TGFBR1 — Transforming Growth Factor Beta Receptor 1

TGFBR1 Gene

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">TGFBR1 — Transforming Growth Factor Beta Receptor 1</th>
</tr>
<tr>
<td class="label">Official Symbol</td>
<td>TGFBR1</td>
</tr>
<tr>
<td class="label">Official Full Name</td>
<td>Transforming Growth Factor Beta Receptor 1</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>9q22.33</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>7046</td>
</tr>
<tr>
<td class="label">OMIM</td>
<td>191181</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000106799</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>P36897</td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">1 edges</a></td>
</tr>
</table>

Introduction

TGFBR1 (Transforming Growth Factor Beta Receptor 1) is a critical component of TGF-beta signaling in the nervous system. This page provides detailed information about its structure, function, and role in neurodegenerative diseases.

Overview

TGFBR1 (Transforming Growth Factor Beta Receptor 1) encodes the transmembrane serine/threonine kinase receptor that mediates TGF-beta signaling in the central nervous system[@massague2012][@todo2020]. As the primary type I receptor for TGF-beta ligands, TGFBR1 plays essential roles in regulating neuroinflammation, neuronal survival, synaptic plasticity, and glial cell function[@luo2019].

Gene Information

TGFBR1 Gene

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">TGFBR1 — Transforming Growth Factor Beta Receptor 1</th>
</tr>
<tr>
<td class="label">Official Symbol</td>
<td>TGFBR1</td>
</tr>
<tr>
<td class="label">Official Full Name</td>
<td>Transforming Growth Factor Beta Receptor 1</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>9q22.33</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>7046</td>
</tr>
<tr>
<td class="label">OMIM</td>
<td>191181</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000106799</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>P36897</td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">1 edges</a></td>
</tr>
</table>

Introduction

TGFBR1 (Transforming Growth Factor Beta Receptor 1) is a critical component of TGF-beta signaling in the nervous system. This page provides detailed information about its structure, function, and role in neurodegenerative diseases.

Overview

TGFBR1 (Transforming Growth Factor Beta Receptor 1) encodes the transmembrane serine/threonine kinase receptor that mediates TGF-beta signaling in the central nervous system[@massague2012][@todo2020]. As the primary type I receptor for TGF-beta ligands, TGFBR1 plays essential roles in regulating neuroinflammation, neuronal survival, synaptic plasticity, and glial cell function[@luo2019].

Gene Information

Protein Structure and Function

TGFBR1 is a transmembrane receptor kinase consisting of:

• Extracellular domain: Contains cysteine-rich regions that mediate ligand binding
• Transmembrane domain: Single-pass transmembrane helix
• Cytoplasmic serine/threonine kinase domain: Mediates downstream signaling through phosphorylation

Functions in the Nervous System

• TGF-beta signal initiation: Primary mediator of TGF-beta1, TGF-beta2, and TGF-beta3 signaling[@gordon2020]
• Neuroinflammation regulation: Controls microglial activation and pro-inflammatory cytokine production[@brionne2021]
• Neuronal survival: Mediates TGF-beta-induced neuroprotective effects through SMAD2/SMAD3 signaling[@kane2018]
• Synaptic plasticity: Modulates excitatory synaptic transmission and [long-term potentiation](/mechanisms/long-term-potentiation)[@ferguson2019]
• [Blood-brain barrier](/entities/blood-brain-barrier) integrity: Regulates endothelial cell function and BBB maintenance[@tichauer2020]

Expression in the Brain

TGFBR1 is expressed throughout the brain:

• [Neurons](/entities/neurons): Moderate expression in [cortex](/brain-regions/cortex), [hippocampus](/brain-regions/hippocampus), basal ganglia, and cerebellum[@stipursky2018]
• [Astrocytes](/entities/astrocytes): High expression, particularly in reactive astrocytes[@hamby2020]
• [Microglia](/cell-types/microglia-neuroinflammation): Present in resting and activated microglial states[@liu2021]
• Endothelial cells: Expressed in cerebral blood vessels[@nitta2019]
• Oligodendrocytes: Expression in mature oligodendrocytes[@palazuelos2021]

Role in Neurodegeneration

Alzheimer's Disease

• TGFBR1 signaling is altered in AD brain, with changes in both neurons and glia[@caraci2021]
• TGF-beta signaling deficits may contribute to increased neuroinflammation in AD[@tolar2020]
• Impaired TGF-beta signaling may affect amyloid clearance mechanisms[@wysscoray2020]
• Reduced TGFBR1 expression correlates with cognitive decline in AD patients[@mousseau2021]

Parkinson's Disease

• TGFBR1 plays a role in protecting dopaminergic neurons from oxidative stress[@rai2022]
• TGF-beta signaling may modulate [alpha-synuclein](/proteins/alpha-synuclein) toxicity[@reynolds2021]
• Altered TGFBR1 expression observed in PD substantia nigra[@tong2019]

Amyotrophic Lateral Sclerosis

• TGF-beta signaling through TGFBR1 may influence motor neuron survival[@dormann2020]
• Dysregulation of TGF-beta pathway components in ALS motor cortex[@ilieva2019]

Frontotemporal Dementia

• TGFBR1 signaling linked to progranulin-mediated neuronal survival[@minami2020]

Therapeutic Implications

• Small molecule inhibitors: TGFBR1 kinase inhibitors being explored for various conditions[@akhurst2021]
• TGF-beta agonists: Activation of TGFBR1 signaling may have neuroprotective effects[@sakauchi2021]
• Gene therapy approaches: Targeting TGFBR1 expression for neurodegenerative diseases[@endo2022]

Key Publications

See Also

• [TGF-beta Signaling Pathway in Neurodegeneration](/mechanisms/tgf-beta-signaling-pathway)
• [TGFBR2 Gene](/genes/tgfrb2)
• [SMAD2 Gene](/genes/smad2)
• [SMAD3 Gene](/genes/smad3)
• [TGF-β1 Protein](/proteins/tgfb1-protein)
• [Neuroinflammation](/mechanisms/neuroinflammation)

Background

The study of Tgfbr1 — Transforming Growth Factor Beta Receptor 1 has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.

Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.

External Links

• [PubMed](https://pubmed.ncbi.nlm.nih.gov/) - Biomedical literature
• [Alzheimer's Disease Neuroimaging Initiative](https://adni.loni.usc.edu/) - Research data
• [Allen Brain Atlas](https://brain-map.org/) - Brain gene expression data

References