GBA

GENERAL INFORMATION

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Gene name

GBA

Gene description

Glucosidase, beta, acid

Protein class

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

Predicted localization

Intracellular,Secreted

Number of transcripts

4
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in most tissues often with granular pattern.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 3 antibodies.
HPA006667 , CAB037171 , CAB037289
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

2629

UniProt

P04062 (UniProt - Evidence at protein level)

neXtProt

NX_P04062

Antibodypedia

GBA antibodies


PROTEIN BROWSER

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ENST00000327247
 
ENST00000368373
 
ENST00000427500
 
ENST00000428024
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GBA-001 ENSP00000357357
ENST00000368373
P04062
Show all »
Show » Show » 536 59.7 Yes 0
GBA-002 ENSP00000314508
ENST00000327247
P04062
Show all »
Show » Show » 536 59.7 Yes 0
GBA-015 ENSP00000402577
ENST00000427500
P04062
Show all »
Show » Show » 487 54.5 Yes 0
GBA-016 ENSP00000397986
ENST00000428024
P04062
Show all »
Show » Show » 449 50.3 No 0