protein

GBA1PROTEIN

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

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.

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Summary

Glucocerebrosidase is a 59.7 kDa enzyme essential for glycolipid metabolism in the lysosome.

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🔬 Protein Info
Gene SymbolGBA1PROTEIN
Protein TypeHydrolase
Functionis 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 Acids536 aa
GeneCardsGBA1PROTEIN
Human Protein AtlasGBA1PROTEIN
Signal peptide (1-19)Directs protein to lysosome
Propeptide (20-39)Cleaved during maturation
Catalytic domain (40-536)Contains active site
Active site residuesGlu235 (nucleophile), Glu349 (acid/base)
N-glycosylation sitesAsn59, Asn146, Asn190
Saposin C binding siteRequired for in vivo activity
Dimer interfaceForms functional homodimer
1OGSNative GCase structure
Associated DiseasesAging, Als, Alzheimer, Cancer, dementia with Lewy bodies
Known Drugs/CompoundsAAV5, AAV9, Ambroxol, Bi-Htfr1, BI-hTFR1, levodopa
InteractionsABCA1, Actin, AKT, ALPHA-SYNUCLEIN, AMPK, AND
SciDEX HypothesesGBA1-Deficiency Disrupts Mitochondrial- Lysosomal
PD-Associated GWAS Variants in CTSO and CTSF Genes
Glucosylceramide Accumulation from GCase Deficienc (+1 more)
KG Connections419 knowledge graph edges
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

Wiki Pages (1)

Knowledge base pages for this entity

Canonical Page

GBA1 (Glucocerebrosidase) Protein

protein · 1352 words

Pathway Diagram

graph TD
    GBA1PROTEIN["GBA1PROTEIN"]
    neurodegeneration["neurodegeneration"]
    GBA1PROTEIN -->|"implicated_in"| neurodegeneration
    style GBA1PROTEIN fill:#4a1a6b,stroke:#4fc3f7,stroke-width:2px,color:#e0e0e0

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Targeting Hypotheses (0)

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Mentioning Analyses (0)

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Experiments (0)

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Related Papers (0)

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Related Research

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