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.

434Connections

0Hypotheses

1Analyses

50Outgoing

50Incoming

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	ALS, Aging, Alzheimer, Cancer, Gaucher Disease
Known Drugs/Compounds	BI-hTFR1, Bi-Htfr1, AAV5, AAV9, Ambroxol, levodopa
Interactions	TFRC, LRRK2, JUN, TFR1, SNCA, MLKL
KG Connections	434 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 (21)

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 (312)

Target	Relation	Type	Str
GLUCOSYLCERAMIDASE BETA 1	encodes	protein	0.99
Gaucher disease	causes	disease	0.95
Autophagy Process	regulates	process	0.95
Gaucher's disease	causes	disease	0.95
Parkinson Disease	risk_factor_for	disease	0.95
Gaucher Disease	associated_with	disease	0.95
Parkinson's Disease	causes	disease	0.95
Parkinson's Disease	contributes_to	disease	0.95
Gaucher Disease	causes	disease	0.90
Glucocerebrosidase	associated_with	enzyme	0.90
α-synuclein accumulation	modulates	process	0.90
Autophagy-Lysosomal Pathway	involved_in	pathway	0.90
Parkinson	associated_with	disease	0.90
Α-SYNUCLEIN	regulates	protein	0.90
Genetic Diseases	treats	disease	0.85
Ubiquitin-Proteasome System	involved_in	pathway	0.85
Chaperone-Mediated Autophagy	involved_in	pathway	0.85
Macroautophagy	involved_in	pathway	0.85
Oligodendrocytes	expressed_in	cell_type	0.85
SNCA	regulates	protein	0.85
Endoplasmic Reticulum Stress	mediates	process	0.85
Parkinson'S Disease	risk_factor_for	disease	0.85
Lipid Metabolism	involved_in	pathway	0.85
Endoplasmic Reticulum Stress	causes	process	0.80
Parkinson's Disease	risk_factor_for	disease	0.80
oxidative stress response	participates_in	pathway	0.80
Myelination	regulates	process	0.80
Mitochondrial Dysfunction	contributes_to	process	0.80
Neuroinflammation	contributes_to	process	0.80
Parkinson's disease	regulates	disease	0.80
Genetic Diseases	associated_with	disease	0.75
Als	activates	disease	0.75
Parkinson	therapeutic_target	disease	0.75
Als	interacts_with	disease	0.75
PD	causes	disease	0.72
"middle temporal gyrus"_spiny_L3	expressed_in	cell_type	0.70
"middle temporal gyrus"_aspiny_L3	expressed_in	cell_type	0.70
"middle temporal gyrus"_spiny_L5	expressed_in	cell_type	0.70
neurodegeneration	associated_with	disease	0.70
PARK7	interacts_with	gene	0.70
PRKN	interacts_with	gene	0.70
SYNJ1	interacts_with	gene	0.70
LRRK2	targets	gene	0.70
glucocerebrosidase	encodes	protein	0.70
Parkinson disease	associated_with	disease	0.70
ubiquitin-proteasome system	regulates	pathway	0.70
chaperone-mediated autophagy	inhibits	pathway	0.70
macroautophagy	inhibits	pathway	0.70
Parkinson's disease	causes	disease	0.70
Parkinson's disease	implicated_in	disease	0.70

Incoming (122)

Source	Relation	Type	Str
Bi-Htfr1	associated_with	drug	0.98
BI-hTFR1	targets	drug	0.90
Bi-Htfr1	targets	drug	0.90
Ambroxol	targets	drug	0.90
AAV5	targets	drug	0.85
AAV9	targets	drug	0.85
LRRK2	therapeutic_target	gene	0.70
ATP13A2	interacts_with	gene	0.70
DNAJC6	interacts_with	gene	0.70
FBXO7	interacts_with	gene	0.70
PARKINSON'S DISEASE	therapeutic_target	gene	0.70
PARKINSON'S DISEASE	associated_with	gene	0.70
JUN	interacts_with	gene	0.60
TFR1	activates	gene	0.60
PARK7	contributes_to	gene	0.60
PINK1	contributes_to	gene	0.60
VPS35	contributes_to	gene	0.60
LRRK2	activates	gene	0.60
SNCA	activates	gene	0.60
PI3K	regulates	gene	0.60
TFRC	interacts_with	gene	0.60
SNCA	associated_with	gene	0.60
ATP13A2	associated_with	gene	0.60
PARK7	associated_with	gene	0.60
TP53	associated_with	gene	0.60
PRKN	associated_with	gene	0.60
PINK1	associated_with	gene	0.60
PARK2	associated_with	gene	0.60
LRRK2	associated_with	gene	0.60
PINK1	therapeutic_target	gene	0.60
SNCA	therapeutic_target	gene	0.60
BAX	activates	gene	0.60
BIP	activates	gene	0.60
LONP1	interacts_with	gene	0.60
GBA	associated_with	gene	0.60
GCASE	associated_with	gene	0.60
GCH1	associated_with	gene	0.60
VPS35	associated_with	gene	0.60
PRKN	contributes_to	gene	0.60
GCASE	causes	gene	0.60
CHOP	activates	gene	0.60
autophagy	inhibits	pathway	0.60
FH	associated_with	gene	0.60
GBA	activates	gene	0.60
APOE	associated_with	gene	0.60
APOE4	associated_with	gene	0.60
ABCA1	inhibits	gene	0.60
GBA	interacts_with	gene	0.60
GBA	targets	gene	0.60
DJ1	associated_with	gene	0.60

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
No targeting hypotheses

Mentioning Analyses (1)

Scientific analyses that reference this entity

SEA-AD Gene Expression Profiling — Allen Brain Cell Atlas

neurodegeneration | 2026-04-02 | 5 hypotheses Top: 0.519

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
No papers found

GBA1

Understanding Entity Pages

Summary

Wiki Pages (21)

GBA1 (Redirect)

Personalized Treatment Plan — Atypical Parkinsonism (CBS/PSP)

Novel Therapy Index

Parkinson's Disease

Atypical Parkinsonism

Oligodendrocytes

Epigenetic Dysregulation in Neurodegeneration

LRRK2 Pathway in Parkinson's Disease

Neuroprotection Strategies in Neurodegeneration

RNA Therapeutics for Neurodegeneration Investment Landscape

GBA1→GCase→Lysosome→PD Causal Chain

Ambroxol for Neurodegeneration (GCase Chaperone Strategy)

Synuclein Pathway in Parkinson's Disease

Autophagy-Lysosomal Impairment Across Neurodegenerative Diseases

gba

Autophagy-Lysosomal Impairment Comparison — AD/PD/ALS/FTD/HD

Unfolded Protein Response (UPR)

Lysosomal Dysfunction in Neurodegeneration

Alpha-Synuclein ESCRT-III Inhibition Mechanism

TGF-β Signaling in Parkinson's Disease