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GBA
Description
glucosylceramidase beta
Image
GO Annotations
Cellular Component
Lysosome
Lysosomal Membrane
Endoplasmic Reticulum
Golgi Apparatus
Trans-Golgi Network
Extrinsic Component Of Membrane
Lysosomal Lumen
Extracellular Exosome
Molecular Function
Glucosylceramidase Activity
Signaling Receptor Binding
Scavenger Receptor Binding
Protein Binding
Glucosyltransferase Activity
Steryl-beta-glucosidase Activity
Biological Process
Glucosylceramide Catabolic Process
Glycosphingolipid Metabolic Process
Autophagy
Mitochondrion Organization
Lysosome Organization
Cholesterol Metabolic Process
Determination Of Adult Lifespan
Cellular Response To Starvation
Response To PH
Microglia Differentiation
Regulation Of Macroautophagy
Antigen Processing And Presentation
Lipid Storage
Cerebellar Purkinje Cell Layer Formation
Pyramidal Neuron Differentiation
Termination Of Signal Transduction
Lipid Glycosylation
Neuron Projection Development
Negative Regulation Of Protein-containing Complex Assembly
Regulation Of TOR Signaling
Regulation Of Cellular Protein Metabolic Process
Positive Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process
Negative Regulation Of Interleukin-6 Production
T Cell Differentiation In Thymus
Regulation Of Water Loss Via Skin
Response To Testosterone
Positive Regulation Of Protein Dephosphorylation
Cell Death In Response To Oxidative Stress
Positive Regulation Of Protein-containing Complex Disassembly
Negative Regulation Of MAP Kinase Activity
Negative Regulation Of Neuron Apoptotic Process
Skin Morphogenesis
Response To Estrogen
Sphingosine Biosynthetic Process
Ceramide Biosynthetic Process
Cell Maturation
Brain Morphogenesis
Homeostasis Of Number Of Cells
Negative Regulation Of Inflammatory Response
Neuromuscular Process
Positive Regulation Of Protein Metabolic Process
Neuron Apoptotic Process
Microglial Cell Proliferation
Motor Behavior
Cellular Response To Tumor Necrosis Factor
Hematopoietic Stem Cell Proliferation
Response To Dexamethasone
Lymphocyte Migration
Response To Thyroid Hormone
Negative Regulation Of Neuron Death
Beta-glucoside Catabolic Process
Positive Regulation Of Proteolysis Involved In Cellular Protein Catabolic Process
Positive Regulation Of Protein Lipidation
Positive Regulation Of Neuronal Action Potential
Positive Regulation Of Autophagy Of Mitochondrion In Response To Mitochondrial Depolarization
Autophagosome Organization
Regulation Of Lysosomal Protein Catabolic Process
Pathways
Glycosphingolipid metabolism
Association of TriC/CCT with target proteins during biosynthesis
Drugs
scyllo-inositol
N-acetyl-alpha-D-glucosamine
Velaglucerase alfa
(2R,3R,4R,5S)-2-(HYDROXYMETHYL)-1-NONYLPIPERIDINE-3,4,5-TRIOL
Diseases
Lewy body dementia (LBD); Dementia with Lewy bodies (DLB)
Gaucher disease
Progressive myoclonic epilepsy (PME), including: Lafora disease (LBD); Unverricht-Lundborg disease (ULD); Neuronal ceroid lipofuscinoses (NCL); Type I sialidosis; Action myoclonus-renal failure syndrome (AMRF); Type III Gaucher disease (GD)
GWAS
Body fat distribution (leg fat ratio) (
30664634
)
Body fat distribution (trunk fat ratio) (
30664634
)
Brain morphology (min-P) (
32665545
)
Brain morphology (MOSTest) (
32665545
)
Cortical surface area (min-P) (
32665545
)
Cortical surface area (MOSTest) (
32665545
)
Cortical thickness (min-P) (
32665545
)
Cortical thickness (MOSTest) (
32665545
)
Crohn's disease (
28067908
)
Dementia with Lewy bodies (
29263008
31065058
)
Inflammatory bowel disease (
28067908
)
Intracranial aneurysm (
30823506
)
Parkinson's disease (
22451204
25064009
27182965
24842889
28892059
21738487
)
Renal function-related traits (BUN) (
22797727
)
Subcortical volume (min-P) (
32665545
)
Subcortical volume (MOSTest) (
32665545
)
Novel Interacting Genes
1 novel interacting genes:
MLF1
Interacting Genes
3 interacting genes:
NEDD4
PSAP
SNCA
Entrez ID
2629
HPRD ID
06973
Ensembl ID
ENSG00000177628
Uniprot IDs
A0A068F658
B7Z6S9
P04062
PDB IDs
1OGS
1Y7V
2F61
2J25
2NSX
2NT0
2NT1
2V3D
2V3E
2V3F
2VT0
2WCG
2WKL
2XWD
2XWE
3GXD
3GXF
3GXI
3GXM
3KE0
3KEH
3RIK
3RIL
5LVX
6MOZ
6Q1N
6Q1P
6Q6K
6Q6L
6Q6N
6TJJ
6TJK
6TJQ
6TN1
Enriched GO Terms of Interacting Partners
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