| BST1 — Bone Marrow Stromal Cell Antigen 1 | |
|---|---|
| Symbol | BST1 |
| Full Name | Bone Marrow Stromal Cell Antigen 1 |
| Chromosome | 4p15.2 |
| NCBI Gene | 682 |
| Ensembl | ENSG00000105552 |
| OMIM | 615197 |
| UniProt | Q15833 |
| Diseases | Parkinson's Disease |
| Expression | Bone marrow, hematopoietic cells, brain (low) |
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 (PD) through genome-wide association studies (GWAS)[2].
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].
BST1/CD157 is expressed primarily on the surface of hematopoietic cells, including neutrophils, monocytes, and bone marrow stromal cells. The protein functions as:
In the brain, BST1 is expressed at low levels in various cell types, including microglia and neurons, where it may play roles in calcium signaling and neuroimmune communication[4].
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:
The mechanism by which BST1 variants contribute to PD pathogenesis is thought to involve:
BST1 represents a potential therapeutic target for Parkinson's Disease due to its role in:
Modulation of BST1 activity may provide neuroprotective effects by: