ADGRA1 (Adhesion G Protein-Coupled Receptor A1)
Also known as GPR123, a member of the adhesion GPCR family involved in cell adhesion and signaling.
Gene Information Card
| Symbol | ADGRA1 |
|---|---|
| Full Name | Adhesion G Protein-Coupled Receptor A1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q26.13 |
| NCBI Gene ID | 84433 ncbi.nlm.nih.gov/gene/84433 |
| Ensembl ID | ENSG00000120071 |
| UniProt ID | Q96PE1 |
| OMIM ID | 612303 |
| HGNC ID | 19094 |
| Aliases | GPR123, KIAA1828, PGR15 |
Description
ADGRA1 (Adhesion G Protein-Coupled Receptor A1) is a member of the adhesion GPCR family. It encodes a protein with a long N-terminal extracellular domain containing adhesion-like motifs, a seven-transmembrane domain, and a cytoplasmic tail. The gene is involved in cell-cell and cell-matrix interactions, and may play roles in neuronal development and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association confirmed | Unknown | No direct evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.2 | Low |
| Adrenal gland | 6.1 | Low |
| Thyroid | 5.0 | Low |
| Lung | 3.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.3 | Neuroblastoma cell line |
| HEK293 | 2.1 | Low expression |
| HeLa | 1.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | missense | 0.001% (gnomAD) | Unknown functional effect |
| c.567delA (p.Glu189fs) | frameshift | 0.0005% (gnomAD) | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Glu189fs) likely cause loss of function due to premature truncation.
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 | • cell adhesion |
| • plasma membrane | • signal transduction |
| • integral component of membrane |
Pathways
• GPCR signaling
• Adhesion GPCR pathway
Protein Summary
ADGRA1 encodes a 1,322-amino acid adhesion GPCR with a large extracellular region containing a GPS (GPCR proteolysis site) domain, a seven-transmembrane domain, and a cytoplasmic tail. The protein undergoes autoproteolytic cleavage at the GPS motif, producing an N-terminal fragment and a C-terminal fragment that remain non-covalently associated. It is expressed primarily in brain and testis, and may modulate neuronal migration and synaptic function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADGRA1 Knockout HEK293 Cell Line | EDJ-KQ10082 | Human | 84435 | Details Get a Quote |
| ADGRA1 Knockout HeLa Cell Line | EDJ-KQ57593 | Human | 84435 | Details Get a Quote |
| ADGRA1 Knockout A-549 Cell Line | EDJ-KQ66089 | Human | 84435 | Details Get a Quote |
| ADGRA1 Knockout HCT 116 Cell Line | EDJ-KQ74512 | Human | 84435 | Details Get a Quote |
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