PRKAB1
Protein Kinase AMP-Activated Non-Catalytic Subunit Beta 1
Gene Information Card
| Symbol | PRKAB1 |
|---|---|
| Full Name | Protein Kinase AMP-Activated Non-Catalytic Subunit Beta 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.23 |
| NCBI Gene ID | 5564 ncbi.nlm.nih.gov/gene/5564 |
| Ensembl ID | ENSG00000111725 |
| UniProt ID | Q9Y478 |
| OMIM ID | 602740 |
| HGNC ID | 9379 |
| Aliases | AMPK, beta 1 subunit; HAMPKb; AMPKb1 |
Description
PRKAB1 encodes the beta-1 regulatory subunit of AMP-activated protein kinase (AMPK), a heterotrimeric complex that acts as a cellular energy sensor. The beta subunit mediates substrate recognition and subcellular localization. AMPK is activated under low-energy conditions (high AMP/ATP ratio) and regulates glucose and lipid metabolism, mitochondrial biogenesis, and autophagy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiac hypertrophy | Altered AMPK signaling leads to dysregulated energy metabolism and hypertrophic growth | PMID: 23505220 |
| Type 2 diabetes | Impaired AMPK activity contributes to insulin resistance and metabolic dysfunction | PMID: 17983582 |
| Non-alcoholic fatty liver disease (NAFLD) | Reduced AMPK activity promotes hepatic steatosis | PMID: 21991398 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 19.2 | Medium |
| Heart | 15.8 | Medium |
| Liver | 12.1 | Medium |
| Brain | 8.5 | Low |
| Adipose tissue | 7.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.5 | Cervical cancer cell line |
| HepG2 | 11.2 | Hepatocellular carcinoma cell line |
| HEK293 | 9.8 | Embryonic kidney cell line |
| MCF7 | 7.6 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.491C>T (p.Thr164Ile) | Missense | <0.1% | Reduced AMPK activity in vitro |
| c.862G>A (p.Gly288Ser) | Missense | <0.1% | Altered protein stability |
Mutation functional classification
Loss of Function (LOF)
Missense variants such as p.Thr164Ile reduce AMPK complex activity, impairing energy sensing.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in PRKAB1.
Dominant Negative (DN)
Not described for PRKAB1.
View complete mutation data：
Gene Ontology (GO)
| • AMP-activated protein kinase activity (GO:0004679) | • Protein heterodimerization activity (GO:0046982) |
| • Regulation of fatty acid oxidation (GO:0031999) | • Cellular response to glucose starvation (GO:0042149) |
Pathways
• AMPK signaling pathway (KEGG: hsa04152)
• Adipocytokine signaling pathway (KEGG: hsa04920)
• Insulin signaling pathway (KEGG: hsa04910)
Protein Summary
The PRKAB1 protein (beta-1 subunit) is 270 amino acids long with a molecular weight of ~30 kDa. It contains a carbohydrate-binding module (CBM) that mediates glycogen binding and a conserved region for interaction with alpha and gamma subunits. The beta subunit is essential for AMPK complex assembly and regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRKAB1 Knockout HEK293 Cell Line | EDJ-KQ1446 | Human | 5564 | Details Get a Quote |
| PRKAB1 Knockout A-549 Cell Line | EDJ-KQ20996 | Human | 5564 | Details Get a Quote |
| PRKAB1 Knockout HCT 116 Cell Line | EDJ-KQ20997 | Human | 5564 | Details Get a Quote |
| PRKAB1 Knockout HeLa Cell Line | EDJ-KQ20998 | Human | 5564 | Details Get a Quote |
| PRKAB1 Knockout HAP1 Cell Line | EDC07889 | Human | 5564 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
