gene

GBA1

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about GBA1: 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.

419Connections

7Hypotheses

2Analyses

50Outgoing

50Incoming

1Experiments

2Debates

Summary

A gene referenced in 1 knowledge graph relationship. Key connections: encodes GCase (protein).

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🧬 Gene Info

Gene Symbol	GBA1
Full Name	Glucosylceramidase Beta 1
Aliases	Glucocerebrosidase
Chromosome	1q22
Protein Type	Enzyme
Function	is a lysosomal enzyme encoded by the GBA1 gene that plays a critical role in the breakdown of glucocerebroside into glucose and ceramide.
Molecular Weight	52 kDa
Amino Acids	497 aa
Exons	11
Pathways	Akt, Blood-Brain Barrier, Immune Response, Pi3K
UniProt ID	P04062
NCBI Gene ID	2629
Ensembl ID	ENSG00000177693
OMIM	606463
GeneCards	GBA1
Human Protein Atlas	GBA1
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	GeneCards HPA STRING

🔮 Predicted Structure: GBA1 — AlphaFold P04062 Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (8)

Knowledge base pages for this entity

Canonical Page

Pathway Diagram

graph TD
    GBA1["GBA1"]
    GBA1 -->|"causes"| PD["PD"]
    GBA1 -->|"expressed in"| _middle_temporal_gyrus__spiny_["'middle temporal gyrus'_spiny_L3"]
    GBA1 -->|"expressed in"| _middle_temporal_gyrus__aspiny["'middle temporal gyrus'_aspiny_L3"]
    GBA1 -->|"interacts"| Ms["Ms"]
    GBA1 -->|"activates"| Parkinson["Parkinson"]
    GBA1 -->|"activates"| Als["Als"]
    JUN["JUN"] -->|"interacts"| GBA1
    TFR1["TFR1"] -->|"activates"| GBA1
    PARK7["PARK7"] -->|"contributes to"| GBA1
    PINK1["PINK1"] -->|"contributes to"| GBA1
    VPS35["VPS35"] -->|"contributes to"| GBA1
    LRRK2["LRRK2"] -->|"activates"| GBA1
    GENES["GENES"] -->|"target for"| GBA1
    SNCA["SNCA"] -->|"activates"| GBA1

Outgoing (301)

Target	Relation	Type	Str
glucocerebrosidase	expresses	protein	1.00
GCase	expresses	protein	1.00
GLUCOSYLCERAMIDASE BETA 1	encodes	protein	0.99
Gaucher's disease	causes	disease	0.95
Gaucher disease	causes	disease	0.95
Parkinson Disease	risk_factor_for	disease	0.95
Parkinson's Disease	causes	disease	0.95
Parkinson's Disease	associated_with	disease	0.95
Gaucher Disease	associated_with	disease	0.95
Autophagy Process	regulates	process	0.95
Parkinson	associated_with	disease	0.90
α-synuclein accumulation	modulates	process	0.90
Autophagy-Lysosomal Pathway	involved_in	pathway	0.90
Gaucher Disease	causes	disease	0.90
Glucocerebrosidase	associated_with	enzyme	0.90
lysosome	part_of	pathway	0.90
Gaucher disease	associated_with	disease	0.90
lysosomal genes	part_of	pathway	0.90
Α-SYNUCLEIN	regulates	protein	0.90
glycosphingolipid catabolism	part_of	pathway	0.90
Lipid Metabolism	involved_in	pathway	0.85
Chaperone-Mediated Autophagy	involved_in	pathway	0.85
Endoplasmic Reticulum Stress	mediates	process	0.85
SNCA	regulates	protein	0.85
Oligodendrocytes	expressed_in	cell_type	0.85
Macroautophagy	involved_in	pathway	0.85
Ubiquitin-Proteasome System	involved_in	pathway	0.85
Parkinson'S Disease	risk_factor_for	disease	0.85
Genetic Diseases	treats	disease	0.85
oxidative stress response	participates_in	pathway	0.80
Parkinson's disease	regulates	disease	0.80
Endoplasmic Reticulum Stress	causes	process	0.80
dementia with Lewy bodies	associated_with	disease	0.80
Myelination	regulates	process	0.80
Mitochondrial Dysfunction	contributes_to	process	0.80
Neuroinflammation	contributes_to	process	0.80
Parkinsonism	associated_with	disease	0.80
lysosomal dysfunction	causes	pathway	0.80
Als	interacts_with	disease	0.75
Parkinson	therapeutic_target	disease	0.75
Genetic Diseases	associated_with	disease	0.75
Als	activates	disease	0.75
PD	causes	disease	0.72
PARK7	interacts_with	gene	0.70
PRKN	interacts_with	gene	0.70
SYNJ1	interacts_with	gene	0.70
Parkinson's disease	associated_with	disease	0.70
neurodegeneration	associated_with	disease	0.70
macroautophagy	inhibits	pathway	0.70
alpha-synuclein	regulates	protein	0.70

Incoming (118)

