ADRA1D
Adrenoceptor Alpha 1D
Gene Information Card
| Symbol | ADRA1D |
|---|---|
| Full Name | Adrenoceptor Alpha 1D |
| Gene Type | protein-coding |
| Chromosomal Location | 20p13 |
| NCBI Gene ID | 146 ncbi.nlm.nih.gov/gene/146 |
| Ensembl ID | ENSG00000171873 |
| UniProt ID | P25100 |
| OMIM ID | 104219 |
| HGNC ID | 285 |
| Aliases | ADRA1A, ADRA1R, ALPHA1D, dJ160A19.3 |
Description
The ADRA1D gene encodes the alpha-1D 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 |
|---|---|---|
| Hypertension | Increased vascular smooth muscle contraction via Gq/11 signaling leading to elevated peripheral resistance | ClinVar, OMIM |
| Benign Prostatic Hyperplasia (BPH) | Receptor-mediated contraction of prostate smooth muscle contributing to urinary obstruction | NCBI Gene, OMIM |
| Lower Urinary Tract Symptoms (LUTS) | Overexpression or hyperactivation of ADRA1D in bladder neck and prostate | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Prostate | 12.5 | Medium |
| Aorta | 8.3 | Medium |
| Bladder | 7.1 | Medium |
| Heart | 4.2 | Low |
| Liver | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PC-3 (prostate cancer) | 10.2 | Moderate expression |
| LNCaP (prostate cancer) | 6.8 | Low expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.776C>T (p.Pro259Leu) | Missense | <0.01% | Altered ligand binding affinity; ClinVar |
| c.112G>A (p.Gly38Arg) | Missense | <0.01% | Potential loss of function; ClinVar |
| c.1435C>T (p.Arg479Cys) | Missense | <0.01% | Unknown significance; ClinVar |
Mutation functional classification
Loss of Function (LOF)
p.Gly38Arg may reduce receptor signaling efficacy.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • alpha1-adrenergic receptor activity |
| • norepinephrine binding | • epinephrine binding |
| • plasma membrane | • signal transduction |
| • 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-1D adrenergic receptor is a 572-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. It is a target for drugs used in hypertension and BPH, such as tamsulosin and silodosin.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADRA1D Knockout HEK293 Cell Line | EDJ-KQ1585 | Human | 146 | Details Get a Quote |
| ADRA1D Knockout A-549 Cell Line | EDJ-KQ21270 | Human | 146 | Details Get a Quote |
| ADRA1D Knockout HeLa Cell Line | EDJ-KQ52566 | Human | 146 | Details Get a Quote |
| ADRA1D Knockout HCT 116 Cell Line | EDJ-KQ69521 | Human | 146 | Details Get a Quote |
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