Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about GBA1PROTEIN: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.
Glucocerebrosidase is a 59.7 kDa enzyme essential for glycolipid metabolism in the lysosome.
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| Gene Symbol | GBA1PROTEIN |
| Protein Type | Hydrolase |
| Function | is a lysosomal hydrolase encoded by the GBA1 gene that catalyzes the hydrolysis of glucosylceramide to ceramide and glucose. |
| Subcellular Localization | </th><td>Lysosome</td></tr> |
| Amino Acids | 536 aa |
| GeneCards | GBA1PROTEIN |
| Human Protein Atlas | GBA1PROTEIN |
| Signal peptide (1-19) | Directs protein to lysosome |
| Propeptide (20-39) | Cleaved during maturation |
| Catalytic domain (40-536) | Contains active site |
| Active site residues | Glu235 (nucleophile), Glu349 (acid/base) |
| N-glycosylation sites | Asn59, Asn146, Asn190 |
| Saposin C binding site | Required for in vivo activity |
| Dimer interface | Forms functional homodimer |
| 1OGS | Native GCase structure |
| Associated Diseases | Aging, Als, Alzheimer, Cancer, dementia with Lewy bodies |
| Known Drugs/Compounds | AAV5, AAV9, Ambroxol, Bi-Htfr1, BI-hTFR1, levodopa |
| Interactions | ABCA1, Actin, AKT, ALPHA-SYNUCLEIN, AMPK, AND |
| SciDEX Hypotheses | GBA1-Deficiency Disrupts Mitochondrial- Lysosomal PD-Associated GWAS Variants in CTSO and CTSF Genes Glucosylceramide Accumulation from GCase Deficienc (+1 more) |
| KG Connections | 419 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
Knowledge base pages for this entity
graph TD
GBA1PROTEIN["GBA1PROTEIN"]
neurodegeneration["neurodegeneration"]
GBA1PROTEIN -->|"implicated_in"| neurodegeneration
style GBA1PROTEIN fill:#4a1a6b,stroke:#4fc3f7,stroke-width:2px,color:#e0e0e0| Target | Relation | Type | Str |
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Hypotheses where this entity is a therapeutic target
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Scientific analyses that reference this entity
No analyses mention this entity
Experimental studies targeting or related to this entity
| Experiment | Type | Disease | Score | Feasibility | Model | Status | Est. Cost |
|---|---|---|---|---|---|---|---|
| No experiments found | |||||||
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
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Multi-agent debates referencing this entity
No debates reference this entity
Hypotheses and analyses mentioning GBA1PROTEIN in their description or question text
No additional research found