Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 57733
MIM: 606619
HGNC: 19069
Ensembl: ENSG00000249948
Variants:
dbSNP: 57733
ClinVar: 57733
TCGA: ENSG00000249948
COSMIC: GBA3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000249948 | ENST00000610628 | A0A087WTY7 |
| ENSG00000249948 | ENST00000613293 | A0A087WWR5 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38428407 | 2024 | GBA3 promotes fatty acid oxidation and alleviates non-alcoholic fatty liver by increasing CPT2 transcription. | 0 |
| 38428407 | 2024 | GBA3 promotes fatty acid oxidation and alleviates non-alcoholic fatty liver by increasing CPT2 transcription. | 0 |
| 32412773 | 2020 | Decreased expression of GBA3 correlates with a poor prognosis in hepatocellular carcinoma patients. | 6 |
| 32665690 | 2020 | GBA3: a polymorphic pseudogene in humans that experienced repeated gene loss during mammalian evolution. | 1 |
| 32412773 | 2020 | Decreased expression of GBA3 correlates with a poor prognosis in hepatocellular carcinoma patients. | 6 |
| 32665690 | 2020 | GBA3: a polymorphic pseudogene in humans that experienced repeated gene loss during mammalian evolution. | 1 |
| 26193330 | 2015 | Co-Expression of NEU2 and GBA3 Causes a Drastic Reduction in Cytosolic Sialyl Free N-glycans in Human MKN45 Stomach Cancer Cells-Evidence for the Physical Interaction of NEU2 and GBA3. | 7 |
| 26193330 | 2015 | Co-Expression of NEU2 and GBA3 Causes a Drastic Reduction in Cytosolic Sialyl Free N-glycans in Human MKN45 Stomach Cancer Cells-Evidence for the Physical Interaction of NEU2 and GBA3. | 7 |
| 20728381 | 2011 | The cytosolic β-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation. | 24 |
| 20728381 | 2011 | The cytosolic β-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation. | 24 |
| 20728381 | 2011 | The cytosolic β-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation. | 24 |
| 20728381 | 2011 | The cytosolic β-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation. | 24 |
| 18662675 | 2008 | Crystal structure of the covalent intermediate of human cytosolic beta-glucosidase. | 7 |
| 18662675 | 2008 | Crystal structure of the covalent intermediate of human cytosolic beta-glucosidase. | 7 |
| 17555766 | 2007 | The crystal structure of human cytosolic beta-glucosidase unravels the substrate aglycone specificity of a family 1 glycoside hydrolase. | 19 |
Citation
Dessen P
GBA3 (glucosylceramidase beta 3 (gene/pseudogene))
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/63720/teaching-explorer/new-content/