Source	Relation	Type	Str
Bi-Htfr1	associated_with	drug	0.98
Ambroxol	targets	drug	0.90
BI-hTFR1	targets	drug	0.90
Bi-Htfr1	targets	drug	0.90
AAV5	targets	drug	0.85
AAV9	targets	drug	0.85
AAV.GMU01 SS3-GBA1	targets	gene	0.70
ATP13A2	interacts_with	gene	0.70
DNAJC6	interacts_with	gene	0.70
FBXO7	interacts_with	gene	0.70
PARKINSON'S DISEASE	associated_with	gene	0.70
PARKINSON'S DISEASE	therapeutic_target	gene	0.70
LRRK2	therapeutic_target	gene	0.70
AKT	activates	gene	0.60
BECN1	regulates	gene	0.60
CTSD	regulates	gene	0.60
BECN1	inhibits	gene	0.60
CTSD	inhibits	gene	0.60
levodopa	targets	drug	0.60
ATP1A3	associated_with	gene	0.60
DNAJC13	associated_with	gene	0.60
DNAJC6	associated_with	gene	0.60
ASAH1	implicated_in	gene	0.60
ASAH1	expressed_in	gene	0.60
GENES	activates	gene	0.60
GENES	interacts_with	gene	0.60
DNA	causes	gene	0.60
PARKINSON	therapeutic_target	gene	0.60
LRRK2	associated_with	gene	0.60
BAG3	targets	gene	0.60
PI3K	regulates	gene	0.60
SNCA	associated_with	gene	0.60
GCH1	associated_with	gene	0.60
DNA	therapeutic_target	gene	0.60
PARK7	associated_with	gene	0.60
PINK1	associated_with	gene	0.60
PRKN	associated_with	gene	0.60
LRRK2	activates	gene	0.60
ATP13A2	expressed_in	gene	0.60
DJ1	expressed_in	gene	0.60
DNAJC6	expressed_in	gene	0.60
FBXO7	expressed_in	gene	0.60
PARKINSON'S DISEASE	interacts_with	gene	0.60
ALPHA-SYNUCLEIN	interacts_with	gene	0.60
AND	activates	gene	0.60
DJ1	associated_with	gene	0.60
FBXO7	associated_with	gene	0.60
DJ1	interacts_with	gene	0.60
PARKINSON'S DISEASE	activates	gene	0.60
AND	regulates	gene	0.60

Targeting Hypotheses (7)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
GBA1 Loss Triggers a TFEB-to-TFE3 Compensatory Switch in A9	0.750	neurodegeneration	-
GBA1-Deficiency Disrupts Mitochondrial- Lysosomal Contact Si	0.747	neurodegeneration	-
PD-Associated GWAS Variants in CTSO and CTSF Genes Create a	0.743	neurodegeneration	-
Lysosomal Acidification Failure: Convergent GBA1/LAMP2A–medi	0.700	neurodegeneration	-
Glucosylceramide Accumulation from GCase Deficiency Disrupts	0.700	neurodegeneration	-

VPS35 Retromer Dysfunction Creates a GCase Trafficking Bottl	0.700	neurodegeneration	-
Glucosylceramide-mediated feedback loop drives GBA-synuclein	0.380	Parkinson's disease	GBA-Synuclein Loop: Therapeutic Strategi

Mentioning Analyses (2)

Scientific analyses that reference this entity

What molecular mechanism causes VCP mutations to trigger aberrant HIF-1α activat

neurodegeneration | 2026-04-13 | 2 hypotheses Top: 0.793

SEA-AD Gene Expression Profiling — Allen Brain Cell Atlas

neurodegeneration | 2026-04-02 | 5 hypotheses Top: 0.761

Experiments (1)

Experimental studies targeting or related to this entity

Experiment	Type	Disease	Score	Feasibility	Model	Status	Est. Cost
Pain has been frequently reported as an initial symptom and the most t	genetic_association	Parkinson's disease	0.500	0.00	human	extracted	N/A

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
No papers found

Debates (2)

Multi-agent debates referencing this entity

The study shows VCP-mutant astrocytes exhibit hypoxia response activation withou

closed · Rounds: 4 · Score: 0.78 · 2026-04-13

Cell-type specific expression patterns of neurodegeneration genes in SEA-AD

closed · Rounds: 3 · Score: 0.68 · 2026-04-02

Related Research

Hypotheses and analyses mentioning GBA1 in their description or question text

Glucosylceramide-mediated feedback loop drives GBA-synuclein pathology

Score: 0.380 · Parkinson's disease · 2026-04-27

In GBA-associated PD, reduced glucocerebrosidase activity leads to glucosylceramide accumulation in neurons and glia, wh

GBA1

Understanding Entity Pages

Summary

Wiki Pages (8)

GBA1 Protein (Glucocerebrosidase)

GBA1→GCase→Lysosome→PD Causal Chain

GBA1 Gaucher Disease Modulator for Parkinson's Disease

GBA1 (Glucocerebrosidase) Protein

GBA1 — Glucocerebrosidase

GBA1 Gene-Mechanism-Therapy Causal Chains in Neurodegeneration

GBA1 Mutant Neurons

GBA1 (Redirect)