The protein encoded by this gene is an enzyme that can hydrolyze several types of glycosides. This gene is a polymorphic pseudogene, with the most common allele being the functional allele that encodes the full-length protein. Some individuals, as represented by the reference genome allele, contain a single nucleotide polymorphism that results in a premature stop codon in the c... See more...

Aliases for GBA3 Gene

Aliases for GBA3 Gene

  • Glucosylceramidase Beta 3 (Gene/Pseudogene) 2 3 5
  • Klotho-Related Protein 2 3 4
  • Cytosolic Beta-Glucosidase-Like Protein 1 3 4
  • Glucosidase, Beta, Acid 3 (Cytosolic) 2 3
  • Cytosolic Glycosylceramidase 3 4
  • Cytosolic Beta-Glucosidase 3 4
  • Glucosidase Beta Acid 3 3 4
  • Cytosolic GCase 3 4
  • EC 3.2.1.21 4 54
  • CBGL1 3 4
  • CBG 3 4
  • Glucosidase, Beta, Acid 3 (Gene/Pseudogene) 2
  • Glucosylceramidase Beta 3 4
  • GLUC 3
  • KLRP 3
  • KLrP 4

External Ids for GBA3 Gene

Previous GeneCards Identifiers for GBA3 Gene

  • GC04P022777
  • GC04P022382
  • GC04P022445
  • GC04P022370
  • GC04P022303
  • GC04P022039

Summaries for GBA3 Gene

Entrez Gene Summary for GBA3 Gene

  • The protein encoded by this gene is an enzyme that can hydrolyze several types of glycosides. This gene is a polymorphic pseudogene, with the most common allele being the functional allele that encodes the full-length protein. Some individuals, as represented by the reference genome allele, contain a single nucleotide polymorphism that results in a premature stop codon in the coding region, and therefore this allele is pseudogenic due to the failure to produce a functional full-length protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2013]

GeneCards Summary for GBA3 Gene

GBA3 (Glucosylceramidase Beta 3 (Gene/Pseudogene)) is a Protein Coding gene. Diseases associated with GBA3 include Gaucher Disease, Type I. Among its related pathways are Galactose metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity, hydrolyzing O-glycosyl compounds and beta-glucosidase activity. An important paralog of this gene is LCT.

UniProtKB/Swiss-Prot Summary for GBA3 Gene

  • Neutral cytosolic beta-glycosidase with a broad substrate specificity that could play a role in the catabolism of glycosylceramides (PubMed:11389701, PubMed:11784319, PubMed:20728381, PubMed:26724485, PubMed:17595169). Has a significant glucosylceramidase activity in vitro (PubMed:26724485, PubMed:17595169). However, that activity is relatively low and its significance in vivo is not clear (PubMed:26724485, PubMed:17595169, PubMed:20728381). Also able to hydrolyze galactosylceramide/GalCer, glucosylsphingosine/GlcSph and galactosylsphingosine/GalSph (PubMed:17595169). However, the in vivo relevance of these activities is unclear (PubMed:17595169). It can also hydrolyze a broad variety of dietary glycosides including phytoestrogens, flavonols, flavones, flavanones and cyanogens in vitro and could therefore play a role in the metabolism of xenobiotics (PubMed:11784319). Could also play a role in the catabolism of cytosolic sialyl free N-glycans (PubMed:26193330).

Tocris Summary for GBA3 Gene

  • Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two glucosidase subtypes, both found in the gut. They hydrolyze terminal (1,4)alpha-glucosidic linkages and (1,6)beta-glucosidic linkages, liberating alpha-glucose and beta-glucose.

Gene Wiki entry for GBA3 Gene

Additional gene information for GBA3 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GBA3 Gene

