glucosylceramidase beta 1

Summary
Gene Symbol
  • GBA1
Aliases
  • glucocerebrosidase
Organism
Homo sapiens (human)
External Links
NCBI Gene
2629
HGNC
4177
PubChem
2629
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative initiation
  • Alternative splicing
  • Cholesterol metabolism
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • Gaucher disease
  • Glycoprotein
  • Glycosidase
  • Glycosyltransferase
  • Ichthyosis
  • Lysosome
  • Membrane
  • Neurodegeneration
  • Parkinson disease
  • Parkinsonism
  • Pharmaceutical
  • Reference proteome
  • Signal
  • Sphingolipid metabolism
Proteins
Displaying all 3 entries
UniProt Protein Name
A0A068F658
P04062
  • Acid beta-glucosidase
  • Alglucerase
  • Beta-glucocerebrosidase
  • Beta-glucosylceramidase 1
  • Cholesterol glucosyltransferase
  • Cholesteryl-beta-glucosidase
  • D-glucosyl-N-acylsphingosine glucohydrolase
  • Glucosylceramidase beta 1
  • Imiglucerase
  • Lysosomal cholesterol glycosyltransferase
  • Lysosomal galactosylceramidase
  • Lysosomal glycosylceramidase
B7Z6S9
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000177628

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Disease
Disease Ontology
Displaying entries 1 - 10 of 245 in total
DO ID Disease Name Source
DOID:0060790 hypomyelinating leukodystrophy 3
DOID:0050474 Netherton syndrome
DOID:0050539 Charcot-Marie-Tooth disease type 2
DOID:0050635 alternating hemiplegia of childhood
DOID:0050745 diffuse large B-cell lymphoma
DOID:0050841 focal hand dystonia
DOID:0050873 follicular lymphoma
DOID:0060058 lymphoma
DOID:0060060 non-Hodgkin lymphoma
DOID:0060162 dentatorubral-pallidoluysian atrophy
The Human Phenotype Ontology
Displaying entries 1 - 10 of 244 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000007 Autosomal recessive inheritance
HP:0000012 Urinary urgency
HP:0000027 Azoospermia
HP:0000093 Proteinuria
HP:0000160 Narrow mouth
HP:0000194 Open mouth
HP:0000211 Trismus
HP:0000218 High palate
HP:0000225 Gingival bleeding
Displaying entries 1 - 10 of 13 in total
Disease ID Disease Name
OMIM:230800
  • Gaucher disease type I
ORPHA:77261
  • Gaucher disease type III
OMIM:231000
  • Gaucher disease type III
ORPHA:77259
  • Gaucher disease type I
OMIM:231005
  • Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
OMIM:230900
  • Gaucher disease type II
ORPHA:2072
  • Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
OMIM:608013
  • Gaucher disease perinatal lethal
ORPHA:77260
  • Gaucher disease type II
OMIM:127750
  • Lewy body dementia
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP000283
Gene Name
glucosidase, beta, acid

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024