DEPDC5 Gene

DEPDC5 Gene

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">DEPDC5 Gene</th>
</tr>
<tr>
<td class="label">Symbol</td>
<td>DEPDC5</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>DEP Domain Containing 5</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>22q12.2</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>9169</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000048991</td>
</tr>
<tr>
<td class="label">UniProt</td>
<td>O75157</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/als" style="color:#ef9a9a">ALS</a>, <a href="/wiki/als" style="color:#ef9a9a">Als</a>, <a href="/wiki/breast-cancer" style="color:#ef9a9a">Breast Cancer</a>, <a href="/wiki/cancer" style="color:#ef9a9a">Cancer</a>, <a href="/wiki/epilepsy" style="color:#ef9a9a">Epilepsy</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">34 edges</a></td>
</tr>
</table>

Introduction

Depdc5 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

...

DEPDC5 Gene

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">DEPDC5 Gene</th>
</tr>
<tr>
<td class="label">Symbol</td>
<td>DEPDC5</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>DEP Domain Containing 5</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>22q12.2</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>9169</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000048991</td>
</tr>
<tr>
<td class="label">UniProt</td>
<td>O75157</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/als" style="color:#ef9a9a">ALS</a>, <a href="/wiki/als" style="color:#ef9a9a">Als</a>, <a href="/wiki/breast-cancer" style="color:#ef9a9a">Breast Cancer</a>, <a href="/wiki/cancer" style="color:#ef9a9a">Cancer</a>, <a href="/wiki/epilepsy" style="color:#ef9a9a">Epilepsy</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">34 edges</a></td>
</tr>
</table>

Introduction

Depdc5 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

The DEPDC5 gene (DEP Domain Containing 5) encodes a member of the DEP (Disheveled, Egl-10, Pleckstrin) domain-containing protein family. DEPDC5 is a component of the GATOR1 complex, a critical regulator of amino acid sensing and mTORC1 signaling. Mutations in DEPDC5 cause autosomal dominant focal epilepsy and are implicated in various neurodegenerative processes. [@gator]

Gene Information

Protein Structure

DEPDC5 is a 1623-amino acid protein with:

• DEP domain at N-terminus (mediates protein interactions)
• Central region with unknown function
• Multiple phosphorylation sites

Molecular Function

DEPDC5 functions as a key regulator of mTORC1 signaling:

GATOR1 Complex Subunit: Forms part of the GATOR1 complex that inhibits mTORC1

Amino Acid Sensing: Integrates amino acid availability signals

[Autophagy](/entities/autophagy) Regulation: Controls autophagy induction via mTORC1 inhibition

Cell Growth Control: Negatively regulates cell proliferation and growth

Expression Pattern

DEPDC5 is ubiquitously expressed with highest levels in:

• Brain
• Heart
• Skeletal muscle
• Kidney

In the brain:

• Cerebral [cortex](/brain-regions/cortex)
• [Hippocampus](/brain-regions/hippocampus)
• Cerebellum
• Hypothalamus

Disease Associations

Focal Epilepsy

• Autosomal dominant focal epilepsy (ADFE)
• Mutations cause familial epilepsy without brain malformations
• Incomplete penetrance
• PMID: 23471845(https://pubmed.ncbi.nlm.nih.gov/23471845/), PMID: 23695510(https://pubmed.ncbi.nlm.nih.gov/23695510/)

Autism Spectrum Disorder

• DEPDC5 mutations in ASD patients
• Intellectual disability comorbidity
• Abnormal brain development
• PMID: 25807345(https://pubmed.ncbi.nlm.nih.gov/25807345/), PMID: 26339610(https://pubmed.ncbi.nlm.nih.gov/26339610/)

Alzheimer's Disease

• [mTOR](/entities/mtor) hyperactivation in AD brains
• Impaired autophagy leads to protein aggregation
• Therapeutic target for [mTOR](/mechanisms/mtor-signaling-pathway) inhibitors
• PMID: 25396082(https://pubmed.ncbi.nlm.nih.gov/25396082/), PMID: 26255403(https://pubmed.ncbi.nlm.nih.gov/26255403/)

Parkinson's Disease

• Dysregulated mTOR signaling in PD
• Autophagy impairment affects [alpha-synuclein](/mechanisms/alpha-synuclein) clearance
• Potential modifier of [LRRK2](/entities/lrrk2) pathology
• PMID: 26925799(https://pubmed.ncbi.nlm.nih.gov/26925799/), PMID: 28749530(https://pubmed.ncbi.nlm.nih.gov/28749530/)

Cancer

• Tumor suppressor function
• Loss-of-function mutations in cancers
• Renal cell carcinoma, hepatocellular carcinoma

Therapeutic Implications

• mTOR Inhibitors: Rapamycin, everolimus for epilepsy
• Autophagy Inducers: Enhance protein clearance
• Ketogenic Diet: May bypass mTOR dysregulation
• Gene Therapy: Nonsense suppression approaches

Animal Models

• Depdc5 knockout mice: Neonatal lethality
• Conditional knockouts: Cortical dysplasia, epilepsy
• Zebrafish: Developmental defects

Background

The study of Depdc5 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.

See Also

• mTOR Pathway - mTOR signaling
• Autophagy-Lysosomal Pathway - Autophagy regulation
• Epilepsy - Primary disease association
• [Alzheimer's Disease](/diseases/alzheimers- [Parkinson's Disease](/diseases/parkinsons-disease)iation
• [Parkinson's Disease](/diseases/parkinsons-disease) Disease association
• Autism Spectrum Disorder - Disease association
• GATOR Complex - Amino acid sensing
• RHEB - mTORC1 activator

External Links

• [NCBI Gene DEPDC5](https://www.ncbi.nlm.nih.gov/gene/9169)
• [UniProt O75157](https://www.uniprot.org/uniprotkb/O75157)
• [HGNC DEPDC5](https://www.genenames.org/data/hgnc_data.php?hgnc_id=18798)
• [Ensembl DEPDC5](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000048991)

References

[Unknown, - DEPDC5 mutations cause focal epilepsy (n.d.)](https://pubmed.ncbi.nlm.nih.gov/23471845/)

[Unknown, - GATOR1 complex function (n.d.)](https://pubmed.ncbi.nlm.nih.gov/23695510/)

[Unknown, - DEPDC5 in autism (n.d.)](https://pubmed.ncbi.nlm.nih.gov/25807345/)

[Unknown, - Brain development (n.d.)](https://pubmed.ncbi.nlm.nih.gov/26339610/)

[Unknown, - mTOR in AD (n.d.)](https://pubmed.ncbi.nlm.nih.gov/25396082/)

[Unknown, - Autophagy in AD (n.d.)](https://pubmed.ncbi.nlm.nih.gov/26255403/)

[Unknown, - Autophagy in PD (n.d.)](https://pubmed.ncbi.nlm.nih.gov/26925799/)

[Unknown, - mTOR and neurodegeneration (n.d.)](https://pubmed.ncbi.nlm.nih.gov/28749530/)

Pathway Diagram

The following diagram shows the key molecular relationships involving DEPDC5 Gene discovered through SciDEX knowledge graph analysis: