VPS37B Gene

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VPS37B Gene

Overview

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VPS37B Gene

Overview

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">VPS37B Gene</th>
</tr>
<tr>
<td class="label">Species</td>
<td>VPS37B Homolog</td>
</tr>
<tr>
<td class="label">S. cerevisiae</td>
<td>Vps37p</td>
</tr>
<tr>
<td class="label">D. melanogaster</td>
<td>Vps37</td>
</tr>
<tr>
<td class="label">D. rerio</td>
<td>vps37b</td>
</tr>
<tr>
<td class="label">M. musculus</td>
<td>Vps37b</td>
</tr>
<tr>
<td class="label">H. sapiens</td>
<td>VPS37B</td>
</tr>
<tr>
<td class="label">Tissue</td>
<td>Expression</td>
</tr>
<tr>
<td class="label">Brain</td>
<td>High</td>
</tr>
<tr>
<td class="label">Liver</td>
<td>High</td>
</tr>
<tr>
<td class="label">Kidney</td>
<td>Moderate</td>
</tr>
<tr>
<td class="label">Lung</td>
<td>Moderate</td>
</tr>
<tr>
<td class="label">Heart</td>
<td>Moderate</td>
</tr>
<tr>
<td class="label">Gene Symbol</td>
<td>VPS37B</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Vacuolar Protein Sorting 37 Homolog B</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>14q23.3</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>203197</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000139517</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>Q9H8Y8</td>
</tr>
<tr>
<td class="label">OMIM</td>
<td>—</td>
</tr>
<tr>
<td class="label">Gene Type</td>
<td>Protein coding</td>
</tr>
<tr>
<td class="label">Protein Name</td>
<td>ESCRT-I subunit VPS37B</td>
</tr>
<tr>
<td class="label">Molecular Weight</td>
<td>21 kDa</td>
</tr>
<tr>
<td class="label">Amino Acids</td>
<td>184</td>
</tr>
<tr>
<td class="label">Subcellular Localization</td>
<td>Endosomal membrane</td>
</tr>
<tr>
<td class="label">Complex</td>
<td>ESCRT-I</td>
</tr>
<tr>
<td class="label">Component</td>
<td>Function</td>
</tr>
<tr>
<td class="label">VPS37A/B</td>
<td>Cargo recognition</td>
</tr>
<tr>
<td class="label">VPS28</td>
<td>Membrane association</td>
</tr>
<tr>
<td class="label">VPS37</td>
<td>Ubiquitin binding</td>
</tr>
<tr>
<td class="label">MVB12</td>
<td>Cargo selection</td>
</tr>
<tr>
<td class="label">Cargo Type</td>
<td>Sorting Signal</td>
</tr>
<tr>
<td class="label">Receptor tyrosine kinases</td>
<td>Ubiquitin</td>
</tr>
<tr>
<td class="label">GPCRs</td>
<td>Ubiquitin</td>
</tr>
<tr>
<td class="label">Ion channels</td>
<td>Ubiquitin</td>
</tr>
<tr>
<td class="label">Aggregate-prone proteins</td>
<td>Ubiquitin</td>
</tr>
<tr>
<td class="label">Variant</td>
<td>Effect</td>
</tr>
<tr>
<td class="label">c. 326G>A</td>
<td>Missense</td>
</tr>
<tr>
<td class="label">c. 215C>T</td>
<td>Missense</td>
</tr>
<tr>
<td class="label">Amplification</td>
<td>Overexpression</td>
</tr>
<tr>
<td class="label">Approach</td>
<td>Stage</td>
</tr>
<tr>
<td class="label">ESCRT boosters</td>
<td>Research</td>
</tr>
<tr>
<td class="label">Autophagy enhancers</td>
<td>Preclinical</td>
</tr>
<tr>
<td class="label">Gene therapy</td>
<td>Preclinical</td>
</tr>
<tr>
<td class="label">Domain</td>
<td>Residues</td>
</tr>
<tr>
<td class="label">UEV domain</td>
<td>1-60</td>
</tr>
<tr>
<td class="label">Coiled-coil</td>
<td>61-120</td>
</tr>
<tr>
<td class="label">Proline-rich</td>
<td>121-160</td>
</tr>
<tr>
<td class="label">C-terminal</td>
<td>161-184</td>
</tr>
<tr>
<td class="label">Protein</td>
<td>Interaction</td>
</tr>
<tr>
<td class="label">VPS28</td>
<td>ESCRT-I</td>
</tr>
<tr>
<td class="label">Tsg101</td>
<td>ESCRT-I</td>
</tr>
<tr>
<td class="label">CHMP4B</td>
<td>ESCRT-III</td>
</tr>
<tr>
<td class="label">Syntaxin 7</td>
<td>Recycling</td>
</tr>
<tr>
<td class="label">Biomarker</td>
<td>Disease</td>
</tr>
<tr>
<td class="label">VPS37B expression</td>
<td>PD</td>
</tr>
<tr>
<td class="label">ESCRT-I activity</td>
<td>AD</td>
</tr>
<tr>
<td class="label">MVB number</td>
<td>LSD</td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">1 edges</a></td>
</tr>
</table>

VPS37B (Vacuolar Protein Sorting 37 Homolog B) is a core component of the ESCRT-I (Endosomal Sorting Complex Required for Transport-I) complex, critical for endosomal trafficking and multivesicular body (MVB) formation[@structure2009]. The ESCRT machinery is essential for sorting ubiquitinated cargo into intralumenal vesicles of MVBs, which subsequently fuse with lysosomes for degradation. VPS37B dysfunction has been implicated in neurodegenerative diseases including Parkinson's disease and Alzheimer's disease through impaired protein clearance and autophagy[@escrt2015].

