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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	57733
Gene name	Glucosylceramidase beta 3 (gene/pseudogene)
Gene symbol	GBA3
Synonyms (NCBI Gene)	CBGCBGL1GLUCKLRP
Chromosome	4
Chromosome location	4p15.2
Summary	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

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX REGIONAL PAIN SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (18)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Cerebrovascular accident	Stroke	BEFREE	30029587		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	GWASCAT_DG	29551627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29703930	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	28614036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	29922157		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	28763121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	15322500, 20728381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gaucher Disease, Type 1	Gaucher Disease	BEFREE	20728381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	BEFREE	11161981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26193330		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11043382, 22479502, 29570629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	15187999, 15922866	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	28614036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papilloma Choroid Plexus	Choroid plexus papilloma	Pubtator	29703930	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	BEFREE	11161981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26193330		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26193330	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

GBA3 (glucosylceramidase beta 3 (gene/pseudogene))