonate 5-lipoxygenase.
PMID: 12432920
Prostaglandins Other Lipid Mediat · 2002
1.00
2
Stabilization of TGF-β Receptor 1 by a Receptor-Associated Adaptor Dictates Feedback Activation of the TGF-β Signaling Pathway to Maintain Liver Cancer Stemness and Drug Resistance.
PMID: 38981014
Adv Sci (Weinh) · 2024
0.90
3
Polymorphisms of the TGFBRAP1 gene in relation to blood pressure variability and plasma TGF-β1.
PMID: 25856002
Clin Exp Hypertens · 2015
0.80
4
Chitinase 1 regulates pulmonary fibrosis by modulating TGF-β/SMAD7 pathway via TGFBRAP1 and FOXO3.
PMID: 31085559
Life Sci Alliance · 2019
0.70
5
CORVET-specific subunit levels determine the balance between HOPS/CORVET endosomal tethering complexes.
PMID: 38698024
Sci Rep · 2024
0.60