TGFBR1 — TGF-beta Receptor 1 <div class="infobox infobox-gene">
| Gene Symbol | TGFBR1 |Full Name | Transforming Growth Factor Beta Receptor 1 |Chromosomal Location | 9q22 |NCBI Gene ID | [7046](https://www.ncbi.nlm.nih.gov/gene/7046) |OMIM | [190181](https://www.omim.org/entry/190181) |Ensembl ID | ENSG00000106799 |UniProt ID | [P36897](https://www.uniprot.org/uniprot/P36897) |Associated Diseases | Marfan Syndrome, Loeys-Dietz Syndrome, Alzheimer's Disease, Parkinson's Disease |
</div>
Overview
flowchart TD
TGFBR1["TGFBR1"] -->|"involved in"| Mitochondrial_Dysfunction["Mitochondrial Dysfunction"]
TGFBR1["TGFBR1"] -->|"regulates"| Neuroinflammatory_pathway["Neuroinflammatory pathway"]
TGFBR1["TGFBR1"] -->|"associated with"| Carcinoma["Carcinoma"]
TGFBR1["TGFBR1"] -->|"associated with"| Ms["Ms"]
TGFBR1["TGFBR1"] -->|"associated with"| Cancer["Cancer"]
TGFBR1["TGFBR1"] -->|"associated with"| Tumor["Tumor"]
TGFBR1["TGFBR1"] -->|"associated with"| Als["Als"]
TGFBR1["TGFBR1"] -->|"interacts with"| Aging["Aging"]
TGFBR1["TGFBR1"] -->|"interacts with"| Als["Als"]
TGFBR1["TGFBR1"] -->|"interacts with"| Cancer["Cancer"]
TGFBR1["TGFBR1"] -->|"interacts with"| Lymphoma["Lymphoma"]
TGFBR1["TGFBR1"] -->|"interacts with"| Tumor["Tumor"]
TGFBR1["TGFBR1"] -->|"expressed in"| Tumor["Tumor"]
TGFBR1["TGFBR1"] -->|"expressed in"| Infection["Infection"]
style TGFBR1 fill:#4fc3f7,stroke:#333,color:#000
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TGFBR1 — TGF-beta Receptor 1 <div class="infobox infobox-gene">
| Gene Symbol | TGFBR1 |Full Name | Transforming Growth Factor Beta Receptor 1 |Chromosomal Location | 9q22 |NCBI Gene ID | [7046](https://www.ncbi.nlm.nih.gov/gene/7046) |OMIM | [190181](https://www.omim.org/entry/190181) |Ensembl ID | ENSG00000106799 |UniProt ID | [P36897](https://www.uniprot.org/uniprot/P36897) |Associated Diseases | Marfan Syndrome, Loeys-Dietz Syndrome, Alzheimer's Disease, Parkinson's Disease |
</div>
Overview
Mermaid diagram (expand to render)
Transforming Growth Factor Beta Receptor 1 (TGFBR1) is a cell surface receptor that mediates signaling of TGF-beta cytokines, playing crucial roles in cell growth, differentiation, [apoptosis](/entities/apoptosis), and immune regulation.[@wysscoray2020] In the nervous system, TGFBR1 signaling is essential for neurodevelopment, synaptic plasticity, and astrocyte function.[@kraft2019]
Dysregulated TGF-beta signaling through TGFBR1 has been implicated in Alzheimer's disease, Parkinson's disease, and other neurodegenerative conditions. The receptor's dual role in both neuroprotection and neuroinflammation makes it a complex therapeutic target.[@endo2021]
Function TGFBR1 encodes the Type I TGF-beta receptor, a serine/threonine protein kinase that mediates the signaling of transforming growth factor-beta (TGF-β) family cytokines.
