TGFBR1 — TGF-beta Receptor 1

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

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

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 length
• Extracellular domain: Ligand binding
• Transmembrane domain: Single pass
• Serine/threonine kinase domain: Intracellular signaling

Normal 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 neuroprotective
• Synaptic plasticity: Modulates excitatory/inhibitory balance
• Astrocyte function: Regulates astrocyte reactivity
• Neuroinflammation: Generally anti-inflammatory

Disease Associations

Alzheimer's Disease

• Dysregulated TGF-β signaling in AD brain
• Reduced 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 activation
• Oligodendrocytes: Present

Therapeutic Targeting

Agonists

• TGF-β1: Recombinant protein
• Small molecule activators: Under development

Antagonists

• SB431542: TGFBR1 kinase inhibitor
• SMAD inhibitors: Downstream blockade

Challenges

• 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

Pathway Diagram

The following diagram shows the key molecular relationships involving TGFBR1 — TGF-beta Receptor 1 discovered through SciDEX knowledge graph analysis: