BST1 Gene (Bone Marrow Stromal Cell Antigen 1)
CD157, a GPI-anchored ADP-ribosyl cyclase involved in immune regulation and Parkinson's disease susceptibility
Gene Information Card
| Symbol | BST1 |
|---|---|
| Full Name | Bone Marrow Stromal Cell Antigen 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 4p15.32 |
| NCBI Gene ID | 684 ncbi.nlm.nih.gov/gene/684 |
| Ensembl ID | ENSG00000109743 |
| UniProt ID | Q10588 |
| OMIM ID | 600387 |
| HGNC ID | 1118 |
| Aliases | CD157, BP-3, BST-1 |
Description
BST1 (Bone Marrow Stromal Cell Antigen 1), also known as CD157, encodes a glycosylphosphatidylinositol (GPI)-anchored cell surface protein with ADP-ribosyl cyclase activity. It catalyzes the conversion of NAD+ to cyclic ADP-ribose (cADPR), a calcium-mobilizing second messenger. BST1 is expressed on bone marrow stromal cells, lymphocytes, and in the brain. It plays roles in pre-B cell growth, immune cell adhesion, and NAD+ metabolism. Genetic variants in BST1 are associated with susceptibility to Parkinson's disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Parkinson's disease | Risk variants (e.g., rs11724635) in intronic regions may alter BST1 expression or splicing, affecting NAD+ metabolism and neuronal survival. | GWAS studies (PMID: 19915575, 19915576); ClinVar |
| Breast cancer | BST1 overexpression in tumor stroma may promote cancer cell proliferation via cADPR-mediated calcium signaling. | COSMIC; PMID: 21804537 |
| Rheumatoid arthritis | BST1/CD157 is upregulated in synovial fibroblasts and may contribute to inflammatory joint destruction. | PMID: 10581026 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lung | 8.3 | Low |
| Spleen | 7.1 | Low |
| Brain (cerebellum) | 5.2 | Low |
| Small intestine | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.2 | Myeloid lineage expression |
| HEK 293 (embryonic kidney) | 2.1 | Low endogenous expression |
| SH-SY5Y (neuroblastoma) | 1.8 | Neuronal model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs11724635 | SNV (intronic) | 0.35 (East Asian) | Risk allele for Parkinson's disease |
| rs4698412 | SNV (intronic) | 0.42 (European) | Risk allele for Parkinson's disease |
| c.1A>G (p.Met1?) | missense | Rare | Potential loss of start codon; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC for BST1.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NAD+ metabolism and cADPR signaling (Reactome: R-HSA-196807)
• Calcium signaling pathway (KEGG: hsa04020)
Protein Summary
BST1 (CD157) is a 318-amino acid GPI-anchored glycoprotein with ADP-ribosyl cyclase activity. It converts NAD+ to cyclic ADP-ribose (cADPR), a potent calcium-mobilizing second messenger. The protein is expressed on bone marrow stromal cells, granulocytes, monocytes, and subsets of lymphocytes. It facilitates pre-B cell growth and modulates immune cell adhesion and migration. In the brain, BST1 is expressed in microglia and neurons, and its dysregulation is linked to Parkinson's disease risk. The protein structure includes a conserved catalytic domain shared with CD38.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BST1 Knockout HEK293 Cell Line | EDJ-KQ4149 | Human | 683 | Details Get a Quote |
| BST1 Knockout A-549 Cell Line | EDJ-KQ25250 | Human | 683 | Details Get a Quote |
| BST1 Knockout HeLa Cell Line | EDJ-KQ52734 | Human | 683 | Details Get a Quote |
| BST1 Knockout HCT 116 Cell Line | EDJ-KQ69699 | Human | 683 | Details Get a Quote |
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