PRKAG1
Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 1
Gene Information Card
| Symbol | PRKAG1 |
|---|---|
| Full Name | Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.12 |
| NCBI Gene ID | 5571 ncbi.nlm.nih.gov/gene/5571 |
| Ensembl ID | ENSG00000111713 |
| UniProt ID | P54619 |
| OMIM ID | 602742 |
| HGNC ID | 9385 |
| Aliases | AMPK gamma1, AMPKG, MGC2615 |
Description
PRKAG1 encodes the gamma-1 regulatory subunit of AMP-activated protein kinase (AMPK), a heterotrimeric complex that acts as a cellular energy sensor. AMPK is activated under low-energy conditions (high AMP/ATP ratio) and regulates key metabolic pathways including glucose uptake, fatty acid oxidation, and protein synthesis. Mutations in PRKAG1 can lead to altered AMPK activity and are associated with cardiac and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glycogen storage cardiomyopathy (PRKAG1-related) | Loss-of-function or dominant-negative mutations impair AMPK regulation, leading to excessive glycogen accumulation in cardiac myocytes and ventricular pre-excitation. | ClinVar, OMIM |
| Wolff-Parkinson-White syndrome | Gain-of-function or aberrant AMPK signaling disrupts cardiac conduction system development, causing accessory pathways. | ClinVar, OMIM |
| Familial hypertrophic cardiomyopathy | Dysregulated AMPK activity promotes cardiac hypertrophy and glycogen storage. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 8.3 | Medium |
| Liver | 6.1 | Low |
| Brain | 5.4 | Low |
| Pancreas | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| HepG2 | 7.5 | Hepatocellular carcinoma |
| K562 | 6.8 | Leukemia cell line |
| A549 | 5.9 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.245G>A (p.Arg82Gln) | Missense | <0.01% | Dominant-negative; reduces AMP binding and AMPK activation |
| c.433C>T (p.Arg145Trp) | Missense | <0.01% | Gain-of-function; increases AMPK activity in heart |
| c.592G>A (p.Glu198Lys) | Missense | <0.01% | Loss-of-function; impairs heterotrimer formation |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce AMP binding or disrupt subunit interaction, leading to decreased AMPK activity and glycogen accumulation.
Gain of Function (GOF)
Mutations that enhance AMPK activity, often associated with cardiac conduction abnormalities.
Dominant Negative (DN)
Mutations that produce a defective gamma subunit that interferes with wild-type AMPK complex function.
View complete mutation data：
Gene Ontology (GO)
| • AMP-activated protein kinase activity | • protein heterodimerization activity |
| • ATP binding | • cellular response to glucose starvation |
| • regulation of fatty acid oxidation | • glycogen metabolic process |
Pathways
• AMPK signaling pathway (KEGG: hsa04152)
• Insulin signaling pathway (KEGG: hsa04910)
• Adipocytokine signaling pathway (KEGG: hsa04920)
Protein Summary
The PRKAG1 protein (AMPK gamma1) is a regulatory subunit of AMPK. It contains four cystathionine beta-synthase (CBS) domains that bind AMP, ADP, and ATP, allowing the complex to sense cellular energy status. Binding of AMP promotes activation by upstream kinases, while ATP binding inhibits activation. The gamma1 isoform is widely expressed, with highest levels in heart and skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRKAG1 Knockout HEK293 Cell Line | EDJ-KQ1449 | Human | 5571 | Details Get a Quote |
| PRKAG1 Knockout A-549 Cell Line | EDJ-KQ21001 | Human | 5571 | Details Get a Quote |
| PRKAG1 Knockout HCT 116 Cell Line | EDJ-KQ21002 | Human | 5571 | Details Get a Quote |
| PRKAG1 Knockout HeLa Cell Line | EDJ-KQ21003 | Human | 5571 | Details Get a Quote |
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