Genomics for GBA3 Gene

GeneHancer (GH) Regulatory Elements for GBA3 Gene

Promoters and enhancers for GBA3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J022692 Enhancer 0.5 ENCODE 761.4 +0.5 532 2.1 RAD21 SP1 CEBPA JUND YY1 FOXP1 HNF4A RXRA GBA3 lnc-PACRGL-11 lnc-PACRGL-12 RF00017-4276
GH04J022695 Enhancer 0.5 ENCODE 10.9 +3.4 3364 2 RAD21 SP1 RXRA YY1 GABPA HNF4A MAX ATF3 TAF1 GBA3 lnc-PACRGL-11 lnc-PACRGL-12 RF00017-4276
GH04J022685 Enhancer 0.3 ENCODE 10.5 -6.5 -6548 1.1 MNT ADGRA3 GBA3 LOC105374520 lnc-PACRGL-12 RF00017-4276
GH04J022782 Enhancer 0.3 Ensembl 8.5 +89.7 89687 0.4 IKZF1 GBA3 piR-40348-035 NONHSAG037614.2 lnc-SOD3-13 RF00017-4276
GH04J022787 Enhancer 0.2 Ensembl 8.2 +95.2 95187 1.8 GBA3 piR-40348-035 NONHSAG037614.2 lnc-SOD3-13 RF00017-4276
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GBA3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GBA3 gene promoter:
  • AML1a
  • E4BP4
  • FOXL1
  • Hlf
  • Sox9

Genomic Locations for GBA3 Gene

Genomic Locations for GBA3 Gene
chr4:22,692,914-22,819,575
(GRCh38/hg38)
Size:
126,662 bases
Orientation:
Plus strand
chr4:22,694,537-22,821,198
(GRCh37/hg19)
Size:
126,662 bases
Orientation:
Plus strand

Genomic View for GBA3 Gene

Genes around GBA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GBA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GBA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GBA3 Gene

Proteins for GBA3 Gene

  • Protein details for GBA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H227-GBA3_HUMAN
    Recommended name:
    Cytosolic beta-glucosidase
    Protein Accession:
    Q9H227
    Secondary Accessions:
    • Q32LY7
    • Q3MIH4
    • Q53GG8
    • Q6NSF4
    • Q8NHT8
    • Q9H3T4
    • Q9H4C6

    Protein attributes for GBA3 Gene

    Size:
    469 amino acids
    Molecular mass:
    53696 Da
    Quaternary structure:
    • May interact with NEU2.

    Three dimensional structures from OCA and Proteopedia for GBA3 Gene

    Alternative splice isoforms for GBA3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GBA3 Gene

Selected DME Specific Peptides for GBA3 Gene

Q9H227:
  • WSLLDNFEW
  • YNNPVIYITENG

Post-translational modifications for GBA3 Gene

Other Protein References for GBA3 Gene

Antibody Products

  • Boster Bio Antibodies for GBA3

Domains & Families for GBA3 Gene

Gene Families for GBA3 Gene

Protein Domains for GBA3 Gene

Suggested Antigen Peptide Sequences for GBA3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ93688, Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), mRNA (A8K9N1_HUMAN)
  • Cytosolic beta-glucosidase-like protein 1 (GBA3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H227

UniProtKB/Swiss-Prot:

GBA3_HUMAN :
  • Belongs to the glycosyl hydrolase 1 family. Klotho subfamily.
Family:
  • Belongs to the glycosyl hydrolase 1 family. Klotho subfamily.
genes like me logo Genes that share domains with GBA3: view

