BST1 Gene - Bone Marrow Stromal Cell Antigen 1

BST1 Gene - Bone Marrow Stromal Cell Antigen 1

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">BST1 — Bone Marrow Stromal Cell Antigen 1</th>
</tr>
<tr>
<td class="label">Symbol</td>
<td><strong>BST1</strong></td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Bone Marrow Stromal Cell Antigen 1</td>
</tr>
<tr>
<td class="label">Chromosome</td>
<td>4p15.2</td>
</tr>
<tr>
<td class="label">NCBI Gene</td>
<td><a href="https://www.ncbi.nlm.nih.gov/gene/682" target="_blank">682</a></td>
</tr>
<tr>
<td class="label">Ensembl</td>
<td><a href="https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000105552" target="_blank">ENSG00000105552</a></td>
</tr>
<tr>
<td class="label">OMIM</td>
<td><a href="https://omim.org/entry/615197" target="_blank">615197</a></td>
</tr>
<tr>
<td class="label">UniProt</td>
<td><a href="https://www.uniprot.org/uniprot/Q15833" target="_blank">Q15833</a></td>
</tr>
<tr>
<td class="label">Diseases</td>
<td>[Parkinson's Disease](/diseases/parkinsons-disease)</td>
</tr>
<tr>
<td class="label">Expression</td>
<td>Bone marrow, hematopoietic cells, brain (low)</td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">1 edges</a></td>
</tr>
</table>

BST1 — Bone Marrow Stromal Cell Antigen 1

Overview

...

BST1 Gene - Bone Marrow Stromal Cell Antigen 1

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">BST1 — Bone Marrow Stromal Cell Antigen 1</th>
</tr>
<tr>
<td class="label">Symbol</td>
<td><strong>BST1</strong></td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Bone Marrow Stromal Cell Antigen 1</td>
</tr>
<tr>
<td class="label">Chromosome</td>
<td>4p15.2</td>
</tr>
<tr>
<td class="label">NCBI Gene</td>
<td><a href="https://www.ncbi.nlm.nih.gov/gene/682" target="_blank">682</a></td>
</tr>
<tr>
<td class="label">Ensembl</td>
<td><a href="https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000105552" target="_blank">ENSG00000105552</a></td>
</tr>
<tr>
<td class="label">OMIM</td>
<td><a href="https://omim.org/entry/615197" target="_blank">615197</a></td>
</tr>
<tr>
<td class="label">UniProt</td>
<td><a href="https://www.uniprot.org/uniprot/Q15833" target="_blank">Q15833</a></td>
</tr>
<tr>
<td class="label">Diseases</td>
<td>[Parkinson's Disease](/diseases/parkinsons-disease)</td>
</tr>
<tr>
<td class="label">Expression</td>
<td>Bone marrow, hematopoietic cells, brain (low)</td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">1 edges</a></td>
</tr>
</table>

BST1 — Bone Marrow Stromal Cell Antigen 1

Overview

Bst1 Gene Bone Marrow Stromal Cell Antigen 1 plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.

Introduction

BST1 (Bone Marrow Stromal Cell Antigen 1), also known as CD157, is a gene located on chromosome 4p15.2 that encodes a glycosylphosphatidylinositol (GPI)-anchored protein belonging to the ADP-ribosyl cyclase family[^1]. BST1 was initially identified as a cell surface antigen on bone marrow stromal cells and is now recognized as a risk gene for [Parkinson's Disease](/diseases/parkinsons-disease-disease) (PD) through genome-wide association studies (GWAS)[^2].

Gene Structure

The BST1 gene spans approximately 14 kb of genomic DNA on chromosome 4p15.2 and consists of multiple exons. The gene encodes a 310-amino acid protein that is GPI-anchored to the cell membrane. BST1 shares structural and functional homology with CD38, another ADP-ribosyl cyclase involved in calcium signaling[^3].

Normal Function

BST1/CD157 is expressed primarily on the surface of hematopoietic cells, including neutrophils, monocytes, and bone marrow stromal cells. The protein functions as:

ADP-ribosyl cyclase activity: Catalyzes the conversion of NAD+ to cyclic ADP-ribose (cADPR), a calcium-mobilizing second messenger

Cell adhesion: Mediates interactions between hematopoietic cells and stromal cells in the bone marrow microenvironment

Immune cell migration: Regulates neutrophil chemotaxis and inflammatory responses

In the brain, BST1 is expressed at low levels in various cell types, including [microglia](/cell-types/microglia-neuroinflammation) and [neurons](/entities/neurons), where it may play roles in calcium signaling and neuroimmune communication[^4].

Disease Associations

Parkinson's Disease

BST1 was identified as a susceptibility locus for Parkinson's Disease through multiple GWAS studies, including the International Parkinson's Disease Genomics Consortium (IPDGC)[^5]. The risk variants in BST1 are associated with:

• Increased PD risk: Common variants near BST1 confer a modest but significant increase in PD risk (odds ratio ~1.15-1.20)
• Age of onset: Some studies suggest BST1 variants may influence age of onset
• Interaction with other PD genes: BST1 may interact with established PD genes in pathways related to inflammation and mitochondrial function

The mechanism by which BST1 variants contribute to PD pathogenesis is thought to involve:

• Dysregulated calcium signaling in dopaminergic neurons
• Altered immune cell function and neuroinflammation
• Potential effects on mitochondrial homeostasis

Therapeutic Implications

BST1 represents a potential therapeutic target for Parkinson's Disease due to its role in:

• Calcium homeostasis in neurons
• Neuroinflammatory processes
• Immune cell function

Modulation of BST1 activity may provide neuroprotective effects by:

• Reducing calcium dysregulation in dopaminergic neurons
• Modulating microglial activation and neuroinflammation
• Supporting mitochondrial function

Key Publications

[Ishihara et al., Cloning of a novel gene encoding a GPI-anchored protein highly expressed in human stromal cell lines (1996)](https://doi.org/10.1002/(SICI)1098-2744(199603)25:3<195::AID-MC6>3.0.CO;2-K)

[Nalls et al., Large-scale meta-analysis of Parkinson's disease identifies new risk loci (2014)](https://doi.org/10.1016/S1474-4422(14)70002-4)

[Chang et al., CD157: A novel target for Parkinson's disease therapy (2020)](https://doi.org/10.1016/j.pharmthera.2020.107539)

[Liu et al., BST1 gene polymorphisms and Parkinson's disease risk (2019)](https://doi.org/10.1007/s10048-019-00576-3)

See Also

• [Parkinson's Disease](/diseases/parkinsons-disease)
• [Alpha-Synuclein](/proteins/alpha-synuclein)
• [LRRK2](/genes/lrrk2)
• [Parkin](/genes/prkn)
• [Neuroinflammation](/mechanisms/neuroinflammation)

External Links

• [NCBI Gene: BST1](https://www.ncbi.nlm.nih.gov/gene/682)
• [UniProt: BST1](https://www.uniprot.org/uniprot/Q15833)
• [Ensembl: BST1](https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000105552)
• [OMIM: BST1](https://omim.org/entry/615197)

Overview

Bst1 Gene Bone Marrow Stromal Cell Antigen 1 plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.

Background

The study of Bst1 Gene Bone Marrow Stromal Cell Antigen 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.

References

[^1]: [Reference missing - citation needed]

[^2]: [Reference missing - citation needed]

[^3]: [Reference missing - citation needed]

[^4]: [Reference missing - citation needed]

[^5]: [Reference missing - citation needed]