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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
Gene Name
Ensembl ID
  • ENST00000327247
  • ENSP00000314508
  • ENSG00000177628
  • ENST00000368373
  • ENSP00000357357
  • ENST00000427500
  • ENSP00000402577
  • ENST00000428024
  • ENSP00000397986

Symbol
  • GC
  • GLUC
  • GCB
  • GBA1
  • GLUC
Illumination Graph
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


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
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
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
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
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: 2030.7   (req: < 5)
Gene RIFs: 259   (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: 2030.7   (req: >= 5)
Gene RIFs: 259   (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: 169
Tclin

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

Active Drug: 1
Approved Drugs (1)
1 – 1 of 1
ambroxol
chemical structure image
GWAS Traits (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
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)
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
Protein Structure (24 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-P04062-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

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)
Association of TriC/CCT with target proteins during biosynthesis (R-HSA-390471)

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
Protein-Protein Interactions (206)
1 – 10 of 206
RAB27B
Tbio
Family: Enzyme
Novelty: 0.01530218
p_int: 0.95592092
p_ni: 0.04407908
Score: 0.374
Data Source: BioPlex,STRINGDB
APOC3
Tclin
Novelty: 0.0009635
p_int: 0.928609262
p_ni: 0.071390738
Data Source: BioPlex
RAB27A
Tchem
Family: Enzyme
Novelty: 0.00369416
p_int: 0.836580327
p_ni: 0.163419673
Data Source: BioPlex
PSAP
Tbio
Novelty: 0.00395347
Score: 0.972
Data Source: Reactome,STRINGDB
B4GALT6
Tbio
Family: Enzyme
Novelty: 0.08523889
Score: 0.962
Data Source: STRINGDB
GALC
Tbio
Family: Enzyme
Novelty: 0.00203532
Score: 0.949
Data Source: STRINGDB
GLB1
Tchem
Family: Enzyme
Novelty: 0.00241713
Score: 0.948
Data Source: STRINGDB
ASAH1
Tchem
Family: Enzyme
Novelty: 0.00374228
Score: 0.944
Data Source: STRINGDB
UGCG
Tclin
Family: Enzyme
Novelty: 0.00481791
Score: 0.944
Data Source: STRINGDB
TCP1
Tbio
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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