ADRA1A
Adrenoceptor Alpha 1A
Gene Information Card
| Symbol | ADRA1A |
|---|---|
| Full Name | Adrenoceptor Alpha 1A |
| Gene Type | protein-coding |
| Chromosomal Location | 8p21.2 |
| NCBI Gene ID | 148 ncbi.nlm.nih.gov/gene/148 |
| Ensembl ID | ENSG00000120907 |
| UniProt ID | P35348 |
| OMIM ID | 104221 |
| HGNC ID | 277 |
| Aliases | ADRA1L1, ALPHA1AAR |
Description
The ADRA1A gene encodes the alpha-1A adrenergic receptor, a G protein-coupled receptor (GPCR) that mediates the effects of catecholamines such as norepinephrine and epinephrine. This receptor is involved in smooth muscle contraction, particularly in vascular and urogenital tissues, and plays a role in blood pressure regulation and lower urinary tract function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Benign Prostatic Hyperplasia (BPH) | ADRA1A mediates smooth muscle contraction in the prostate and bladder neck; antagonists are used therapeutically to reduce urinary symptoms. | ClinVar, OMIM |
| Hypertension | Alpha-1A receptor activation increases peripheral vascular resistance; polymorphisms may influence blood pressure regulation. | NCBI Gene, OMIM |
| Orthostatic Hypotension | Reduced ADRA1A function or blockade can impair vasoconstriction, leading to blood pressure drop upon standing. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Prostate | 12.5 | Medium |
| Liver | 8.3 | Low |
| Heart | 6.1 | Low |
| Brain (cerebellum) | 4.7 | Low |
| Kidney | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PC-3 (prostate cancer) | 15.2 | Moderate expression |
| HepG2 (liver cancer) | 7.8 | Low expression |
| SH-SY5Y (neuroblastoma) | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Cys) | Missense | <0.01% | Reduced receptor activity in vitro |
| c.548G>A (p.Arg183His) | Missense | <0.01% | Altered ligand binding affinity |
Mutation functional classification
Loss of Function (LOF)
p.Arg34Cys reduces receptor signaling and surface expression.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in ClinVar or COSMIC.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • alpha1-adrenergic receptor activity |
| • norepinephrine binding | • epinephrine binding |
| • plasma membrane | • signal transduction |
| • calcium ion transport | • smooth muscle contraction |
Pathways
• Adrenergic signaling in cardiomyocytes (KEGG: hsa04261)
• Calcium signaling pathway (KEGG: hsa04020)
• cGMP-PKG signaling pathway (KEGG: hsa04022)
• Neuroactive ligand-receptor interaction (KEGG: hsa04080)
Protein Summary
The alpha-1A adrenergic receptor is a 466-amino acid protein with seven transmembrane domains, typical of GPCRs. It couples primarily to Gq/11 proteins, activating phospholipase C and increasing intracellular calcium, leading to smooth muscle contraction. The receptor is a target for drugs used in hypertension and BPH.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADRA1A Knockout HEK293 Cell Line | EDJ-KQ1583 | Human | 148 | Details Get a Quote |
| ADRA1A Knockout HeLa Cell Line | EDJ-KQ52567 | Human | 148 | Details Get a Quote |
| ADRA1A Knockout A-549 Cell Line | EDJ-KQ61044 | Human | 148 | Details Get a Quote |
| ADRA1A Knockout HCT 116 Cell Line | EDJ-KQ69523 | Human | 148 | Details Get a Quote |
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