GBA3 (glucosylceramidase beta 3 (gene/pseudogene))

Gene

• Entrez ID: 57733
• Gene name: Glucosylceramidase beta 3 (gene/pseudogene)
• Gene symbol: GBA3
• Synonyms (NCBI Gene): 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: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

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

• 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

Pathways

KEGG:

Starch and sucrose metabolism
Metabolic pathways

Reactome:

Glycosphingolipid metabolism