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Standards Ontologies Notations
glucosylceramidase beta 1

Summary
Gene Symbol
  • Gba1
Organism
Mus musculus (house mouse)
NCBI Gene
14466
PubChem
14466
Alliance of Genome Resources
Annotation
Keyword
  • Cholesterol metabolism
  • Direct protein sequencing
  • Disulfide bond
  • Glycoprotein
  • Glycosidase
  • Glycosyltransferase
  • Lysosome
  • Membrane
  • Reference proteome
  • Signal
  • Sphingolipid metabolism
Proteins
Displaying 1 entry
UniProt Protein Name
P17439
  • Acid beta-glucosidase
  • Beta-glucocerebrosidase
  • Cholesterol glucosyltransferase
  • Cholesteryl-beta-glucosidase
  • D-glucosyl-N-acylsphingosine glucohydrolase
  • Lysosomal cholesterol glycosyltransferase
  • Lysosomal galactosylceramidase
  • Lysosomal glycosylceramidase
Annotation information from UniProt.
Gene Ontology (GO)
Gene Ontology information from NCBI Gene and UniProt.
OrthoDB (Group)
Group level
Rodentia
Group Name
lysosomal acid glucosylceramidase
Functional Category
  • K: Transcription
  • M: Cell wall/membrane/envelope biogenesis
  • O: Posttranslational modification, protein turnover, chaperones
Displaying all 7 entries
Gene Ontology
cholesterol metabolic process
glucosylceramidase activity
glucosylceramide catabolic process
hydrolase activity, acting on glycosyl bonds
hydrolase activity
lipid metabolic process
sphingolipid metabolic process
Displaying all 4 entries
InterPro
Glycoside hydrolase family 30
Glycoside hydrolase superfamily
Glycosyl hydrolase family 30, TIM-barrel domain
Glycosyl hydrolase family 30, beta sandwich domain
Rhea

RHEA:13269

H2O + a β-D-glucosyl-(1↔1ʼ)-N-acylsphing-4-enine
D-glucose + an N-acylsphing-4-enine
Enzyme
PMID

RHEA:14297

H2O + a β-D-galactosyl-(1↔1ʼ)-N-acylsphing-4-enine
D-galactose + an N-acylsphing-4-enine
Enzyme
PMID
Disease
Disease Ontology
Displaying entries 1 - 10 of 12 in total
DO ID Disease Name Source
DOID:0050474 Netherton syndrome
DOID:0060892 late onset Parkinson's disease
DOID:0080855 Parkinsonism
DOID:0110957 Gaucher's disease type I
DOID:0110958 Gaucher's disease type II
DOID:0110959 Gaucher's disease type III
DOID:0110960 Gaucher's disease perinatal lethal
DOID:0112250 Gaucher's disease type IIIC
DOID:12217 Lewy body dementia
DOID:14330 Parkinson's disease
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP002919
Gene Name
glucosidase, beta, acid
Ortholog
Displaying entries 131 - 132 of 132 in total
Species Gene ID OrthoDB Alliance of Genome Resources Orthologous MAtrix
131913186 42410_0:00214c
135272277 AOTNA39673
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024