InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GBA2

Summary

InnateDB Protein

IDBP-63949.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GBA2

Protein Name

glucosidase, beta (bile acid) 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000367334

InnateDB Gene

IDBG-63945 (GBA2)

Protein Structure

UniProt Annotation

Function

Non-lysosomal glucosylceramidase that catalyzes the conversion of glucosylceramide (GlcCer) to free glucose and ceramide. Involved in sphingomyelin generation and prevention of glycolipid accumulation. May also catalyze the hydrolysis of bile acid 3-O-glucosides, however, the relevance of such activity is unclear in vivo. Plays a role in central nevous system development. Required for proper formation of motor neuron axons. {ECO:0000269PubMed:17105727, ECO:0000269PubMed:23332916}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Golgi apparatus membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Note=Not localized to lipid rafts. {ECO:0000269PubMed:17105727}.

Disease Associations

Spastic paraplegia 46, autosomal recessive (SPG46) [MIM:614409]: A neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging. {ECO:0000269PubMed:23332916, ECO:0000269PubMed:23332917}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed. Highly expressed in brain, heart, skeletal muscle, kidney and placenta and expressed at lower level in liver. {ECO:0000269PubMed:11489889}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	3 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0004348	glucosylceramidase activity
GO:0008422	beta-glucosidase activity

Biological Process

GO:0006665	sphingolipid metabolic process
GO:0006680	glucosylceramide catabolic process
GO:0006687	glycosphingolipid metabolic process
GO:0008206	bile acid metabolic process
GO:0008219	cell death
GO:0016139	glycoside catabolic process
GO:0021954	central nervous system neuron development
GO:0044281	small molecule metabolic process

Cellular Component

GO:0000139	Golgi membrane
GO:0005789	endoplasmic reticulum membrane
GO:0005790	smooth endoplasmic reticulum
GO:0005886	plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane

Protein Structure and Domains

PDB ID

InterPro

IPR006775 Glucosylceramidase
IPR008928 Six-hairpin glycosidase-like
IPR014551 Beta-glucosidase, GBA2 type
IPR024462 Beta-glucosidase, GBA2 type, N-terminal

PFAM

PF04685
PF12215

PRINTS

PIRSF

PIRSF028944

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9HCG7