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GBA3 - glucosylceramidase beta 3 (gene/pseudogene) Gene

Also Known as CBG; GLUC; KLRP; CBGL1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57733

About GBA3

Cytogenetic location: 4p15.2 Genomic coordinates (GRCh38): 4:22,692,937-22,819,569 (from NCBI)

This gene has 5 transcripts (splice variants), 175 orthologues and 4 paralogues. Biased expression in duodenum (RPKM 80.7), small intestine (RPKM 79.2) and 3 other tissues.

Summary

The protein encoded by this gene is a cytosolic enzyme that can hydrolyze several types of glycosides. The enzyme has its highest activity at neutral pH and is predominantly expressed in human liver, kidney, intestine, and spleen. This gene is a polymorphic pseudogene, with the most common allele being the functional allele that encodes the full-length protein. Some individuals contain a single nucleotide polymorphism that results in a premature stop codon in the coding region, and therefore this allele is pseudogenic due to the failure to produce a functional full-length protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2022]

GBA3 Products (3)

mRNA	Protein	Name
NM_001128432.3	NP_001121904.1	cytosolic beta-glucosidase isoform b
NM_001277225.2	NP_001264154.1	cytosolic beta-glucosidase isoform c
NM_020973.5	NP_066024.1	cytosolic beta-glucosidase isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables beta-galactosidase activity	IDA IDA: Inferred from direct assay	11389701	GOA
enables beta-glucosidase activity	IDA IDA: Inferred from direct assay	11784319	GOA
enables galactosylceramidase activity	IDA IDA: Inferred from direct assay	17595169	GOA
enables glucosylceramidase activity	IDA IDA: Inferred from direct assay	26724485	GOA
enables glycosylceramidase activity	IDA IDA: Inferred from direct assay	17595169	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	26193330	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in beta-glucoside catabolic process	IDA IDA: Inferred from direct assay	11784319	GOA
involved in galactosylceramide catabolic process	IDA IDA: Inferred from direct assay	17595169	GOA
NOT involved in glucosylceramide catabolic process	IDA IDA: Inferred from direct assay	20728381	GOA
involved in glucosylceramide catabolic process	IDA IDA: Inferred from direct assay	26724485	GOA
involved in glucosylceramide catabolic process	IMP IMP: Inferred from mutant phenotype	17595169	GOA
involved in glycoside catabolic process	IDA IDA: Inferred from direct assay	11389701	GOA
involved in oligosaccharide catabolic process	IDA IDA: Inferred from direct assay	26193330	GOA
involved in positive regulation of exo-alpha-sialidase activity	IDA IDA: Inferred from direct assay	26193330	GOA
involved in protein stabilization	IDA IDA: Inferred from direct assay	26193330	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of catalytic complex	IDA IDA: Inferred from direct assay	26193330	GOA
located in cytosol	IDA IDA: Inferred from direct assay	17595169	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
cytosolic beta-glucosidase	cytosolic GCase

Recombinant GBA3 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71650	Cytosolic beta-Glucosidase/GBA3 Protein, Human (GST)	Q9H227-2 (M1-L162)	≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Gaucher'S Disease	Gaucher Disease Kerasin Thesaurismosis Glucocerebrosidase Deficiency Glucosylceramidase Deficiency Cerebroside Lipidosis Syndrome Acid Beta-Glucosidase Deficiency Glucosylceramide Beta-Glucosidase Deficiency Acute Cerebral Gaucher Disease Gaucher Splenomegaly Glucocerebrosidosis Glucosyl Cerebroside Lipidosis Kerasin Lipoidosis Lipoid Histiocytosis Glocucerebrosidase Deficiency Sphingolipidosis 1 Gaucher Syndrome Gauchers Disease Gd Glucosylceramide Lipidosis Kerasin Histiocytosis Gaucher Disease, Type 1 Gaucher Disease, Type 2

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05303	GBA3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27250	Gba3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GBA3	RGD	RGD:1309539
Felis catus	GBA3	VGNC	VGNC:78504
Canis familiaris	GBA3	VGNC	VGNC:53175
Bos taurus	GBA3	VGNC	VGNC:56338
Macaca mulatta	GBA3	VGNC	VGNC:100231
Others	GBA3	NCBI