NOTCH1 Gene

NOTCH1 Gene

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">NOTCH1 — Neurogenic Locus Notch Homolog Protein 1</th>
</tr>
<tr> [@bray2006]
<td class="label">Symbol</td> [@pierfelice2011]
<td><strong>NOTCH1</strong></td> [@grotewiel2020]
</tr> [@song2022]
<tr>
<td class="label">Full Name</td>
<td>Neurogenic Locus Notch Homolog Protein 1</td>
</tr>
<tr>
<td class="label">Chromosome</td>
<td>9q34.3</td>
</tr>
<tr>
<td class="label">NCBI Gene</td>
<td><a href="https://www.ncbi.nlm.nih.gov/gene/4851" target="_blank">4851</a></td>
</tr>
<tr>
<td class="label">Ensembl</td>
<td><a href="https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000148400" target="_blank">ENSG00000148400</a></td>
</tr>
<tr>
<td class="label">OMIM</td>
<td><a href="https://omim.org/entry/190198" target="_blank">190198</a></td>
</tr>
<tr>
<td class="label">UniProt</td>
<td><a href="https://www.uniprot.org/uniprot/P46531" target="_blank">P46531</a></td>
</tr>
<tr>
<td class="label">Diseases</td>
<td>[Alzheimer's Disease](/diseases/alzheimers), [Cerebral Amyloid Angiopathy](/diseases/cerebral-amyloid-angiopathy), [CADASIL](/diseases/cadasil)</td>
</tr>
<tr>
<td class="label">Expression</td>
<td>Cerebral [cortex](/brain-regions/cortex), [Hippocampus](/brain-regions/hippocampus), Neural stem cells, Vascular endothelium</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/als" style="color:#ef9a9a">ALS</a>, <a href="/wiki/aging"

NOTCH1 Gene

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">NOTCH1 — Neurogenic Locus Notch Homolog Protein 1</th>
</tr>
<tr> [@bray2006]
<td class="label">Symbol</td> [@pierfelice2011]
<td><strong>NOTCH1</strong></td> [@grotewiel2020]
</tr> [@song2022]
<tr>
<td class="label">Full Name</td>
<td>Neurogenic Locus Notch Homolog Protein 1</td>
</tr>
<tr>
<td class="label">Chromosome</td>
<td>9q34.3</td>
</tr>
<tr>
<td class="label">NCBI Gene</td>
<td><a href="https://www.ncbi.nlm.nih.gov/gene/4851" target="_blank">4851</a></td>
</tr>
<tr>
<td class="label">Ensembl</td>
<td><a href="https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000148400" target="_blank">ENSG00000148400</a></td>
</tr>
<tr>
<td class="label">OMIM</td>
<td><a href="https://omim.org/entry/190198" target="_blank">190198</a></td>
</tr>
<tr>
<td class="label">UniProt</td>
<td><a href="https://www.uniprot.org/uniprot/P46531" target="_blank">P46531</a></td>
</tr>
<tr>
<td class="label">Diseases</td>
<td>[Alzheimer's Disease](/diseases/alzheimers), [Cerebral Amyloid Angiopathy](/diseases/cerebral-amyloid-angiopathy), [CADASIL](/diseases/cadasil)</td>
</tr>
<tr>
<td class="label">Expression</td>
<td>Cerebral [cortex](/brain-regions/cortex), [Hippocampus](/brain-regions/hippocampus), Neural stem cells, Vascular endothelium</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/als" style="color:#ef9a9a">ALS</a>, <a href="/wiki/aging" style="color:#ef9a9a">Aging</a>, <a href="/wiki/als" style="color:#ef9a9a">Als</a>, <a href="/wiki/alzheimer" style="color:#ef9a9a">Alzheimer</a>, <a href="/wiki/alzheimer's-disease" style="color:#ef9a9a">Alzheimer's Disease</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">350 edges</a></td>
</tr>
</table>

NOTCH1 — Neurogenic Locus Notch Homolog Protein 1

Introduction

Notch1 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

Overview

NOTCH1 is a gene located on chromosome 9q34.3 that encodes a member of the Notch family of transmembrane receptors. The Notch signaling pathway is a highly conserved cell communication system that plays critical roles in embryonic development, cell fate determination, and neuronal function. In the central nervous system, Notch signaling regulates neurogenesis, synaptic plasticity, and glial cell differentiation. NOTCH1 is expressed in neural stem cells, [neurons](/entities/neurons), and vascular endothelial cells throughout the brain.

Dysregulation of NOTCH1 signaling has been implicated in Alzheimer's disease pathogenesis. The Notch1 intracellular domain (NICD) interacts with [amyloid precursor protein](/entities/app-protein) (APP) processing and may influence [amyloid-beta](/proteins/amyloid-beta) production. Additionally, Notch1 signaling intersects with inflammatory pathways and vascular health, both of which are relevant to neurodegenerative processes.

Function

Notch Signaling Pathway

The Notch signaling pathway is activated when a Notch ligand (Delta-like or Jagged) binds to the Notch receptor, triggering two successive proteolytic cleavages. The first cleavage is mediated by ADAM10/TACE (alpha-secretase), and the second by [gamma-secretase](/entities/gamma-secretase), releasing the Notch intracellular domain (NICD). The NICD translocates to the nucleus and forms a transcriptional complex with CSL transcription factors, activating target genes including HES (Hairy and Enhancer of Split) and HEY families.

Functions in the Nervous System

In the nervous system, NOTCH1 participates in:

• Neurogenesis: Maintains neural stem cell pools and regulates differentiation into neurons or glia
• Synaptic plasticity: Modulates [long-term potentiation](/mechanisms/long-term-potentiation) (LTP) and memory formation
• Vascular development: Regulates angiogenesis and [blood-brain barrier](/entities/blood-brain-barrier) function
• Glial differentiation: Influences astrocyte and oligodendrocyte lineage decisions

Disease Associations

Alzheimer's Disease

NOTCH1 intersects with Alzheimer's disease pathogenesis through multiple mechanisms:

Cerebral Amyloid Angiopathy

Notch1 is expressed in cerebral vascular endothelium. Dysregulated Notch1 signaling may contribute to cerebrovascular dysfunction and amyloid deposition in cerebral blood vessels.

Key Publications

Cross-links

• [Notch Signaling Pathway](/mechanisms/notch-signaling-pathway)
• [APP Processing](/mechanisms/app-processing)
• [Neurogenesis](/mechanisms/neurogenesis)
• [Neuroinflammation](/mechanisms/neuroinflammation)

See Also

• [Genes Index](/genes)
• [Proteins Index](/proteins)
• [Mechanisms Index](/mechanisms)

External Links

• [NCBI Gene](https://www.ncbi.nlm.nih.gov/gene/) UniProt

Background

The study of Notch1 Gene 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.

References

Pathway Diagram

Pathway Diagram

The following diagram shows the key molecular relationships involving NOTCH1 Gene discovered through SciDEX knowledge graph analysis: