Protein Summary
This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
- ENST00000327247
- ENSP00000314508
- ENSG00000177628
- ENST00000368373
- ENSP00000357357
- ENST00000427500
- ENSP00000402577
- ENST00000428024
- ENSP00000397986
- GC
- GLUC
- GCB
- GBA1
- GLUC
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
biological process | 0.98 | ||
disease perturbation | 0.98 | ||
biological term | 0.94 | ||
phenotype | 0.91 | ||
transcription factor binding site profile | 0.87 | ||
Related Tools
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 2030.7 (req: < 5)
Gene RIFs: 259 (req: <= 3)
Antibodies: 413 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 2030.7 (req: >= 5)
Gene RIFs: 259 (req: > 3)
Antibodies: 413 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 35
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligands: 169
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 1
Approved Drugs (1)
1 – 1 of 1
Active Ligands (169)
1 – 10 of 169
GWAS Traits (2)
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1 – 2 of 2
GWAS Trait | EFO ID | Study Count | SNP Count | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|---|---|
1 | 1 | 0 | 161.4 | 78.8 | |||||
1 | 1 | 0 | 1.7 | 58.1 | |||||
Items per page:
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GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
0 | 161.4 | 78.8 | |||||
0 | 1.7 | 58.1 | |||||
Orthologs (12)
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Species | Name | Source ID | Gene ID | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|---|---|
Chimp | glucosidase, beta, acid | 449571 | ||||||
Macaque | glucosylceramidase beta | 719103 | ||||||
Mouse | MGI:95665 | 14466 | ||||||
Rat | RGD:1589149 | 684536 | ||||||
Dog | glucosylceramidase beta | VGNC:41130 | 612206 | |||||
Species | Name | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|
Chimp | glucosidase, beta, acid | |||||
Macaque | glucosylceramidase beta | |||||
Mouse | ||||||
Rat | ||||||
Dog | glucosylceramidase beta | |||||
Protein Structure (24 Structures, 1 AlphaFold Model)
Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB
1 – 5 of 24
PDB Structure Id | Ligand | Method | Resolution (Å) | Residues | Fraction of Total Protein | Pub Year | Title |
|---|
PDB Structure Id | Fraction of Total Protein | Resolution | Pub Year |
|---|
Pathways (13)
Reactome (8)
KEGG (4)
WikiPathways (1)
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Items per page:
1 – 5 of 8
Data Source | Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|---|
Reactome | Association of TriC/CCT with target proteins during biosynthesis | ||||
Reactome | Chaperonin-mediated protein folding | ||||
Reactome | Glycosphingolipid metabolism | ||||
Reactome | Metabolism | ||||
Reactome | Metabolism of lipids | ||||
Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|
Association of TriC/CCT with target proteins during biosynthesis | ||||
Chaperonin-mediated protein folding | ||||
Glycosphingolipid metabolism | ||||
Metabolism | ||||
Metabolism of lipids | ||||
Gene Ontology Terms (40)
Functions (4)
Components (5)
Processes (31)
Items per page:
10
1 – 4 of 4
GO Term | Evidence | Assigned by | ||
|---|---|---|---|---|
Inferred from Direct Assay (IDA) | BHF-UCL | |||
Inferred from Physical Interaction (IPI) | ARUK-UCL | |||
Inferred from Biological aspect of Ancestor (IBA) | GO_Central | |||
Inferred from Sequence or structural Similarity (ISS) | BHF-UCL | |||
Protein-Protein Interactions (206)
1 – 10 of 206
RAB27B
Family: Enzyme
Novelty: 0.01530218
p_int: 0.95592092
p_ni: 0.04407908
Score: 0.374
Data Source: BioPlex,STRINGDB
APOC3
Novelty: 0.0009635
p_int: 0.928609262
p_ni: 0.071390738
Data Source: BioPlex
RAB27A
Family: Enzyme
Novelty: 0.00369416
p_int: 0.836580327
p_ni: 0.163419673
Data Source: BioPlex
PSAP
Novelty: 0.00395347
Score: 0.972
Data Source: Reactome,STRINGDB
B4GALT6
Family: Enzyme
Novelty: 0.08523889
Score: 0.962
Data Source: STRINGDB
GALC
Family: Enzyme
Novelty: 0.00203532
Score: 0.949
Data Source: STRINGDB
GLB1
Family: Enzyme
Novelty: 0.00241713
Score: 0.948
Data Source: STRINGDB
ASAH1
Family: Enzyme
Novelty: 0.00374228
Score: 0.944
Data Source: STRINGDB
UGCG
Family: Enzyme
Novelty: 0.00481791
Score: 0.944
Data Source: STRINGDB
TCP1
Novelty: 0.00395241
Score: 0.938
Data Source: STRINGDB
Publication Statistics
PubMed Score 2030.70
PubMed score by year
PubTator Score 958.9
PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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UniProt Keyword