Function for GBA3 Gene

Molecular function for GBA3 Gene

UniProtKB/Swiss-Prot Function:
Neutral cytosolic beta-glycosidase with a broad substrate specificity that could play a role in the catabolism of glycosylceramides (PubMed:11389701, PubMed:11784319, PubMed:20728381, PubMed:26724485, PubMed:17595169). Has a significant glucosylceramidase activity in vitro (PubMed:26724485, PubMed:17595169). However, that activity is relatively low and its significance in vivo is not clear (PubMed:26724485, PubMed:17595169, PubMed:20728381). Also able to hydrolyze galactosylceramide/GalCer, glucosylsphingosine/GlcSph and galactosylsphingosine/GalSph (PubMed:17595169). However, the in vivo relevance of these activities is unclear (PubMed:17595169). It can also hydrolyze a broad variety of dietary glycosides including phytoestrogens, flavonols, flavones, flavanones and cyanogens in vitro and could therefore play a role in the metabolism of xenobiotics (PubMed:11784319). Could also play a role in the catabolism of cytosolic sialyl free N-glycans (PubMed:26193330).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine + H2O = an N-acylsphing-4-enine + D-glucose; Xref=Rhea:RHEA:13269, ChEBI:CHEBI:4167, ChEBI:CHEBI:15377, ChEBI:CHEBI:22801, ChEBI:CHEBI:52639; Evidence={ECO:0000269 PubMed:17595169, ECO:0000269 PubMed:26724485}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:13270; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=beta-D-glucosyl-(1<->1)-sphing-4-enine + H2O = D-glucose + sphing-4-enine; Xref=Rhea:RHEA:59288, ChEBI:CHEBI:4167, ChEBI:CHEBI:15377, ChEBI:CHEBI:57756, ChEBI:CHEBI:83992; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:59289; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=beta-D-glucosyl-(1<->1)-N-octadecanoylsphing-4-enine + H2O = D-glucose + N-octadecanoylsphing-4-enine; Xref=Rhea:RHEA:59284, ChEBI:CHEBI:4167, ChEBI:CHEBI:15377, ChEBI:CHEBI:72961, ChEBI:CHEBI:84719; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:59285; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine + H2O = an N-acylsphing-4-enine + D-galactose; Xref=Rhea:RHEA:14297, ChEBI:CHEBI:4139, ChEBI:CHEBI:15377, ChEBI:CHEBI:18390, ChEBI:CHEBI:52639; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:14298; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=beta-D-galactosyl-(1<->1)-sphing-4-enine + H2O = D-galactose + sphing-4-enine; Xref=Rhea:RHEA:43908, ChEBI:CHEBI:4139, ChEBI:CHEBI:15377, ChEBI:CHEBI:57756, ChEBI:CHEBI:57934; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:43909; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=beta-D-galactosyl-(1<->1)-N-octadecanoylsphing-4-enine + H2O = D-galactose + N-octadecanoylsphing-4-enine; Xref=Rhea:RHEA:59292, ChEBI:CHEBI:4139, ChEBI:CHEBI:15377, ChEBI:CHEBI:72961, ChEBI:CHEBI:84720; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:59293; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Hydrolysis of terminal, non-reducing beta-D-glucosyl residues with release of beta-D-glucose.; EC=3.2.1.21; Evidence={ECO:0000269 PubMed:11389701, ECO:0000269 PubMed:11784319, ECO:0000269 PubMed:20728381};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by 2,4-dinitrophenyl-2-fluoro-2-deoxy-beta-D-glucopyranoside (PubMed:11784319). Inhibited by sodium taurocholate (PubMed:11389701). Inhibited by alpha-1-C-nonyl-DIX/AnDIX (PubMed:20728381). The glucosylceramidase activity is slightly inhibited by conduritol B epoxide/CBE while the galactosylceramidase activity is not (PubMed:17595169).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=13.67 uM for glucosylceramide (at 37 degrees Celsius and pH 6.0) {ECO:0000269 PubMed:17595169}; KM=9.24 uM for galactosylceramide (at 37 degrees Celsius and pH 6.0) {ECO:0000269 PubMed:17595169}; KM=4.64 uM for C6-NBD-glucosylceramide (at 37 degrees Celsius and pH 6.0) {ECO:0000269 PubMed:17595169}; KM=2.04 uM for C6-NBD-galactosylceramide (at 37 degrees Celsius and pH 6.0) {ECO:0000269 PubMed:17595169}; KM=40 uM for 4-methylumbelliferyl-beta-D-glucopyranoside (at 37 degrees Celsius and pH 5.5) {ECO:0000269 PubMed:11389701}; KM=49.28 uM for 4-methylumbelliferyl-beta-D-glucopyranoside (at 37 degrees Celsius and pH 6.0) {ECO:0000269 PubMed:17595169}; KM=50 