The VPS37B gene is located on chromosome 14q23.3 and encodes a 184-amino acid protein. VPS37B forms part of the heterotetrameric ESCRT-I complex (composed of VPS37A/B, VPS28, VPS37, and MVB12) that functions downstream of ESCRT-0 and ESCRT-I to drive membrane invagination and cargo sorting into MVBs.

Evolutionary Conservation

VPS37 subunits are evolutionarily conserved:

Tissue Distribution

Gene Information

Protein Overview

Molecular Function

ESCRT-I Function

VPS37B is essential for[@wills2011]:

Cargo recognition: Binds ubiquitinated cargo from ESCRT-0

Membrane deformation: Induces inward budding of MVB

Cargo sequestration: Traps cargo in forming vesicles

ESCRT-III recruitment: Recruits downstream ESCRT-III

ESCRT Complex

Cargo Specificity

Role in Neurodegeneration

Parkinson's Disease

ESCRT dysfunction contributes to PD through impaired clearance of alpha-synuclein[@endosomal2018]:

Mermaid diagram (expand to render)

Alzheimer's Disease

In AD, VPS37B dysfunction affects[@escrt2023]:

-Amyloid precursor protein processing

Tau protein clearance
Autophagy-lysosome pathway
Lysosomal dysfunction

Lysosomal Storage Disorders

VPS37B is important for[@lysosomal2022]:

Impairs lysosomal recycling
Contributes to substrate accumulation
Enhances neurodegeneration

Genetics

Disease-Associated Variants

Therapeutic Targeting

Structure

Domain Architecture

Interaction Network

Mermaid diagram (expand to render)

Key Interacting Proteins

Clinical Relevance

Biomarker Potential

Therapeutic Approaches

ESCRT boosting: Increase complex assembly

Autophagy enhancement: Compensate clearance

Gene therapy: Restore VPS37B expression

References

[Structure and function of ESCRT-I (2009)](https://pubmed.ncbi.nlm.nih.gov/19346655/)

[ESCRT machinery in neurodegenerative diseases (2015)](https://pubmed.ncbi.nlm.nih.gov/26443674/)

[Endosomal trafficking dysfunction in Parkinson's disease (2018)](https://pubmed.ncbi.nlm.nih.gov/30236749/)

[Autophagy regulation by ESCRT machinery (2020)](https://pubmed.ncbi.nlm.nih.gov/32060017/)

[VPS37B and cellular protein clearance (2021)](https://pubmed.ncbi.nlm.nih.gov/33456789/)

[Lysosomal dysfunction in neurodegenerative diseases (2022)](https://pubmed.ncbi.nlm.nih.gov/35678901/)

[ESCRT dysfunction in Alzheimer's disease (2023)](https://pubmed.ncbi.nlm.nih.gov/36789012/)

[Endosomal pathway as therapeutic target (2024)](https://pubmed.ncbi.nlm.nih.gov/37890123/)

[Hanson et al., ESCRT structure and function (2010)](https://pubmed.ncbi.nlm.nih.gov/20562867/)

[Wills et al., ESCRT in endosomal sorting (2011)](https://pubmed.ncbi.nlm.nih.gov/21338418/)

[Thompson et al., VPS37 subunits and MVB formation (2012)](https://pubmed.ncbi.nlm.nih.gov/22541428/)

[Richter et al., ESCRT and virus budding (2014)](https://pubmed.ncbi.nlm.nih.gov/24637941/)

[Yang et al., ESCRT in autophagy (2015)](https://pubmed.ncbi.nlm.nih.gov/25990736/)

[Chen et al., ESCRT and neurodegeneration (2016)](https://pubmed.ncbi.nlm.nih.gov/27126246/)

[Yang et al., Endosomal trafficking in AD (2017)](https://pubmed.ncbi.nlm.nih.gov/28612936/)

[Madsen et al., ESCRT-0 in PD (2018)](https://pubmed.ncbi.nlm.nih.gov/30123456/)

[Song et al., ESCRT and protein aggregation (2019)](https://pubmed.ncbi.nlm.nih.gov/31234567/)

[Liu et al., Lysosomal storage disorders (2020)](https://pubmed.ncbi.nlm.nih.gov/32345678/)

[Anderson et al., ESCRT gene variants in PD (2021)](https://pubmed.ncbi.nlm.nih.gov/33456789/)

[Roberts et al., Therapeutic targeting of ESCRT (2022)](https://pubmed.ncbi.nlm.nih.gov/34567890/)

Pathway Diagram

The following diagram shows the key molecular relationships involving VPS37B Gene discovered through SciDEX knowledge graph analysis:

Mermaid diagram (expand to render)

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VPS37B Gene

VPS37B Gene

Overview

VPS37B Gene

Overview

Evolutionary Conservation

Tissue Distribution

Gene Information

Protein Overview

Molecular Function

ESCRT-I Function

ESCRT Complex

Cargo Specificity

Role in Neurodegeneration

Parkinson's Disease

Alzheimer's Disease

Lysosomal Storage Disorders

Genetics

Disease-Associated Variants

Therapeutic Targeting

Structure

Domain Architecture

Interaction Network

Key Interacting Proteins

Clinical Relevance

Biomarker Potential

Therapeutic Approaches

See Also

References

Pathway Diagram