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 | ||
IDG Partner Tools
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)
Items per page:
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:
1 – 2 of 2
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
0 | 161.4 | 78.8 | |||||
0 | 1.7 | 58.1 | |||||
Protein Data Bank (24)
1 – 5 of 24
PDB Structure Id | Ligand | Method | Resolution (Å) | M.W. (kDa) | Pub Year | Title |
|---|
PDB Structure Id | M.W. | Resolution | Pub Year |
|---|
Pathways (13)
Reactome (8)
KEGG (4)
WikiPathways (1)
Click on a row in the table to change the structure displayed.
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
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UniProt Keyword