Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



GBA3 Gene

protein-coding   GIFtS: 56
GCID: GC04P022694

Glucosidase, Beta, Acid 3 (Gene/Pseudogene)

(Previous names: glucosidase, beta, acid 3 (cytosolic))
  See GBA3-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Glucosidase, Beta, Acid 3 (Gene/Pseudogene)1     EC 3.2.1.213 8
CBGL12 3 5     GLUC2
Glucosidase, Beta, Acid 3 (Cytosolic)1 2     KLRP2
Klotho-Related Protein1 2     Cytosolic Beta-Glucosidase2
Cytosolic Beta-Glucosidase-Like Protein 12 3     Glucosidase, Beta, Acid 32
CBG2 3     

External Ids:    HGNC: 190691   Entrez Gene: 577332   Ensembl: ENSG000002499487   OMIM: 6066195   UniProtKB: Q9H2273   

Export aliases for GBA3 gene to outside databases

Previous GC identifers: GC04P022777 GC04P022382 GC04P022445 GC04P022370 GC04P022303 GC04P022039


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

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 (glucosidase, beta, acid 3 (gene/pseudogene)) is a protein-coding gene. Diseases associated with GBA3 include gaucher's disease. GO annotations related to this gene include glycosylceramidase activity and beta-galactosidase activity. An important paralog of this gene is KL.

UniProtKB/Swiss-Prot: GBA3_HUMAN, Q9H227
Function: Glycosidase probably involved in the intestinal absorption and metabolism of dietary flavonoid
glycosides. Able to hydrolyze a broad variety of glycosides including phytoestrogens, flavonols, flavones,
flavanones and cyanogens. Possesses beta-glycosylceramidase activity and may be involved in a nonlysosomal
catabolic pathway of glycosylceramide

summary for GBA3 Gene:
Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two
glucosidase subtypes, alpha- and beta-glucosidase (EC numbers 3.2.1.20 and 3.2.1.21 respectively), which are
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 respectively.

Gene Wiki entry for GBA3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_018915.2  NC_000004.11  NT_006316.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the GBA3 gene promoter:
         AML1a   Sox9   E4BP4   FOXL1   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGBA3 promoter sequence
   Search Chromatin IP Primers for GBA3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GBA3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p15.2   Ensembl cytogenetic band:  4p15.2   HGNC cytogenetic band: 4p15.2

GBA3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GBA3 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P022694:  view genomic region     (about GC identifiers)

Start:
22,694,537 bp from pter      End:
22,821,198 bp from pter
Size:
126,662 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: GBA3_HUMAN, Q9H227 (See protein sequence)
Recommended Name: Cytosolic beta-glucosidase  
Size: 469 amino acids; 53696 Da
5 PDB 3D structures from and Proteopedia for GBA3:
2E9L (3D)        2E9M (3D)        2JFE (3D)        2ZOX (3D)        3VKK (3D)    
Secondary accessions: Q32LY7 Q3MIH4 Q53GG8 Q6NSF4 Q8NHT8 Q9H3T4 Q9H4C6
Alternative splicing: 2 isoforms:  Q9H227-1   Q9H227-2   

Explore the universe of human proteins at neXtProt for GBA3: NX_Q9H227

Post-translational modifications: 

  • The N-terminus is blocked1
  • Modification sites at neXtProt
  • 2 DME Specific Peptides for GBA3 (Q9H227)
     WSLLDNFEW  YNNPVIYITENG 

    REFSEQ proteins (3 alternative transcripts): 
    NP_001121904.1  NP_001264154.1  NP_066024.1  

    ENSEMBL proteins: 
     ENSP00000427458   ENSP00000422220   ENSP00000423754  
    Reactome Protein details: Q9H227