uM for 4-methylumbelliferyl-beta-D-galactopyranoside (at 37 degrees Celsius and pH 5.5) {ECO:0000269 PubMed:11389701}; KM=144.49 uM for 4-methylumbelliferyl-beta-D-galactopyranoside (at 37 degrees Celsius and pH 6.0) {ECO:0000269 PubMed:17595169}; KM=370 uM for 4-nitrophenyl-beta-D-fucopyranoside {ECO:0000269 PubMed:11784319}; KM=570 uM for 4-nitrophenyl-alpha-L-arabinopyranoside {ECO:0000269 PubMed:11784319}; KM=1.76 mM for 4-nitrophenyl-beta-D-glucopyranoside {ECO:0000269 PubMed:11784319}; KM=3.14 mM for 4-nitrophenyl-beta-D-galactopyranoside {ECO:0000269 PubMed:11784319}; KM=1.58 mM for 4-nitrophenyl-beta-D-xylopyranoside {ECO:0000269 PubMed:11784319}; KM=52.6 mM for 4-nitrophenyl-beta-L-arabinopyranoside {ECO:0000269 PubMed:11784319}; KM=35 uM for genistein-7-glucoside {ECO:0000269 PubMed:11784319}; KM=118 uM for daidzein-7-glucoside {ECO:0000269 PubMed:11784319}; KM=31.8 uM for quercetin-4'-glucoside {ECO:0000269 PubMed:11784319}; KM=42.2 uM for quercetin-7-glucoside {ECO:0000269 PubMed:11784319}; KM=21.5 uM for apigenin-7-glucoside {ECO:0000269 PubMed:11784319}; KM=10 uM for luteolin-4'-glucoside {ECO:0000269 PubMed:11784319}; KM=50 uM for luteolin-7-glucoside {ECO:0000269 PubMed:11784319}; KM=432 uM for naringenin-7-glucoside {ECO:0000269 PubMed:11784319}; KM=253 uM for eriodictyol-7-glucoside {ECO:0000269 PubMed:11784319}; Vmax=280 umol/h/mg enzyme toward 4-methylumbelliferyl-beta-D- glucopyranoside {ECO:0000269 PubMed:20728381}; Vmax=10 umol/min/mg enzyme toward 4-nitrophenyl-beta-D- glucopyranoside {ECO:0000269 PubMed:11784319}; Vmax=1.73 umol/min/mg enzyme toward genistein-7-glucoside {ECO:0000269 PubMed:11784319}; Vmax=2.75 umol/min/mg enzyme toward daidzein-7-glucoside {ECO:0000269 PubMed:11784319}; Vmax=1.19 umol/min/mg enzyme toward quercetin-4'-glucoside {ECO:0000269 PubMed:11784319}; Vmax=0.77 umol/min/mg enzyme toward quercetin-7-glucoside {ECO:0000269 PubMed:11784319}; Vmax=1.30 umol/min/mg enzyme toward apigenin-7-glucoside {ECO:0000269 PubMed:11784319}; Vmax=1.30 umol/min/mg enzyme toward luteolin-4'-glucoside {ECO:0000269 PubMed:11784319}; Vmax=2.85 umol/min/mg enzyme toward luteolin-7-glucoside {ECO:0000269 PubMed:11784319}; Vmax=0.93 umol/min/mg enzyme toward naringenin-7-glucoside {ECO:0000269 PubMed:11784319}; Vmax=0.90 umol/min/mg enzyme toward eriodictyol-7-glucoside {ECO:0000269 PubMed:11784319}; Note=kcat is 0.43 min(-1) for the hydrolysis of glucosylceramide (PubMed:17595169). kcat<0.01 min(-1) for the hydrolysis of galactosylceramide (PubMed:17595169). kcat is 7.26 min(-1) for the hydrolysis of C6-NBD-glucosylceramide (PubMed:17595169). kcat is 1.53 min(-1) for the hydrolysis of C6-NBD- galactosylceramide (PubMed:17595169). kcat is 73.75 min(-1) for the hydrolysis of 4-methylumbelliferyl-beta-D-glucopyranoside (PubMed:17595169). kcat is 94.35 min(-1) for the hydrolysis of 4-methylumbelliferyl-beta-D-galactopyranoside (PubMed:17595169). kcat is 10.7 s(-1) for the hydrolysis of 4-nitrophenyl-beta-D- fucopyranoside (PubMed:11784319). kcat is 5.97 s(-1) for the hydrolysis of 4-nitrophenyl-alpha-L-arabinopyranoside (PubMed:11784319). kcat is 12.1 s(-1) for the hydrolysis of 4- nitrophenyl-beta-D-glucopyranoside (PubMed:11784319). kcat is 17.6 s(-1) for the hydrolysis of 4-nitrophenyl-beta-D- galactopyranoside (PubMed:11784319). kcat is 0.75 s(-1) for the hydrolysis of 4-nitrophenyl-beta-D-xylopyranoside (PubMed:11784319). kcat is 0.66 s(-1) for the hydrolysis of 4- nitrophenyl-beta-L-arabinopyranoside (PubMed:11784319). {ECO:0000269 PubMed:11784319, ECO:0000269 PubMed:17595169}; pH dependence: Optimum pH is 6.0-7.0 for the glucosylceramidase activity (PubMed:11784319, PubMed:17595169). Optimum pH is 6.0 for the hydrolysis of 4-methylumbelliferyl-beta-D-glucopyranoside (PubMed:20728381). Activity decreases sharply with increasing acidity and is less than 4% at pH 4 (PubMed:11784319). {ECO:0000269 PubMed:11784319, ECO:0000269 PubMed:17595169, ECO:0000269 PubMed:20728381}; Temperature dependence: Optimum temperature is 50 degrees Celsius (PubMed:11784319). Stable more than 24 hours at 37 degrees Celsius (PubMed:11784319). Loses activity at 58 degrees Celsius (PubMed:11784319). {ECO:0000269 PubMed:11784319};

