InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Gba

Summary

InnateDB Gene

IDBG-163120.6

Last Modified

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

Gene Symbol

Gba

Gene Name

glucosidase, beta, acid

Synonyms

betaGC; GBA1; GC; GCase; GLUC

Species

Mus musculus

Ensembl Gene

ENSMUSG00000028048

Encoded Proteins

IDBP-163122

glucosidase, beta, acid

IDBP-621152

glucosidase, beta, acid

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000177628:
This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 3:89202928-89208681

Strand

Forward strand

Band

Transcripts

ENSMUST00000077367	ENSMUSP00000076589
ENSMUST00000167998	ENSMUSP00000130660

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 12 interaction(s) predicted by orthology.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	12 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004348	glucosylceramidase activity
GO:0005102	receptor binding
GO:0005515	protein binding

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006665	sphingolipid metabolic process
GO:0006680	glucosylceramide catabolic process
GO:0009268	response to pH
GO:0023021	termination of signal transduction
GO:0032715	negative regulation of interleukin-6 production
GO:0033561	regulation of water loss via skin
GO:0033574	response to testosterone
GO:0035307	positive regulation of protein dephosphorylation
GO:0043407	negative regulation of MAP kinase activity
GO:0043589	skin morphogenesis
GO:0043627	response to estrogen
GO:0046512	sphingosine biosynthetic process
GO:0046513	ceramide biosynthetic process
GO:0051384	response to glucocorticoid
GO:0071356	cellular response to tumor necrosis factor
GO:0097066	response to thyroid hormone