GBA
Gene Information
- Official Symbol: GBA
- Official Name: glucosylceramidase beta
- Aliases and Previous Symbols: N/A
- Entrez ID: 2629
- UniProt: P04062
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: N/A
Function Summary
- Entrez 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].
- UniProt Summary: N/A
Pfam Domains GO Terms
Pfam Domains
| Glyco hydro 30 |
GO Terms
| positive regulation of neuronal action potential |
| beta-glucoside catabolic process |
| steryl-beta-glucosidase activity |
| beta-glucoside metabolic process |
| termination of signal transduction |
| glucosylceramidase activity |
| glucosylceramide catabolic process |
| positive regulation of protein lipidation |
| scavenger receptor binding |
| regulation of neuronal action potential |
| positive regulation of lipoprotein metabolic process |
| regulation of protein lipidation |
| glucosyltransferase activity |
| glucosylceramide metabolic process |
| glycosylceramide catabolic process |
| positive regulation of transmission of nerve impulse |
| regulation of lysosomal protein catabolic process |
| skin morphogenesis |
| positive regulation of action potential |
| regulation of protein catabolic process in the vacuole |
| glycoside catabolic process |
| negative regulation of protein homooligomerization |
| sphingosine biosynthetic process |
| positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization |
| lipid glycosylation |
| sphingoid biosynthetic process |
| sphingosine metabolic process |
| regulation of autophagy of mitochondrion in response to mitochondrial depolarization |
| glycosphingolipid catabolic process |
| regulation of lipoprotein metabolic process |
| glycolipid catabolic process |
| sphingoid metabolic process |
| negative regulation of protein oligomerization |
| regulation of transmission of nerve impulse |
| glycosylceramide metabolic process |
| diol biosynthetic process |
| positive regulation of autophagy of mitochondrion |
| ceramide catabolic process |
| response to mitochondrial depolarisation |
| regulation of protein homooligomerization |
| cell death in response to oxidative stress |
| diol metabolic process |
| glycoside metabolic process |
| regulation of water loss via skin |
| response to thyroid hormone |
| sphingolipid catabolic process |
| membrane lipid catabolic process |
| positive regulation of protein complex disassembly |
| response to testosterone |
| response to dexamethasone |
| response to pH |
| regulation of autophagy of mitochondrion |
| negative regulation of interleukin-6 production |
| regulation of protein oligomerization |
| positive regulation of protein dephosphorylation |
| glycosyl compound catabolic process |
| ceramide biosynthetic process |
| regulation of action potential |
| positive regulation of dephosphorylation |
| lysosome organization |
| polyol biosynthetic process |
| lytic vacuole organization |
| positive regulation of nervous system process |
| glycosphingolipid metabolic process |
| autophagosome organization |
| extrinsic component of membrane |
| multicellular organismal water homeostasis |
| water homeostasis |
| negative regulation of MAP kinase activity |
| response to estrogen |
| hydrolase activity |
| positive regulation of proteasomal ubiquitin-dependent protein catabolic process |
| ceramide metabolic process |
| sphingolipid biosynthetic process |
| lysosomal lumen |
| response to antineoplastic agent |
| positive regulation of ubiquitin-dependent protein catabolic process |
| regulation of TOR signaling |
| positive regulation of proteasomal protein catabolic process |
| glycolipid metabolic process |
| liposaccharide metabolic process |
| polyol metabolic process |
| alcohol biosynthetic process |
| regulation of protein complex disassembly |
| positive regulation of mitochondrion organization |
| cholesterol metabolic process |
| positive regulation of proteolysis involved in cellular protein catabolic process |
| positive regulation of autophagy |
| regulation of proteasomal ubiquitin-dependent protein catabolic process |
| secondary alcohol metabolic process |
| vacuole organization |
| membrane lipid biosynthetic process |
| negative regulation of protein complex assembly |
| negative regulation of protein serine/threonine kinase activity |
| glycosyl compound metabolic process |
| sterol metabolic process |
| negative regulation of inflammatory response |
| regulation of nervous system process |
| regulation of interleukin-6 production |
| regulation of protein dephosphorylation |
| positive regulation of cellular protein catabolic process |
| response to glucocorticoid |
| cellular response to starvation |
| regulation of ubiquitin-dependent protein catabolic process |
| sphingolipid metabolic process |
| macroautophagy |
| response to corticosteroid |
| negative regulation of MAPK cascade |
| trans-Golgi network |
| regulation of macroautophagy |
| regulation of mitochondrion organization |
| regulation of proteasomal protein catabolic process |
| organic hydroxy compound biosynthetic process |
| carbohydrate derivative catabolic process |
| response to starvation |
| response to ketone |
| ammonium ion metabolic process |
| cellular lipid catabolic process |
| lipid modification |
| membrane lipid metabolic process |
| negative regulation of neuron death |
| negative regulation of defense response |
| regulation of dephosphorylation |
| positive regulation of protein catabolic process |
| regulation of proteolysis involved in cellular protein catabolic process |
| negative regulation of protein kinase activity |
| cellular response to nutrient levels |
| cellular response to oxidative stress |
| cellular response to tumor necrosis factor |
| negative regulation of kinase activity |
| regulation of cellular protein catabolic process |
| lysosome |
| steroid metabolic process |
| process utilizing autophagic mechanism |
| autophagy |
