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QuickView for GBA (gene)


Gene Symbol:
GBA Homo sapiens Homo sapiens
Full name:
glucosylceramidase beta
Synonyms:
GBA1, GCB, GLUC, glucosylceramidase, D-glucosyl-N-acylsphingosine glucohydrolase, acid beta-glucosidase, alglucerase, beta-GC, beta-glucocerebrosidase, glucosidase, beta, acid, glucosylceramidase-like protein, imiglucerase, lysosomal glucocerebrosidase
Genomic Location:
Chr 1: 153470867-153481112
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...
Orthologs:
Mus musculus Rattus norvegicus C. elegans Pan troglodytes Bos taurus Danio rerio Canis lupus familiaris Gallus gallus
External Links:
Entrez Gene
Cytogenetic Map:
chr 1
1q22





GO Molecular Function

signaling receptor binding | hydrolase activity | hydrolase activity, hydrolyzing O-glycosyl compounds | catalytic activity | hydrolase activity, acting on glycosyl bonds | scavenger receptor binding | glucosylceramidase activity | protein binding

GO Biological Process

response to extracellular stimulus | negative regulation of phosphorylation | positive regulation of action potential | positive regulation of macromolecule biosynthetic process | regulation of dephosphorylation | response to nutrient levels | negative regulation of MAPK cascade | regulation of transmission of nerve impulse | response to cytokine | positive regulation of cellular component organization | glycosphingolipid metabolic process | macroautophagy | negative regulation of protein homooligomerization | regulation of autophagy | response to hormone | negative regulation of neuron death | glycolipid catabolic process | negative regulation of cellular process | negative regulation of kinase activity | regulation of MAP kinase activity | response to dexamethasone | cellular response to tumor necrosis factor | cell differentiation | positive regulation of proteasomal ubiquitin-dependent protein catabolic process | nervous system development | cellular response to extracellular stimulus | positive regulation of protein catabolic process | response to drug | negative regulation of protein phosphorylation | neurogenesis | polyol metabolic process | positive regulation of phosphate metabolic process | regulation of protein oligomerization | regulation of organelle organization | generation of neurons | regulation of neuron death | positive regulation of dephosphorylation | positive regulation of neurological system process | positive regulation of cellular biosynthetic process | cellular process | organic substance catabolic process | negative regulation of inflammatory response | negative regulation of signaling | neuron development | carbohydrate derivative catabolic process | positive regulation of lipoprotein metabolic process | sphingolipid metabolic process | cellular response to starvation | regulation of proteolysis | regulation of lysosomal protein catabolic process | positive regulation of nitrogen compound metabolic process | negative regulation of cellular metabolic process | regulation of neurological system process | regulation of cellular process | regulation of metabolic process | catabolic process | regulation of protein complex assembly | positive regulation of protein complex disassembly | positive regulation of cellular protein metabolic process | ceramide catabolic process | cellular component organization | cellular lipid metabolic process | positive regulation of autophagy of mitochondrion | positive regulation of cellular protein catabolic process | response to stimulus | skin morphogenesis | positive regulation of protein metabolic process | regulation of cellular protein catabolic process | response to stress | negative regulation of protein kinase activity | cellular nitrogen compound biosynthetic process | alcohol metabolic process | ceramide metabolic process | multicellular organismal homeostasis | glucosylceramide metabolic process | response to starvation | positive regulation of proteolysis involved in cellular protein catabolic process | sphingolipid biosynthetic process | positive regulation of proteolysis | negative regulation of protein oligomerization | cellular nitrogen compound metabolic process | regulation of macroautophagy | negative regulation of metabolic process | cellular biosynthetic process | mitochondrion organization | response to pH | positive regulation of protein dephosphorylation | positive regulation of mitochondrion organization | water homeostasis | regulation of membrane potential | organic hydroxy compound metabolic process | system development | cellular response to nutrient levels | nitrogen compound metabolic process | regulation of signal transduction | positive regulation of organelle organization | autophagosome organization | negative regulation of phosphate metabolic process | negative regulation of interleukin-6 production | multicellular organism development | negative regulation of catalytic activity | regulation of MAPK cascade | regulation of catalytic activity | regulation of protein serine/threonine kinase