Entity Details

Primary name GLCM_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP04062
EntryNameGLCM_HUMAN
FullNameLysosomal acid glucosylceramidase
TaxID9606
Evidenceevidence at protein level
Length536
SequenceStatuscomplete
DateCreated1986-11-01
DateModified2021-06-02

Ontological Relatives

GenesGBA

GO terms

Show/Hide Table
GOName
GO:0004348 glucosylceramidase activity
GO:0005102 signaling receptor binding
GO:0005124 scavenger receptor binding
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005802 trans-Golgi network
GO:0006680 glucosylceramide catabolic process
GO:0006687 glycosphingolipid metabolic process
GO:0006914 autophagy
GO:0007040 lysosome organization
GO:0008203 cholesterol metabolic process
GO:0008340 determination of adult lifespan
GO:0009267 cellular response to starvation
GO:0009268 response to pH
GO:0014004 microglia differentiation
GO:0016241 regulation of macroautophagy
GO:0019882 antigen processing and presentation
GO:0019898 extrinsic component of membrane
GO:0019915 lipid storage
GO:0021694 cerebellar Purkinje cell layer formation
GO:0021859 pyramidal neuron differentiation
GO:0023021 termination of signal transduction
GO:0030259 lipid glycosylation
GO:0031333 negative regulation of protein-containing complex assembly
GO:0032006 regulation of TOR signaling
GO:0032268 regulation of cellular protein metabolic process
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0032715 negative regulation of interleukin-6 production
GO:0033077 T cell differentiation in thymus
GO:0033561 regulation of water loss via skin
GO:0033574 response to testosterone
GO:0035307 positive regulation of protein dephosphorylation
GO:0043202 lysosomal lumen
GO:0043243 positive regulation of protein-containing complex disassembly
GO:0043407 negative regulation of MAP kinase activity
GO:0043524 negative regulation of neuron apoptotic process
GO:0043589 skin morphogenesis
GO:0043627 response to estrogen
GO:0046512 sphingosine biosynthetic process
GO:0046513 ceramide biosynthetic process
GO:0046527 glucosyltransferase activity
GO:0048469 cell maturation
GO:0048854 brain morphogenesis
GO:0048872 homeostasis of number of cells
GO:0050295 steryl-beta-glucosidase activity
GO:0050728 negative regulation of inflammatory response
GO:0050905 neuromuscular process
GO:0051247 positive regulation of protein metabolic process
GO:0051402 neuron apoptotic process
GO:0061518 microglial cell proliferation
GO:0061744 motor behavior
GO:0070062 extracellular exosome
GO:0071356 cellular response to tumor necrosis factor
GO:0071425 hematopoietic stem cell proliferation
GO:0071548 response to dexamethasone
GO:0072676 lymphocyte migration
GO:0097066 response to thyroid hormone
GO:1901215 negative regulation of neuron death
GO:1901805 beta-glucoside catabolic process
GO:1903052 positive regulation of proteolysis involved in cellular protein catabolic process
GO:1903061 positive regulation of protein lipidation
GO:1904457 positive regulation of neuronal action potential
GO:1904925 positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization
GO:1905037 autophagosome organization
GO:1905165 regulation of lysosomal protein catabolic process

Subcellular Location

Show/Hide Table
Subcellular Location
Lysosome membrane

Domains

Show/Hide Table
DomainNameCategoryType
IPR001139 Glycoside hydrolase family 30FamilyFamily
IPR013780 Glycosyl hydrolase, all-betaFamilyHomologous superfamily
IPR017853 Glycoside hydrolase superfamilyFamilyHomologous superfamily
IPR033452 Glycosyl hydrolase family 30, beta sandwich domainDomainDomain
IPR033453 Glycosyl hydrolase family 30, TIM-barrel domainDomainDomain

Diseases

Show/Hide Table
Disease IDSourceNameDescription
231005 OMIMGaucher disease 3C (GD3C)A variant of subacute neuronopathic Gaucher disease 3 associated with cardiovascular calcifications. The disease is caused by variants affecting the gene represented in this entry.
230800 OMIMGaucher disease (GD)A lysosomal storage disease due to deficient activity of beta-glucocerebrosidase and characterized by accumulation of glucosylceramide in the reticulo-endothelial system. Different clinical forms are recognized depending on the presence (neuronopathic forms) or absence of central nervous system involvement, severity and age of onset. The disease is caused by variants affecting the gene represented in this entry.
230800 OMIMGaucher disease (GD)A lysosomal storage disease due to deficient activity of beta-glucocerebrosidase and characterized by accumulation of glucosylceramide in the reticulo-endothelial system. Different clinical forms are recognized depending on the presence (neuronopathic forms) or absence of central nervous system involvement, severity and age of onset. The disease is caused by variants affecting the gene represented in this entry.
230900 OMIMGaucher disease 2 (GD2)The most severe form of Gaucher disease. It manifests soon after birth, with death generally occurring before patients reach two years of age. The disease is caused by variants affecting the gene represented in this entry.
231000 OMIMGaucher disease 3 (GD3)A subacute form of neuronopathic Gaucher disease. It has later onset and slower progression compared to the acute form of neuronopathic Gaucher disease 2. The disease is caused by variants affecting the gene represented in this entry.
608013 OMIMGaucher disease perinatal lethal (GDPL)Distinct form of Gaucher disease type 2, characterized by fetal onset. Hydrops fetalis, in utero fetal death and neonatal distress are prominent features. When hydrops is absent, neurologic involvement begins in the first week and leads to death within 3 months. Hepatosplenomegaly is a major sign, and is associated with ichthyosis, arthrogryposis, and facial dysmorphism. The disease is caused by variants affecting the gene represented in this entry. Perinatal lethal Gaucher disease is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders.
168600 OMIMParkinson disease (PARK)A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features. Disease susceptibility may be associated with variants affecting the gene represented in this entry.

Drugs

Show/Hide Table
DrugNameSourceType
DB03106 scyllo-inositolDrugbanksmall molecule
DB03740 N-acetyl-alpha-D-glucosamineDrugbanksmall molecule
DB06720 Velaglucerase alfaDrugbankbiotech
DB08283 (2R,3R,4R,5S)-2-(HYDROXYMETHYL)-1-NONYLPIPERIDINE-3,4,5-TRIOLDrugbanksmall molecule