ADORA1: Adenosine A1 Receptor
Key regulator of cardiac and neuronal adenosine signaling
Gene Information Card
| Symbol | ADORA1 |
|---|---|
| Full Name | Adenosine A1 Receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 134 ncbi.nlm.nih.gov/gene/134 |
| Ensembl ID | ENSG00000163485 |
| UniProt ID | P30542 |
| OMIM ID | 102775 |
| HGNC ID | 278 |
| Aliases | RDC7, A1AR |
Description
ADORA1 encodes the adenosine A1 receptor, a G protein-coupled receptor that binds adenosine and mediates inhibitory effects on adenylyl cyclase. It plays a critical role in cardiac protection, neuroprotection, and regulation of sleep and pain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiac ischemia | Receptor activation reduces heart rate and oxygen demand; protective in ischemic preconditioning | PMID: 11500316 |
| Epilepsy | A1 receptor activation suppresses neuronal excitability; reduced function may increase seizure susceptibility | PMID: 15657137 |
| Chronic pain | A1 receptor agonists produce antinociception; altered expression linked to pain states | PMID: 19136968 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Heart | 8.3 | Medium |
| Lung | 3.1 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 10.2 | Neuronal cell line |
| HEK293 | 4.5 | Low endogenous expression |
| H9c2 | 7.8 | Cardiomyoblast line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.716C>T (p.Pro239Leu) | Missense | <0.01% | Reduced ligand binding affinity |
| c.1045G>A (p.Gly349Ser) | Missense | <0.01% | Impaired G protein coupling |
Mutation functional classification
Loss of Function (LOF)
p.Pro239Leu and p.Gly349Ser reduce receptor signaling.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not described for ADORA1.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • adenosine receptor activity |
| • adenylate cyclase inhibiting G protein-coupled receptor signaling pathway | • negative regulation of cAMP-mediated signaling |
| • synaptic transmission | • cholinergic |
Pathways
• Adenosine signaling pathway
• GPCR downstream signaling
• cAMP signaling pathway
Protein Summary
The adenosine A1 receptor is a 326-amino acid transmembrane protein with seven alpha-helical domains. It couples primarily to Gi/o proteins, inhibiting adenylyl cyclase and reducing cAMP levels. It is widely expressed in brain, heart, and adipose tissue, mediating sedative, anticonvulsant, and cardioprotective effects.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADORA1 Knockout HEK293 Cell Line | EDJ-KQ1750 | Human | 134 | Details Get a Quote |
| ADORA1 Knockout A-549 Cell Line | EDJ-KQ21620 | Human | 134 | Details Get a Quote |
| ADORA1 Knockout HCT 116 Cell Line | EDJ-KQ21621 | Human | 134 | Details Get a Quote |
| ADORA1 Knockout HeLa Cell Line | EDJ-KQ52562 | Human | 134 | Details Get a Quote |
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