activity | lipid metabolic process | cellular response to oxidative stress | regulation of phosphorylation | regulation of protein complex disassembly | response to ketone | cellular response to stress | response to lipid | glycoside catabolic process | negative regulation of cytokine production | positive regulation of cellular metabolic process | animal organ morphogenesis | positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization | regulation of nitrogen compound metabolic process | small molecule metabolic process | negative regulation of protein serine/threonine kinase activity | glycosphingolipid catabolic process | response to corticosteroid | cellular amide metabolic process | regulation of neuronal action potential | response to oxidative stress | glycolipid metabolic process | cellular response to cytokine stimulus | biosynthetic process | diol biosynthetic process | regulation of cellular protein metabolic process | positive regulation of proteasomal protein catabolic process | lipid biosynthetic process | glycosylceramide metabolic process | membrane lipid catabolic process | positive regulation of protein lipidation | skin development | response to xenobiotic stimulus | vacuole organization | autophagy | regulation of mitochondrion organization | response to estrogen | cell communication | regulation of cellular metabolic process | regulation of protein kinase activity | response to testosterone | cellular lipid catabolic process | regulation of protein metabolic process | homeostatic process | regulation of protein phosphorylation | negative regulation of MAP kinase activity | regulation of autophagy of mitochondrion | regulation of proteasomal ubiquitin-dependent protein catabolic process | neuron differentiation | regulation of protein homooligomerization | positive regulation of protein modification process | response to organic substance | sphingosine biosynthetic process | sphingosine metabolic process | positive regulation of transmission of nerve impulse | sphingoid biosynthetic process | regulation of protein dephosphorylation | regulation of kinase activity | response to antineoplastic agent | regulation of intracellular signal transduction | negative regulation of intracellular signal transduction | anatomical structure development | cell projection organization | metabolic process | membrane lipid metabolic process | positive regulation of ubiquitin-dependent protein catabolic process | regulation of protein catabolic process | regulation of body fluid levels | regulation of proteasomal protein catabolic process | chemical homeostasis | glycoside metabolic process | neuron projection development | lipid catabolic process | negative regulation of protein complex assembly | organic substance metabolic process | regulation of water loss via skin | beta-glucoside catabolic process | cell death | animal organ development | negative regulation of cellular protein metabolic process | amide biosynthetic process | glucosylceramide catabolic process | regulation of phosphate metabolic process | positive regulation of autophagy | negative regulation of protein metabolic process | regulation of action potential | organonitrogen compound catabolic process | regulation of cell communication | response to mitochondrial depolarisation | negative regulation of molecular function | negative regulation of signal transduction | response to organic cyclic compound | cell development | regulation of cytokine production | anatomical structure morphogenesis | cell death in response to oxidative stress | developmental process | organelle organization | positive regulation of neuronal action potential | response to thyroid hormone | carbohydrate derivative metabolic process | multicellular organismal water homeostasis | sphingolipid catabolic process | positive regulation of metabolic process | regulation of lipoprotein metabolic process | cellular metabolic process | response to tumor necrosis factor | cellular response to organic substance | regulation of cell death | response to steroid hormone | ceramide biosynthetic process | negative regulation of cell death | regulation of interleukin-6 production | regulation of inflammatory response | regulation of ubiquitin-dependent protein catabolic process | termination of signal transduction | regulation of cellular component organization | positive regulation of signaling | regulation of signaling | response to glucocorticoid | glycosylceramide catabolic process | multicellular organismal process | regulation of phosphorus metabolic process

GO Cellular Component

intracellular membrane-bounded organelle | extrinsic component of membrane | organelle membrane | cell | vacuolar lumen | cytoplasm | intracellular organelle | vacuole | vesicle | extracellular exosome | lytic vacuole | extracellular region | membrane-bounded organelle | extracellular vesicle | organelle | lysosome | extracellular space | membrane-enclosed lumen | lysosomal lumen | intracellular | lysosomal membrane | membrane | vacuolar membrane