ADIPOR1 (Adiponectin Receptor 1)
A key receptor mediating adiponectin signaling in metabolism and inflammation
Gene Information Card
| Symbol | ADIPOR1 |
|---|---|
| Full Name | Adiponectin Receptor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 51094 ncbi.nlm.nih.gov/gene/51094 |
| Ensembl ID | ENSG00000159346 |
| UniProt ID | Q96A54 |
| OMIM ID | 607945 |
| HGNC ID | 24040 |
| Aliases | PAQR1, ACDCR1, CGI-45 |
Description
ADIPOR1 encodes a seven-transmembrane domain receptor for adiponectin, a hormone secreted by adipose tissue that regulates glucose and lipid metabolism. Binding of adiponectin to ADIPOR1 activates AMPK and PPAR-alpha pathways, enhancing insulin sensitivity and fatty acid oxidation. The receptor is widely expressed, with highest levels in skeletal muscle, heart, and liver.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Type 2 Diabetes | Reduced ADIPOR1 expression impairs adiponectin signaling, leading to insulin resistance | ClinVar, OMIM |
| Obesity | Downregulation of ADIPOR1 in adipose tissue correlates with metabolic dysfunction | NCBI Gene, PubMed |
| Cardiovascular Disease | ADIPOR1 mediates cardioprotective effects of adiponectin; variants may increase risk | OMIM, ClinVar |
| Non-alcoholic Fatty Liver Disease (NAFLD) | Decreased hepatic ADIPOR1 expression linked to steatosis and inflammation | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal Muscle | 12.5 | High |
| Heart | 10.8 | High |
| Liver | 8.2 | Medium |
| Adipose Tissue | 6.1 | Medium |
| Kidney | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 8.9 | Hepatocyte cell line |
| C2C12 | 11.2 | Myoblast cell line |
| 3T3-L1 | 5.7 | Adipocyte cell line |
| HEK293 | 7.4 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.584C>T (p.Pro195Leu) | Missense | <0.1% | Reduced adiponectin binding and signaling |
| c.100G>A (p.Val34Ile) | Missense | 0.2% | Impaired AMPK activation |
| c.112A>G (p.Thr38Ala) | Missense | 0.3% | Altered receptor trafficking |
Mutation functional classification
Loss of Function (LOF)
p.Pro195Leu reduces ligand binding and downstream AMPK activation
Gain of Function (GOF)
No confirmed gain-of-function variants reported
Dominant Negative (DN)
Not described for ADIPOR1
View complete mutation data：ClinVar: https://www.clinvar.com/gene/51094 COSMIC: https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=ADIPOR1
Gene Ontology (GO)
| • adiponectin binding | • G protein-coupled receptor activity |
| • AMP-activated protein kinase activation | • positive regulation of fatty acid oxidation |
| • glucose homeostasis |
Pathways
• Adiponectin signaling pathway
• AMPK signaling
• PPAR signaling
Protein Summary
ADIPOR1 is a 375-amino acid integral membrane protein with seven transmembrane domains. It functions as a receptor for adiponectin, mediating metabolic effects through activation of AMPK and PPAR-alpha. The protein is localized to the plasma membrane and endosomes, and its expression is regulated by insulin and nutritional status.
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADIPOR1 Knockout HEK293 Cell Line | EDJ-KQ1860 | Human | 51094 | Details Get a Quote |
| ADIPOR1 Knockout A-549 Cell Line | EDJ-KQ21724 | Human | 51094 | Details Get a Quote |
| ADIPOR1 Knockout HCT 116 Cell Line | EDJ-KQ21725 | Human | 51094 | Details Get a Quote |
| ADIPOR1 Knockout HeLa Cell Line | EDJ-KQ21726 | Human | 51094 | Details Get a Quote |
| Adipor1 Knockout CHO-K1 Cell Line | EDJ-KZ528 | Hamster | 51094 | Details Get a Quote |
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