GBA [The Human Chemical-Genetic Interaction Map Project]

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======= GBA =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: GBA
  * **<color #00a2e8>Official Name</color>**: glucosylceramidase beta
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2629|2629]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P04062|P04062]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=GBA&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20GBA|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**:  N/A

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**: N/A

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Glyco hydro 30|
</modal>

<modal id='GO_terms' size='lg' title='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|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp362|GSK-J4 1μM R07 exp362]]|-1.73|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='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|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 9396
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.76 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='GBA Expression in NALM6 Cells: 5.76'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>