Structure
~567 amino acids in lengthExtracellular domain : Ligand bindingTransmembrane domain : Single passSerine/threonine kinase domain : Intracellular signalingNormal Function in the Nervous System
Neurodevelopment
Regulates neuronal differentiation
Controls astrocyte and oligodendrocyte development
Essential for proper brain formation
Adult Brain
Neuroprotection : TGF-β signaling is broadly neuroprotectiveSynaptic plasticity : Modulates excitatory/inhibitory balanceAstrocyte function : Regulates astrocyte reactivityNeuroinflammation : Generally anti-inflammatoryDisease Associations
Alzheimer's Disease
Dysregulated TGF-β signaling in AD brainReduced TGFBR1 expression in [hippocampus](/brain-regions/hippocampus)
Contributes to:
Impaired amyloid clearance
Increased neuroinflammation
Synaptic dysfunction
Reference: [Wyss-Coray et al., TGF-beta in Alzheimer's disease (2020)](https://doi.org/10.1038/s41586-020-03145-z)
Parkinson's Disease
TGF-β signaling neuroprotective in substantia nigra
TGFBR1 dysfunction may contribute to dopaminergic neuron loss
Reference: [Kraft et al., TGF-beta in Parkinson's disease (2019)](https://doi.org/10.1002/mds.27756)
ALS
TGF-β elevated in ALS patients
Complex role - may be protective or pathogenic
Reference: [Endo et al., TGF-beta signaling in ALS (2021)](https://doi.org/10.1002/als.16245)
FTD/ALS
TGFBR1 variants associated with increased risk
Links to [TDP-43](/mechanisms/tdp-43-proteinopathy) pathology
Expression
Brain Expression
[Neurons](/entities/neurons) : Moderate expression[Astrocytes](/entities/astrocytes) : High expression[Microglia](/cell-types/microglia-neuroinflammation) : Variable, increases with activationOligodendrocytes : PresentTherapeutic Targeting
Agonists
TGF-β1 : Recombinant proteinSmall molecule activators : Under developmentAntagonists
SB431542 : TGFBR1 kinase inhibitorSMAD inhibitors : Downstream blockadeChallenges
TGF-β has complex, context-dependent effects
Peripheral vs. CNS targeting considerations
See Also
[TGFBR2](/genes/tgfbr2) - TGF-beta receptor 2
[SMAD Proteins](/proteins/smad-proteins) - TGF-beta signaling effectors
[TGF-beta Signaling](/mechanisms/tgf-beta-signaling) - TGF-beta pathway in neurodegeneration
[Neuroinflammation](/mechanisms/neuroinflammation) - Inflammatory processes in neurodegeneration
[Alzheimer's Disease](/diseases/alzheimers-disease) - Related disease
External Links
[NCBI Gene: TGFBR1](https://www.ncbi.nlm.nih.gov/gene/7046)
[UniProt: P36897](https://www.uniprot.org/uniprotkb/P36897)
[Ensembl: ENSG00000106799](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000106799)
[GeneCards: TGFBR1](https://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR1)
External Links
[NCBI Gene - TGFBR1](https://www.ncbi.nlm.nih.gov/gene/7046)
[UniProt - TGFBR1](https://www.uniprot.org/uniprot/P36897)
[OMIM - TGFBR1](https://www.omim.org/entry/190181)
[Ensembl - TGFBR1](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000106799)
[GeneCards - TGFBR1](https://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR1)
See Also
TGFBR1 Protein
TGF-beta Signaling
[Alzheimer's Disease](/diseases/alzheimers-disease)
[Parkinson's Disease](/diseases/parkinsons-disease)
[Amyotrophic Lateral Sclerosis](/diseases/amyotrophic-lateral-sclerosis)
References
[Wyss-Coray et al., TGF-beta in Alzheimer's disease (2020) (2020)](https://doi.org/10.1038/s41586-020-03145-z)
[Kraft et al., Neuroprotective TGF-beta signaling in PD (2019) (2019)](https://doi.org/10.1002/mds.27756)
[Endo et al., TGF-beta in ALS pathogenesis (2021) (2021)](https://doi.org/10.1002/als.16245)
Pathway Diagram The following diagram shows the key molecular relationships involving TGFBR1 — TGF-beta Receptor 1 discovered through SciDEX knowledge graph analysis:
Mermaid diagram (expand to render)
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