GSK3A
Glycogen Synthase Kinase 3 Alpha
Gene Information Card
| Symbol | GSK3A |
|---|---|
| Full Name | Glycogen Synthase Kinase 3 Alpha |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 2931 ncbi.nlm.nih.gov/gene/2931 |
| Ensembl ID | ENSG00000105723 |
| UniProt ID | P49840 |
| OMIM ID | 606784 |
| HGNC ID | 4616 |
| Aliases | GSK3A, GSK-3 alpha |
Description
GSK3A (Glycogen Synthase Kinase 3 Alpha) is a protein-coding gene that encodes a multifunctional serine/threonine protein kinase. It is a key component of the Wnt signaling pathway, regulating glycogen metabolism, cell cycle, and apoptosis. GSK3A is ubiquitously expressed and phosphorylates numerous substrates, including beta-catenin, tau, and cyclin D1. Dysregulation of GSK3A is implicated in cancer, neurodegenerative disorders, and diabetes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer Disease | GSK3A hyperphosphorylates tau protein, contributing to neurofibrillary tangle formation | ClinVar, OMIM |
| Bipolar Disorder | GSK3A is a target of lithium; altered activity linked to mood regulation | OMIM |
| Type 2 Diabetes | GSK3A inhibits glycogen synthase, impairing insulin signaling | NCBI Gene |
| Colorectal Cancer | GSK3A promotes beta-catenin degradation; loss of function may activate Wnt signaling | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 25.1 | High |
| Liver | 18.3 | Medium |
| Heart | 12.7 | Medium |
| Skeletal Muscle | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 22.5 | High expression |
| HeLa | 15.3 | Medium expression |
| HepG2 | 19.8 | Medium expression |
| SH-SY5Y | 28.4 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare | Loss of start codon; likely loss of function |
| c.103C>T (p.Arg35Trp) | Missense | 0.01% | Reduced kinase activity |
| c.1190G>A (p.Arg397Gln) | Missense | 0.005% | Unknown effect |
Mutation functional classification
Loss of Function (LOF)
Mutations affecting the ATP-binding site or catalytic domain reduce kinase activity, impairing Wnt signaling and glycogen metabolism.
Gain of Function (GOF)
Not well documented; activating mutations are rare and may promote oncogenic signaling.
Dominant Negative (DN)
Not reported for GSK3A.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Wnt signaling pathway (KEGG: hsa04310)
• Insulin signaling pathway (KEGG: hsa04910)
• Alzheimer disease (KEGG: hsa05010)
Protein Summary
GSK3A is a 51 kDa serine/threonine kinase composed of 483 amino acids. It contains a catalytic domain with an ATP-binding site and a substrate-binding groove. GSK3A is constitutively active and inhibited by phosphorylation at Ser21. It phosphorylates over 100 substrates, including beta-catenin (targeting it for degradation), tau (promoting microtubule destabilization), and glycogen synthase (inhibiting glycogen synthesis). GSK3A is a key regulator of cell proliferation, differentiation, and survival.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GSK3A Knockout HEK293 Cell Line | EDJ-KQ4806 | Human | 2931 | Details Get a Quote |
| GSK3A Knockout HeLa Cell Line | EDJ-KQ26355 | Human | 2931 | Details Get a Quote |
| GSK3A Knockout A-549 Cell Line | EDJ-KQ27572 | Human | 2931 | Details Get a Quote |
| GSK3A Knockout HCT 116 Cell Line | EDJ-KQ27573 | Human | 2931 | Details Get a Quote |
