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 | ||
Protein Classes
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: 2110.53 (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: 2110.53 (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: 182
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 1
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
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.
Approved Drugs (1)
Active Ligands (182)
Protein-Protein Interactions (206)
RAB27B
Family: Enzyme
Novelty: 0.01530218
p_int: 0.95592092
p_ni: 0.04407908
Score: 0.374
Data Source: BioPlex,STRINGDB
RAB27A
Family: Enzyme
Novelty: 0.00369416
p_int: 0.836580327
p_ni: 0.163419673
Data Source: BioPlex
Nearest Tclin Targets (2)
Upstream (1)
Downstream (1)
Pathways (13)
Reactome (8)
KEGG (4)
WikiPathways (1)
Click on a row in the table to change the structure displayed.
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 | ||||
Viral Interactions (0)
Gene Ontology Terms (40)
Functions (4)
Components (5)
Processes (31)
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 | |||
Disease Associations ()
GWAS Traits (43)
Items per page:
1 – 5 of 43
GWAS Trait | EFO ID | Study Count | SNP Count | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|---|---|
urate measurement | 6 | 5 | 9 | 98.3 | |||||
serum urea measurement | 2 | 3 | 3 | 95.4 | |||||
serum gamma-glutamyl transferase measurement | 2 | 3 | 2 | 3.7 | 94.6 | ||||
reticulocyte measurement | 3 | 2 | 4 | 93.8 | |||||
cancer antigen 15.3 measurement | 1 | 2 | 2 | 93.8 | |||||
Items per page:
1 – 5 of 43
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
urate measurement | 9 | 98.3 | |||||
serum urea measurement | 3 | 95.4 | |||||
serum gamma-glutamyl transferase measurement | 2 | 3.7 | 94.6 | ||||
reticulocyte measurement | 4 | 93.8 | |||||
cancer antigen 15.3 measurement | 2 | 93.8 | |||||
Find similar targets by:
IDG Resources
Orthologs (12)
1 – 5 of 12
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 | |||||
Publication Statistics
PubMed Score 2110.53
PubMed score by year
PubTator Score 958.90
PubTator score by year
Related Publications
GeneRif Annotations (259)
Items per page:
0 of 0
PMID | Text |
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