Enzyme Numbers (IUBMB) for GBA3 Gene

Phenotypes From GWAS Catalog for GBA3 Gene

Gene Ontology (GO) - Molecular Function for GBA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004336 galactosylceramidase activity IDA 17595169
GO:0004348 glucosylceramidase activity TAS --
GO:0004565 beta-galactosidase activity IDA 11389701
GO:0005515 protein binding IPI 26193330
GO:0008422 beta-glucosidase activity IDA 11784319
genes like me logo Genes that share ontologies with GBA3: view
genes like me logo Genes that share phenotypes with GBA3: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for GBA3 Gene

Localization for GBA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GBA3 Gene

Cytoplasm, cytosol.

Gene Ontology (GO) - Cellular Components for GBA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:1902494 catalytic complex IDA 26193330
genes like me logo Genes that share ontologies with GBA3: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for GBA3 Gene

Pathways & Interactions for GBA3 Gene

genes like me logo Genes that share pathways with GBA3: view

Pathways by source for GBA3 Gene

Interacting Proteins for GBA3 Gene

Gene Ontology (GO) - Biological Process for GBA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006680 glucosylceramide catabolic process IMP 17595169
GO:0006683 galactosylceramide catabolic process IDA 17595169
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0016139 glycoside catabolic process IDA 11389701
genes like me logo Genes that share ontologies with GBA3: view

No data available for SIGNOR curated interactions for GBA3 Gene

Drugs & Compounds for GBA3 Gene

(11) Drugs for GBA3 Gene - From: HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
D-glucose Approved, Investigational, Vet_approved Pharma 0
Water Approved Pharma 0
Acarbose Approved, Investigational Pharma Alpha-glucosidase inhibitor, Glucosidase alpha inhibitor (intestinal) 97
Acetone cyanohydrin Experimental Pharma 0
Beta-D-Glucose Experimental Pharma 0

(16) Additional Compounds for GBA3 Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2R)-2-Hydroxy-2-methylbutanenitrile
  • (2R)-2-Hydroxy-2-cyanobutane
  • (2R)-2-Hydroxy-2-methylbutyronitrile
  • (R)-Butan-2-one cyanohydrin
  • 2-Hydroxy-2-methylbutanenitrile
(S)-4-Hydroxymandelonitrile
1,4-beta-D-Glucan
11-hydroxy-7-(4-hydroxy-3,5-dimethoxyphenyl)-3-(4-hydroxyphenyl)-6-{[3,4,5-trihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy}-2λ⁴,8-dioxatricyclo[7.3.1.0⁵,¹³]trideca-1(13),2,4,6,9,11-hexaen-2-ylium
Alpha-D-Glucose
  • alpha-D-GLC
  • alpha-Dextrose
  • a-D-GLC
  • α-D-GLC
  • a-D-Glucose
492-62-6

(5) Tocris Compounds for GBA3 Gene

Compound Action Cas Number
1-Deoxymannojirimycin hydrochloride alpha-Mannosidase I inhibitor 73465-43-7
1-Deoxynojirimycin Glucosidase I and II inhibitor 19130-96-2
Acarbose Glucosidase alpha inhibitor (intestinal) 56180-94-0
Castanospermine Glucosidases alpha and beta inhibitor 79831-76-8
Miglustat hydrochloride alpha-glucosidase I and II inhibitor. Also inhibits ceramide-specific glycosyltransferases 210110-90-0
genes like me logo Genes that share compounds with GBA3: view

Transcripts for GBA3 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GBA3 Gene

No ASD Table

Relevant External Links for GBA3 Gene

GeneLoc Exon Structure for
GBA3
ECgene alternative splicing isoforms for
GBA3

Expression for GBA3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GBA3 Gene

mRNA differential expression in normal tissues according to GTEx for GBA3 Gene

This gene is overexpressed in Liver (x18.6), Kidney - Cortex (x15.4), and Small Intestine - Terminal Ileum (x13.4).