    GBA3 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for GBA3 (Cytosolic beta-Glucosidase/GBA3)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for GBA3
    OriGene Protein Over-expression Lysate for GBA3
    OriGene MassSpec for GBA3
    OriGene Custom Protein Services for GBA3
    GenScript Custom Purified and Recombinant Proteins Services for GBA3
    Novus Biologicals GBA3 Protein
    Novus Biologicals GBA3 Lysates
    Sino Biological Recombinant Protein for GBA3
    Sino Biological Cell Lysate for GBA3
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for GBA3 

     
    antibodies-online proteins for GBA3 (4 products) 

     
    antibodies-online peptides for GBA3

    GBA3 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for GBA3 (Cytosolic beta-Glucosidase/GBA3)
    OriGene Antibodies for GBA3
    OriGene Custom Antibody Services for GBA3
    Novus Biologicals GBA3 Antibodies
    Abcam antibodies for GBA3
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for GBA3
    antibodies-online antibodies for GBA3 (61 products) 

    GBA3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for GBA3
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for GBA3
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for GBA3 
    antibodies-online kits for GBA3 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    4 InterPro protein domains:
     IPR017853 Glycoside_hydrolase_SF
     IPR001360 Glyco_hydro_1
     IPR018120 Glyco_hydro_1_AS
     IPR013781 Glyco_hydro_catalytic_dom

    Graphical View of Domain Structure for InterPro Entry Q9H227

    ProtoNet protein and cluster: Q9H227

    1 Blocks protein domain: IPB001360 Glycoside hydrolase

    UniProtKB/Swiss-Prot: GBA3_HUMAN, Q9H227
    Similarity: Belongs to the glycosyl hydrolase 1 family. Klotho subfamily


    Find genes that share domains with GBA3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GBA3_HUMAN, Q9H227
    Function: Glycosidase probably involved in the intestinal absorption and metabolism of dietary flavonoid
    glycosides. Able to hydrolyze a broad variety of glycosides including phytoestrogens, flavonols, flavones,
    flavanones and cyanogens. Possesses beta-glycosylceramidase activity and may be involved in a nonlysosomal
    catabolic pathway of glycosylceramide
    Catalytic activity: Hydrolysis of terminal, non-reducing beta-D-glucosyl residues with release of beta-D-glucose
    Enzyme regulation: Inhibited by 2,4-dinitrophenyl-2-fluoro-2-deoxy-beta-D-glucopyranoside and sodium taurocholate
    Biophysicochemical properties: Kinetic parameters: KM=40 uM for 4-methylumbelliferyl-beta-D-glucopyranoside; KM=50
    uM for 4-methylumbelliferyl-beta-D-galactopyranoside; KM=370 uM for 4-nitrophenyl-beta-D-fucopyranoside; KM=570
    uM for 4-nitrophenyl-alpha-D-arabinopyranoside; KM=1.76 mM for 4-nitrophenyl-beta-D-glucopyranoside; KM=3.14 mM
    for 4-nitrophenyl-beta-D-galactopyranoside; KM=1.58 mM for 4-nitrophenyl-beta-D-xylopyranoside; KM=52.6 mM for
    4-nitrophenyl-beta-L-arabinopyranoside; KM=35 uM for genistein-7-glucoside; KM=118 uM for daidzein-7-glucoside;
    KM=31.8 uM for quercetin-4'-glucoside; KM=42.2 uM for quercetin-7-glucoside; KM=21.5 uM for apigenin-7-glucoside;
    KM=10 uM for luteolin-4'-glucoside; KM=50 uM for luteolin-7-glucoside; KM=432 uM for naringenin-7-glucoside;
    KM=253 uM for eriodictyol-7-glucoside; Vmax=10 umol/min/mg enzyme toward 4-nitrophenyl-beta-D- glucopyranoside;
    Vmax=1.73 umol/min/mg enzyme toward genistein-7-glucoside; Vmax=2.75 umol/min/mg enzyme toward
    daidzein-7-glucoside; Vmax=1.19 umol/min/mg enzyme toward quercetin-4'-glucoside; Vmax=0.77 umol/min/mg enzyme
    toward quercetin-7-glucoside; Vmax=1.30 umol/min/mg enzyme toward apigenin-7-glucoside; Vmax=1.30 umol/min/mg
    enzyme toward luteolin-4'-glucoside; Vmax=2.85 umol/min/mg enzyme toward luteolin-7-glucoside; Vmax=0.93
    umol/min/mg enzyme toward naringenin-7-glucoside; Vmax=0.90 umol/min/mg enzyme toward eriodictyol-7-glucoside; pH
    dependence: Optimum pH is 6.5. Active from pH 5 to 7.5. Activity decreases sharply with increasing acidity and is
    less than 4% at pH 4; Temperature dependence: Optimum temperature is 50 degrees Celsius. Stable more than 24
    hours at 37 degrees Celsius. Loses activity at 58 degrees Celsius;

