Fields »
ABOUT
HELP
BLOG
GBA

CANCER ATLAS

Gene description

 Glucosidase, beta, acid

Protein class

 Disease related genes, Enzymes, Potential drug targets, Predicted intracellular proteins, Predicted secreted proteins

Protein evidence

 Evidence at protein level
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Urothelial cancer

STAINING SUMMARY
HPA006667
CAB037171
CAB037289

GENE INFORMATION

Gene name

 GBA (HGNC Symbol)

Synonyms

 GBA1, GLUC

Description

 Glucosidase, beta, acid (HGNC Symbol)

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]

Chromosome

 1

Cytoband

 q22

Chromosome location (bp)

 155234452 - 155244699

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000177628 (version 83.38)

Entrez gene

 2629

UniProt

 P04062 (UniProt - Evidence at protein level)

neXtProt

 NX_P04062

Antibodypedia

 GBA antibodies

PROTEIN BROWSER
GBA-001
GBA-002
GBA-015
GBA-016

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
GBA-001
ENSP00000357357
ENST00000368373
P04062 [Direct mapping]
Glucosylceramidase
A0A068F658 [Target identity:100%; Query identity:100%]
Glucosylceramidase
Show all
Enzymes
   ENZYME proteins
   Hydrolases
   MEMSAT3 predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004348 [glucosylceramidase activity]
GO:0005102 [receptor binding]
GO:0005515 [protein binding]
GO:0005765 [lysosomal membrane]
GO:0005975 [carbohydrate metabolic process]
GO:0006665 [sphingolipid metabolic process]
GO:0006680 [glucosylceramide catabolic process]
GO:0006687 [glycosphingolipid metabolic process]
GO:0023021 [termination of signal transduction]
GO:0032715 [negative regulation of interleukin-6 production]
GO:0035307 [positive regulation of protein dephosphorylation]
GO:0043202 [lysosomal lumen]
GO:0043407 [negative regulation of MAP kinase activity]
GO:0044281 [small molecule metabolic process]
GO:0046512 [sphingosine biosynthetic process]
GO:0046513 [ceramide biosynthetic process]
GO:0050728 [negative regulation of inflammatory response]
GO:0070062 [extracellular exosome]
GO:0071356 [cellular response to tumor necrosis factor]
GO:1903052 [positive regulation of proteolysis involved in cellular protein catabolic process]
Show all
 536 aa
59.7 kDa 		Yes 0
GBA-002
ENSP00000314508
ENST00000327247
P04062 [Direct mapping]
Glucosylceramidase
A0A068F658 [Target identity:100%; Query identity:100%]
Glucosylceramidase
Show all
Enzymes
   ENZYME proteins
   Hydrolases
   MEMSAT3 predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004348 [glucosylceramidase activity]
GO:0005102 [receptor binding]
GO:0005515 [protein binding]
GO:0005765 [lysosomal membrane]
GO:0005975 [carbohydrate metabolic process]
GO:0006665 [sphingolipid metabolic process]
GO:0006680 [glucosylceramide catabolic process]
GO:0006687 [glycosphingolipid metabolic 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:0043202 [lysosomal lumen]
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:0070062 [extracellular exosome]
GO:0071356 [cellular response to tumor necrosis factor]
GO:0097066 [response to thyroid hormone]
GO:1903052 [positive regulation of proteolysis involved in cellular protein catabolic process]
Show all
 536 aa
59.7 kDa 		Yes 0
GBA-015
ENSP00000402577
ENST00000427500
P04062 [Direct mapping]
Glucosylceramidase
Show all
Enzymes
   ENZYME proteins
   Hydrolases
   MEMSAT3 predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004348 [glucosylceramidase activity]
GO:0005102 [receptor binding]
GO:0005515 [protein binding]
GO:0005765 [lysosomal membrane]
GO:0005975 [carbohydrate metabolic process]
GO:0006665 [sphingolipid metabolic process]
GO:0006680 [glucosylceramide catabolic process]
GO:0006687 [glycosphingolipid metabolic process]
GO:0023021 [termination of signal transduction]
GO:0032715 [negative regulation of interleukin-6 production]
GO:0035307 [positive regulation of protein dephosphorylation]
GO:0043202 [lysosomal lumen]
GO:0043407 [negative regulation of MAP kinase activity]
GO:0044281 [small molecule metabolic process]
GO:0046512 [sphingosine biosynthetic process]
GO:0046513 [ceramide biosynthetic process]
GO:0050728 [negative regulation of inflammatory response]
GO:0070062 [extracellular exosome]
GO:0071356 [cellular response to tumor necrosis factor]
GO:1903052 [positive regulation of proteolysis involved in cellular protein catabolic process]
Show all
 487 aa
54.5 kDa 		Yes 0
GBA-016
ENSP00000397986
ENST00000428024
P04062 [Direct mapping]
Glucosylceramidase
Show all
Enzymes
   ENZYME proteins
   Hydrolases
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004348 [glucosylceramidase activity]
GO:0005102 [receptor binding]
GO:0005515 [protein binding]
GO:0005765 [lysosomal membrane]
GO:0005975 [carbohydrate metabolic process]
GO:0006665 [sphingolipid metabolic process]
GO:0006680 [glucosylceramide catabolic process]
GO:0006687 [glycosphingolipid metabolic process]
GO:0023021 [termination of signal transduction]
GO:0032715 [negative regulation of interleukin-6 production]
GO:0035307 [positive regulation of protein dephosphorylation]
GO:0043202 [lysosomal lumen]
GO:0043407 [negative regulation of MAP kinase activity]
GO:0044281 [small molecule metabolic process]
GO:0046512 [sphingosine biosynthetic process]
GO:0046513 [ceramide biosynthetic process]
GO:0050728 [negative regulation of inflammatory response]
GO:0070062 [extracellular exosome]
GO:0071356 [cellular response to tumor necrosis factor]
GO:1903052 [positive regulation of proteolysis involved in cellular protein catabolic process]
Show all
 449 aa
50.3 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.