Protein differential expression in normal tissues from HIPED for GBA3 Gene

This gene is overexpressed in Liver (35.0), Gallbladder (17.2), and Fetal gut (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GBA3 Gene



Protein tissue co-expression partners for GBA3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GBA3 Gene:

GBA3

SOURCE GeneReport for Unigene cluster for GBA3 Gene:

Hs.653107

mRNA Expression by UniProt/SwissProt for GBA3 Gene:

Q9H227-GBA3_HUMAN
Tissue specificity: Present in small intestine (at protein level). Expressed in liver, small intestine, colon, spleen and kidney. Down-regulated in renal cell carcinomas and hepatocellular carcinomas.

Evidence on tissue expression from TISSUES for GBA3 Gene

  • Intestine(4.3)
  • Liver(4.3)
  • Kidney(4.1)
genes like me logo Genes that share expression patterns with GBA3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for GBA3 Gene

Orthologs for GBA3 Gene

This gene was present in the common ancestor of animals.

Orthologs for GBA3 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia GBA3 33
  • 83 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GBA3 33
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GBA3 33
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GBA3 33
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GBA3 33
  • 66 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii gba3 33
  • 53 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7376 32
fruit fly
(Drosophila melanogaster)
Insecta CG9701 33
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea klo-1 33
  • 33 (a)
ManyToMany
klo-2 33
  • 32 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 45 (a)
OneToMany
Species where no ortholog for GBA3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for GBA3 Gene

ENSEMBL:
Gene Tree for GBA3 (if available)
TreeFam:
Gene Tree for GBA3 (if available)

Paralogs for GBA3 Gene

Paralogs for GBA3 Gene

(3) SIMAP similar genes for GBA3 Gene using alignment to 2 proteins:

  • GBA3_HUMAN
  • A8K9N1_HUMAN
genes like me logo Genes that share paralogs with GBA3: view

Variants for GBA3 Gene

Sequence variations from dbSNP and Humsavar for GBA3 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs10000431 -- 22,784,411(+) T/C intron_variant
rs1000048890 -- 22,729,596(+) C/T intron_variant
rs1000068155 -- 22,802,848(+) A/C intron_variant
rs1000079017 -- 22,739,911(+) C/T intron_variant
rs1000093634 -- 22,778,684(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GBA3 Gene

Variant ID Type Subtype PubMed ID
esv2664670 CNV deletion 23128226
esv3599912 CNV loss 21293372
nsv1005733 CNV loss 25217958
nsv1139223 CNV deletion 24896259
nsv4272 CNV insertion 18451855
nsv520813 CNV loss 19592680
nsv821634 CNV loss 15273396
nsv829883 CNV loss 17160897
nsv980186 CNV duplication 23825009

Additional Variant Information for GBA3 Gene

Human Gene Mutation Database (HGMD)
GBA3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GBA3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for GBA3 Gene

Disorders for GBA3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GBA3 Gene - From: HGMD and Novoseek

Disorder Aliases PubMed IDs
gaucher disease, type i
  • gd i
- elite association - COSMIC cancer census association via MalaCards
Search GBA3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GBA3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GBA3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GBA3 Gene

Publications for GBA3 Gene

  1. Cloning and characterization of human liver cytosolic beta-glycosidase. (PMID: 11389701) de Graaf M … Haisma HJ (The Biochemical journal 2001) 2 3 4 23 56
  2. Crystal structure of the covalent intermediate of human cytosolic beta-glucosidase. (PMID: 18662675) Noguchi J … Kakuta Y (Biochemical and biophysical research communications 2008) 3 4 23 56
  3. The crystal structure of human cytosolic beta-glucosidase unravels the substrate aglycone specificity of a family 1 glycoside hydrolase. (PMID: 17555766) Tribolo S … Juge N (Journal of molecular biology 2007) 3 4 23 56
  4. Mutations in the gene encoding cytosolic beta-glucosidase in Gaucher disease. (PMID: 15322500) Beutler E … West C (The Journal of laboratory and clinical medicine 2004) 3 4 23 56
  5. Substrate (aglycone) specificity of human cytosolic beta-glucosidase. (PMID: 12667141) Berrin JG … Juge N (The Biochemical journal 2003) 3 4 23 56

Products for GBA3 Gene

Sources for GBA3 Gene