ADRB1 Gene: Beta-1 Adrenergic Receptor - Function, Disease, and Mutations
Comprehensive biomedical resource on ADRB1, covering gene structure, expression, clinical significance, and variants.
Gene Information Card
| Symbol | ADRB1 |
|---|---|
| Full Name | Adrenoceptor Beta 1 |
| Gene Type | protein coding |
| Chromosomal Location | 10q25.3 |
| NCBI Gene ID | 153 ncbi.nlm.nih.gov/gene/153 |
| Ensembl ID | ENSG00000043591 |
| UniProt ID | P08588 |
| OMIM ID | 109690 |
| HGNC ID | 285 |
| Aliases | BETA1AR, RHR |
Description
The ADRB1 gene encodes the beta-1 adrenergic receptor, a G protein-coupled receptor (GPCR) that is a major mediator of catecholamine (epinephrine and norepinephrine) signaling. It is predominantly expressed in cardiac tissue, where it regulates heart rate, contractility, and conduction. ADRB1 is a primary target for beta-blockers used in cardiovascular diseases. Genetic variants in ADRB1 influence receptor function and drug response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Heart Failure | ADRB1 polymorphisms (e.g., Arg389Gly) alter receptor signaling, affecting cardiac function and response to beta-blockers. | ClinVar, PMID: 12397047 |
| Hypertension | ADRB1 variants contribute to blood pressure regulation and response to antihypertensive therapy. | ClinVar, PMID: 15161656 |
| Myocardial Infarction | ADRB1 activation increases cardiac workload; variants may modulate risk. | ClinVar, PMID: 17554342 |
| Obesity | ADRB1 is expressed in adipose tissue; variants may influence metabolic rate and fat accumulation. | ClinVar, PMID: 15506638 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | High | High |
| Adipose Tissue | Medium | Medium |
| Kidney | Medium | Medium |
| Liver | Low | Low |
| Lung | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes | High | Primary cell type |
| HEK293 | Low | Often used for recombinant expression |
| HepG2 | Low | Hepatocellular carcinoma cell line |
| A549 | Low | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Arg389Gly | Single nucleotide polymorphism (SNP) | ~30% in Caucasian populations | Alters G protein coupling; Gly389 has reduced signaling activity. |
| Ser49Gly | SNP | ~15% in Caucasian populations | Affects receptor desensitization and downregulation. |
| Gly389Arg | SNP | Common variant | Increased receptor activity; associated with heart failure risk. |
Mutation functional classification
Loss of Function (LOF)
Ser49Gly variant leads to enhanced receptor desensitization, reducing functional response.
Gain of Function (GOF)
Arg389Gly (Arg389) variant increases G protein coupling and signaling, enhancing cardiac contractility.
Dominant Negative (DN)
No dominant negative mutations reported for ADRB1.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • beta-1 adrenergic receptor activity |
| • adenylate cyclase activating G protein-coupled receptor signaling pathway | • positive regulation of heart rate |
| • positive regulation of cardiac muscle contraction | • response to epinephrine |
| • response to norepinephrine | • plasma membrane |
Pathways
• Adrenergic signaling in cardiomyocytes
• GPCR downstream signaling
• cAMP signaling pathway
• Beta-adrenergic receptor signaling
Protein Summary
The beta-1 adrenergic receptor (ADRB1) is a 477-amino acid protein with seven transmembrane domains. It couples to Gs proteins, activating adenylate cyclase and increasing cAMP levels. This leads to activation of protein kinase A (PKA), which phosphorylates various targets involved in cardiac muscle contraction and relaxation. ADRB1 is a key regulator of cardiac function and a major drug target for beta-blockers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADRB1 Knockout HEK293 Cell Line | EDJ-KQ50105 | Human | 153 | Details Get a Quote |
| ADRB1 Knockout HeLa Cell Line | EDJ-KQ52570 | Human | 153 | Details Get a Quote |
| ADRB1 Knockout A-549 Cell Line | EDJ-KQ61048 | Human | 153 | Details Get a Quote |
| ADRB1 Knockout HCT 116 Cell Line | EDJ-KQ69527 | Human | 153 | Details Get a Quote |
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