Tclin GBA Glucosylceramidase

Protein Summary

Description

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]

Uniprot Accession IDs

• P04062
• A8K796
• B7Z5G2
• B7Z6S1
• J3KQG4
• J3KQK9
• Q16545
• Q4VX22
• Q6I9R6
• Q9UMJ8

Gene Name

• GBA

Ensembl ID

• ENST00000327247
• ENSP00000314508
• ENSG00000177628
• ENST00000368373
• ENSP00000357357
• ENST00000427500
• ENSP00000402577
• ENST00000428024
• ENSP00000397986

Symbol

• GC
• GLUC
• GCB
• GBA1
• GLUC

Knowledge Table

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

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

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: 2753.07   (req: < 5)

Gene RIFs: 378   (req: <= 3)

Antibodies: 413   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 2753.07   (req: >= 5)

Gene RIFs: 378   (req: > 3)

Antibodies: 413   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 35

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 183

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 1