Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	57733
Gene name Gene Name - the full gene name approved by the HGNC.	Glucosylceramidase beta 3 (gene/pseudogene)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GBA3
Synonyms (NCBI Gene) Gene synonyms aliases	CBG, CBGL1, GLUC, KLRP
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4p15.2
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is an enzyme that can hydrolyze several types of glycosides. This gene is a polymorphic pseudogene, with the most common allele being the functional allele that encodes the full-length protein. Some individuals, as represe

Show/Hide all(14)

miRTarBase ID	miRNA	Experiments
MIRT1013695	hsa-miR-1246	CLIP-seq
MIRT1013696	hsa-miR-3668	CLIP-seq
MIRT1013697	hsa-miR-4717-3p	CLIP-seq
MIRT1013698	hsa-miR-203	CLIP-seq
MIRT1013699	hsa-miR-653	CLIP-seq
MIRT2000271	hsa-miR-4795-3p	CLIP-seq
MIRT2233645	hsa-miR-1236	CLIP-seq
MIRT2233646	hsa-miR-140-5p	CLIP-seq
MIRT2233647	hsa-miR-3545-5p	CLIP-seq
MIRT2233648	hsa-miR-4460	CLIP-seq
MIRT2233649	hsa-miR-4727-3p	CLIP-seq
MIRT2233650	hsa-miR-4753-3p	CLIP-seq
MIRT2233651	hsa-miR-4768-5p	CLIP-seq
MIRT2450123	hsa-miR-4477a	CLIP-seq

Show/Hide all(37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004336	Function	Galactosylceramidase activity	IDA	17595169
GO:0004336	Function	Galactosylceramidase activity	IEA
GO:0004348	Function	Glucosylceramidase activity	IDA	26724485
GO:0004348	Function	Glucosylceramidase activity	IEA
GO:0004348	Function	Glucosylceramidase activity	TAS
GO:0004553	Function	Hydrolase activity, hydrolyzing O-glycosyl compounds	IEA
GO:0004565	Function	Beta-galactosidase activity	IBA
GO:0004565	Function	Beta-galactosidase activity	IDA	11389701, 17595169, 26193330
GO:0005515	Function	Protein binding	IPI	26193330
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	17595169, 20728381, 26193330
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006680	Process	Glucosylceramide catabolic process	IDA	20728381
GO:0006680	Process	Glucosylceramide catabolic process	IDA	26724485
GO:0006680	Process	Glucosylceramide catabolic process	IMP	17595169
GO:0006683	Process	Galactosylceramide catabolic process	IDA	17595169
GO:0008422	Function	Beta-glucosidase activity	IBA
GO:0008422	Function	Beta-glucosidase activity	IDA	11784319, 17595169, 20728381, 26193330
GO:0008422	Function	Beta-glucosidase activity	IEA
GO:0009313	Process	Oligosaccharide catabolic process	IDA	26193330
GO:0016020	Component	Membrane	IEA
GO:0016052	Process	Carbohydrate catabolic process	IEA
GO:0016139	Process	Glycoside catabolic process	IDA	11389701
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0017042	Function	Glycosylceramidase activity	IBA
GO:0017042	Function	Glycosylceramidase activity	IDA	17595169
GO:0046477	Process	Glycosylceramide catabolic process	IBA
GO:0046479	Process	Glycosphingolipid catabolic process	TAS
GO:0050821	Process	Protein stabilization	IDA	26193330
GO:1901805	Process	Beta-glucoside catabolic process	IDA	11784319
GO:1902494	Component	Catalytic complex	IDA	26193330
GO:1903017	Process	Positive regulation of exo-alpha-sialidase activity	IDA	26193330

MIM	HGNC	e!Ensembl
606619	19069	ENSG00000249948

Protein

UniProt ID

Q9H227

Protein name

Cytosolic beta-glucosidase (EC 3.2.1.21) (Cytosolic beta-glucosidase-like protein 1) (Cytosolic galactosylceramidase) (EC 3.2.1.46) (Cytosolic glucosylceramidase) (EC 3.2.1.45) (Cytosolic glycosylceramidase) (Cytosolic GCase) (Glucosidase beta acid 3) (Gl

Protein function

Neutral cytosolic beta-glycosidase with a broad substrate specificity that could play a role in the catabolism of glycosylceramides (PubMed:11389701, PubMed:11784319, PubMed:17595169, PubMed:20728381, PubMed:26724485, PubMed:33361282). Has a sig

PDB

2E9L , 2E9M , 2JFE , 2ZOX , 3VKK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00232	Glyco_hydro_1	1 → 465	Glycosyl hydrolase family 1	Domain

Tissue specificity

TISSUE SPECIFICITY: Present in small intestine (at protein level). Expressed in liver, small intestine, colon, spleen and kidney. Down-regulated in renal cell carcinomas and hepatocellular carcinomas. {ECO:0000269|PubMed:11043382, ECO:0000269|PubMed:12594

Sequence

MAFPAGFGWAAATAAYQVEGGWDADGKGPCVWDTFTHQGGERVFKNQTGDVACGSYTLWE
EDLKCIKQLGLTHYRFSLSWSRLLPDGTTGFINQKGIDYYNKIIDDLLKNGVTPIVTLYH
FDLPQTLEDQGGWLSEAIIESFDKYAQFCFSTFGDRVKQWITINEANVLSVMSYDLGMFP
PGIPHFGTGGYQAAHNLIKAHARSWHSYDSLFRKKQKGMVSLSLFAVWLEPADPNSVSDQ
EAAKRAITFHLDLFAKPIFIDGDYPEVVKSQIASMSQKQGYPSSRLPEFTEEEKKMIKGT
ADFFAVQYYTTRLIKYQENKKGELGILQDAEIEFFPDPSWKNVDWIYVVPWGVCKLLKYI
KDTYNNPVIYITENGFPQSDPAPLDDTQRWEYFRQTFQELFKAIQLDKVNLQVYCAWSLL
DNFEWNQGYSSRFGLFHVDFEDPARPRVPYTSAKEYAKIIRNNGLEAHL

Sequence length

469

Interactions

View interactions

	KEGG		Reactome
	Starch and sucrose metabolism Metabolic pathways		Glycosphingolipid metabolism

Show/Hide Unknown Diseases (5)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alzheimer disease	Alzheimer's disease or gastroesophageal reflux disease	N/A	N/A	GWAS
Ankylosing Spondylitis	Ankylosing spondylitis	N/A	N/A	GWAS
Glioblastoma	Glioblastoma	N/A	N/A	GWAS
Psoriasis	Psoriasis	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Anorectal Malformations	Associate	29703930
Colorectal Neoplasms	Associate	29703930
Neuroblastoma	Associate	15187999, 15922866
Papilloma Choroid Plexus	Associate	29703930
Stomach Neoplasms	Associate	26193330

GBA3 (glucosylceramidase beta 3 (gene/pseudogene))