| response to tumor necrosis factor |
| cellular response to extracellular stimulus |
| glycosylation |
| negative regulation of cytokine production |
| negative regulation of transferase activity |
| lipid catabolic process |
| response to xenobiotic stimulus |
| lysosomal membrane |
| regulation of neuron death |
| alcohol metabolic process |
| multicellular organismal homeostasis |
| response to steroid hormone |
| regulation of autophagy |
| signaling receptor binding |
| cellular response to external stimulus |
| regulation of inflammatory response |
| regulation of MAP kinase activity |
| positive regulation of proteolysis |
| positive regulation of cellular catabolic process |
| negative regulation of response to external stimulus |
| skin development |
| regulation of protein catabolic process |
| response to oxidative stress |
| negative regulation of protein phosphorylation |
| regulation of membrane potential |
| positive regulation of catabolic process |
| mitochondrion organization |
| negative regulation of phosphorylation |
| regulation of protein complex assembly |
| organic hydroxy compound metabolic process |
| regulation of body fluid levels |
| response to nutrient levels |
| negative regulation of intracellular signal transduction |
| regulation of protein serine/threonine kinase activity |
| amide biosynthetic process |
| response to extracellular stimulus |
| negative regulation of phosphate metabolic process |
| negative regulation of phosphorus metabolic process |
| lipid biosynthetic process |
| small molecule biosynthetic process |
| regulation of system process |
| negative regulation of protein modification process |
| positive regulation of organelle organization |
| neuron projection development |
| regulation of cytokine production |
| negative regulation of cellular component organization |
| regulation of proteolysis |
| regulation of MAPK cascade |
| regulation of defense response |
| cellular amide metabolic process |
| negative regulation of catalytic activity |
| regulation of protein kinase activity |
| neuron development |
| regulation of cellular catabolic process |
| response to lipid |
| regulation of kinase activity |
| response to hormone |
| response to organic cyclic compound |
| animal organ morphogenesis |
| cellular lipid metabolic process |
| regulation of cellular component biogenesis |
| regulation of transferase activity |
| Golgi apparatus |
| negative regulation of cell death |
| regulation of catabolic process |
| cellular response to cytokine stimulus |
| neuron differentiation |
| endoplasmic reticulum |
| response to drug |
| carbohydrate derivative metabolic process |
| negative regulation of cellular protein metabolic process |
| organonitrogen compound catabolic process |
| cell death |
| regulation of response to external stimulus |
| response to cytokine |
| negative regulation of protein metabolic process |
| chemical homeostasis |
| plasma membrane bounded cell projection organization |
| positive regulation of phosphorus metabolic process |
| positive regulation of phosphate metabolic process |
| negative regulation of molecular function |
| response to abiotic stimulus |
| cell projection organization |
| negative regulation of multicellular organismal process |
| positive regulation of cellular component organization |
| lipid metabolic process |
| positive regulation of protein modification process |
| negative regulation of signal transduction |
| regulation of organelle organization |
| negative regulation of cell communication |
| negative regulation of signaling |
| organonitrogen compound biosynthetic process |
| regulation of protein phosphorylation |
| response to endogenous stimulus |
| regulation of response to stress |
| generation of neurons |
| response to oxygen-containing compound |
| regulation of phosphorylation |
| positive regulation of cellular protein metabolic process |
| negative regulation of response to stimulus |
| neurogenesis |
| cellular nitrogen compound biosynthetic process |
| homeostatic process |
| cell development |
| regulation of cell death |
| cellular response to stress |
| positive regulation of protein metabolic process |
| positive regulation of multicellular organismal process |
| small molecule metabolic process |
| organic substance catabolic process |
| regulation of phosphate metabolic process |
| regulation of phosphorus metabolic process |
| cellular catabolic process |
| positive regulation of cell communication |
| positive regulation of signaling |
| regulation of intracellular signal transduction |
| regulation of protein modification process |
| positive regulation of macromolecule biosynthetic process |
| positive regulation of cellular biosynthetic process |
| positive regulation of biosynthetic process |
CRISPR Data
Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Compound Hit
| Screen | Score |
|---|---|
| GSK-J4 1μM R07 exp362 | -1.73 |
Most Correlated Genes in Chemogenomics
No correlation found to any other genes in chemogenomics.
Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Global Fraction of Cell Lines Where Essential: 0/739
| Tissue | Fraction Of Cell Lines Where Essential |
|---|---|
| 1290807.0 | 0/1 |
| 909776.0 | 0/1 |
| bile duct | 0/28 |
| blood | 0/28 |
| bone | 0/26 |
| breast | 0/33 |
| central nervous system | 0/56 |
| cervix | 0/4 |
| colorectal | 0/17 |
| esophagus | 0/13 |
| fibroblast | 0/1 |
| gastric | 0/16 |
| kidney | 0/21 |
| liver | 0/20 |
| lung | 0/75 |
| lymphocyte | 0/16 |
| ovary | 0/26 |
| pancreas | 0/24 |
| peripheral nervous system | 0/16 |
| plasma cell | 0/15 |
| prostate | 0/1 |
| skin | 0/24 |
| soft tissue | 0/9 |
| thyroid | 0/2 |
| upper aerodigestive | 0/22 |
| urinary tract | 0/29 |
| uterus | 0/5 |
Essentiality in NALM6
- Essentiality Rank: 9396
- Expression level (log2 read counts): 5.76
Expression Distribution
GBA Expression in NALM6 Cells: 5.76
