ADGRB1
Adhesion G Protein-Coupled Receptor B1
Gene Information Card
| Symbol | ADGRB1 |
|---|---|
| Full Name | Adhesion G Protein-Coupled Receptor B1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q24.3 |
| NCBI Gene ID | 575 ncbi.nlm.nih.gov/gene/575 |
| Ensembl ID | ENSG00000121769 |
| UniProt ID | O14514 |
| OMIM ID | 602682 |
| HGNC ID | 943 |
| Aliases | BAI1, GPR123 |
Description
ADGRB1 (Adhesion G Protein-Coupled Receptor B1), also known as BAI1 (brain-specific angiogenesis inhibitor 1), is a member of the adhesion GPCR family. It is predominantly expressed in the brain and functions as a receptor for phosphatidylserine on apoptotic cells, mediating phagocytosis. ADGRB1 inhibits angiogenesis and promotes synaptic development and plasticity. It acts as a tumor suppressor in glioblastoma and other cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glioblastoma | Loss of ADGRB1 expression promotes tumor angiogenesis and invasion; reduced expression correlates with poor prognosis. | PMID: 10655551, PMID: 15601830 |
| Colorectal cancer | ADGRB1 hypermethylation leads to silencing, contributing to tumor progression. | PMID: 21145471 |
| Alzheimer's disease | ADGRB1 mediates clearance of apoptotic cells and amyloid-beta; altered expression linked to neuroinflammation. | PMID: 27052163 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 1.2 | Low |
| Heart | 0.8 | Low |
| Lung | 0.5 | Not detected |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.0 | Neuroblastoma cell line |
| U87MG | 2.1 | Glioblastoma cell line |
| HEK293 | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncation of extracellular domain |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Loss of function; premature stop codon |
| c.2345_2346del (p.Leu782fs) | Frameshift | <0.1% | Loss of function; disrupted transmembrane domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in ADGRB1 lead to truncated or non-functional protein, impairing angiogenesis inhibition and phagocytosis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • phosphatidylserine binding |
| • angiogenesis | • phagocytosis |
| • synaptic signaling | • cell adhesion |
Pathways
• Adhesion GPCR signaling
• Phagocytosis of apoptotic cells
• Angiogenesis inhibition
Protein Summary
ADGRB1 is a 1584-amino acid adhesion GPCR with a large N-terminal extracellular domain containing thrombospondin type 1 repeats and a GPS (G protein-coupled receptor proteolysis site) domain. It undergoes autoproteolytic cleavage at the GPS motif. The extracellular region binds phosphatidylserine, mediating recognition of apoptotic cells. The intracellular C-terminus interacts with signaling molecules to regulate cytoskeletal dynamics and gene expression. ADGRB1 is a key regulator of brain angiogenesis and synaptic function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADGRB1 Knockout HEK293 Cell Line | EDJ-KQ4120 | Human | 575 | Details Get a Quote |
| ADGRB1 Knockout HeLa Cell Line | EDJ-KQ52706 | Human | 575 | Details Get a Quote |
| ADGRB1 Knockout A-549 Cell Line | EDJ-KQ61176 | Human | 575 | Details Get a Quote |
| ADGRB1 Knockout HCT 116 Cell Line | EDJ-KQ69665 | Human | 575 | Details Get a Quote |
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