InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: GBA

Summary

InnateDB Gene

IDBG-103191.6

Last Modified

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

Gene Symbol

GBA

Gene Name

glucosidase, beta, acid

Synonyms

GBA1; GCB; GLUC

Species

Homo sapiens

Ensembl Gene

ENSG00000177628

Encoded Proteins

IDBP-103193

glucosidase, beta, acid

IDBP-103195

glucosidase, beta, acid

IDBP-388880

glucosidase, beta, acid

IDBP-388881

glucosidase, beta, acid

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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 1:155234452-155244699

Strand

Reverse strand

Band

q22

Transcripts

ENST00000327247	ENSP00000314508
ENST00000368373	ENSP00000357357
ENST00000427500	ENSP00000402577
ENST00000428024	ENSP00000397986
ENST00000464536
ENST00000478472
ENST00000484489
ENST00000491081
ENST00000497670
ENST00000460156
ENST00000493842
ENST00000473570
ENST00000467918
ENST00000470104

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	17 [view]
Protein-Protein	17 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [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:0006687	glycosphingolipid metabolic process
GO:0008219	cell death
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:0044281	small molecule metabolic process
GO:0046512	sphingosine biosynthetic process
GO:0046513	ceramide biosynthetic process
GO:0050728	negative regulation of inflammatory response
GO:0051384	response to glucocorticoid
GO:0071356	cellular response to tumor necrosis factor
GO:0097066	response to thyroid hormone

Cellular Component

GO:0005765	lysosomal membrane
GO:0043202	lysosomal lumen
GO:0070062	extracellular vesicular exosome

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000028048

View Gene Order

ENSBTAG00000014841

Not yet available

Pathways

NETPATH

REACTOME

REACT_116105

Glycosphingolipid metabolism pathway

REACT_19323

Sphingolipid metabolism pathway

REACT_22258

Metabolism of lipids and lipoproteins pathway

REACT_111217

Metabolism pathway

KEGG

hsa00600

Sphingolipid metabolism pathway

hsa00511

Other glycan degradation pathway

hsa04142

Lysosome pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.282997 Hs.676213 Hs.676613 Hs.679157

RefSeq

NM_000157 NM_001005741 NM_001005742 NM_001171811 NM_001171812 XM_006711270

HUGO

OMIM

CCDS

CCDS1102 CCDS53373 CCDS53374

HPRD

06973

IMGT

EMBL

GenPept

RNA Seq Atlas