GBA3 (glucosylceramidase beta 3 (gene/pseudogene))

Gene

• Entrez ID: 57733
• Gene name: Glucosylceramidase beta 3 (gene/pseudogene)
• Gene symbol: GBA3
• Synonyms: CBG, CBGL1, GLUC, KLRP
• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004336	Function	Galactosylceramidase activity	IDA	17595169
GO:0004348	Function	Glucosylceramidase activity	IDA	26724485
GO:0004348	Function	Glucosylceramidase activity	TAS
GO:0004565	Function	Beta-galactosidase activity	IBA	21873635
GO:0004565	Function	Beta-galactosidase activity	IDA	11389701, 17595169, 26193330
GO:0005515	Function	Protein binding	IPI	26193330
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	IDA	17595169, 20728381, 26193330
GO:0005829	Component	Cytosol	TAS
GO:0006680	Process	Glucosylceramide catabolic process	IDA	26724485
GO:0006680	Process	Glucosylceramide catabolic process	IDA	20728381
GO:0006680	Process	Glucosylceramide catabolic process	IMP	17595169
GO:0006683	Process	Galactosylceramide catabolic process	IDA	17595169
GO:0006687	Process	Glycosphingolipid metabolic process	TAS
GO:0008422	Function	Beta-glucosidase activity	IBA	21873635
GO:0008422	Function	Beta-glucosidase activity	IDA	11784319, 17595169, 20728381, 26193330
GO:0016139	Process	Glycoside catabolic process	IDA	11389701
GO:0017042	Function	Glycosylceramidase activity	IBA	21873635
GO:0017042	Function	Glycosylceramidase activity	IDA	17595169
GO:0046477	Process	Glycosylceramide catabolic process	IBA	21873635
GO:0050821	Process	Protein stabilization	IDA	26193330
GO:0051692	Process	Cellular oligosaccharide catabolic process	IDA	26193330
GO:0102483	Function	Scopolin beta-glucosidase activity	IEA
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

Other IDs

• MIM: 606619
• HGNC: 19069
• e!Ensembl: 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

• Sequence:

  MAFPAGFGWAAATAAYQVEGGWDADGKGPCVWDTFTHQGGERVFKNQTGDVACGSYTLWE
  EDLKCIKQLGLTHYRFSLSWSRLLPDGTTGFINQKGIDYYNKIIDDLLKNGVTPIVTLYH
  FDLPQTLEDQGGWLSEAIIESFDKYAQFCFSTFGDRVKQWITINEANVLSVMSYDLGMFP
  PGIPHFGTGGYQAAHNLIKAHARSWHSYDSLFRKKQKGMVSLSLFAVWLEPADPNSVSDQ
  EAAKRAITFHLDLFAKPIFIDGDYPEVVKSQIASMSQKQGYPSSRLPEFTEEEKKMIKGT
  ADFFAVQYYTTRLIKYQENKKGELGILQDAEIEFFPDPSWKNVDWIYVVPWGVCKLLKYI
  KDTYNNPVIYITENGFPQSDPAPLDDTQRWEYFRQTFQELFKAIQLDKVNLQVYCAWSLL
  DNFEWNQGYSSRFGLFHVDFEDPARPRVPYTSAKEYAKIIRNNGLEAHL

• Sequence length: 469

Pathways

KEGG:

Starch and sucrose metabolism
Metabolic pathways

Reactome:

Glycosphingolipid metabolism

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Asthma	Childhood asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283	29551627

Unknown
Disease name	Disease term	dbSNP ID	References
Liver carcinoma	Liver carcinoma		28284560