         Enzyme Number (IUBMB): EC 3.2.1.211 2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004565beta-galactosidase activity IDA11389701
    GO:0008422beta-glucosidase activity IDA17595169
    GO:0017042glycosylceramidase activity IDA17595169
         
    Find genes that share ontologies with GBA3           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for GBA3:
     Increased G1 DNA content 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for GBA3

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat GBA3 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate GBA3:
    hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmidGBA3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GBA3
    Predesigned siRNA for gene silencing in human, mouse, rat GBA3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for GBA3

    Clone
    Products:
         
    OriGene clones in human, mouse for GBA3 (see all 9)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): GBA3 (NM_001128432)
    Sino Biological Human cDNA Clone for GBA3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GBA3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GBA3

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for GBA3
    Browse ESI BIO Cell Lines and PureStem Progenitors for GBA3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GBA3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    GBA3_HUMAN, Q9H227: Cytoplasm, cytosol

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    Find genes that share ontologies with GBA3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for GBA3 About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    2Sphingolipid metabolism
    Sphingolipid metabolism0.61
    Glycosphingolipid metabolism0.56
    3Glucuronidation
    Starch and sucrose metabolism0.41
    4Taurine and hypotaurine metabolism
    Cyanoamino acid metabolism0.31


    Find genes that share SuperPaths with GBA3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for GBA3
        Glycosphingolipid metabolism


    3 Kegg Pathways  (Kegg details for GBA3):
        Cyanoamino acid metabolism
    Starch and sucrose metabolism
    Metabolic pathways

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GBA3
    Interactions:

        Search GeneGlobe Interaction Network for GBA3

    1 Interacting protein for GBA3 (Q9H2273) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FGFR3P226073I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process IEA--
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0016139glycoside catabolic process IDA11389701
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with GBA3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for GBA3 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    KifunensineInhibitor of class I alpha-mannosidases[109944-15-2]
    1-DeoxynojirimycinGlucosidase I and II inhibitor[19130-96-2]
    1-Deoxymannojirimycin hydrochloridealpha-Mannosidase I inhibitor[73465-43-7]
    Miglitolalpha-glucosidase inhibitor[72432-03-2]
    OGT 2115Antiangiogenic. Heparanase inhibitor[853929-59-6]

    7 HMDB Compounds for GBA3    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cellobiose4-(b-D-Glucosido)-D-glucose (see all 20)528-50-718752931
    1,4-beta-D-Glucan ----
    Alpha-D-GlucoseHexopyranose (see all 11)492-62-6--
    Beta-D-Glucoseb-D-Glucopyranose (see all 8)492-61-5--
    D-Glucose(+)-Glucose (see all 23)50-99-7--
    SodiumSodium (see all 2)7440-23-5--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    2 Novoseek inferred chemical compound relationships for GBA3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phlorizin 67.4 1 17009167 (1)
    galactose 35.2 1 11389701 (1)



    Find genes that share compounds with GBA3           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for GBA3 gene (3 alternative transcripts): 
    NM_001128432.2  NM_001277225.1  NM_020973.4  

    Unigene Cluster for GBA3:

    Glucosidase, beta, acid 3 (cytosolic)
    Hs.653107  [show with all ESTs]
    Unigene Representative Sequence: NM_020973
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000508166(uc003gqp.4) ENST00000503442(uc010iep.3) ENST00000511446(uc011bxo.2)
    ENST00000504802 ENST00000508264
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat GBA3 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate GBA3:
    hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmidGBA3 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for GBA3
    Predesigned siRNA for gene silencing in human, mouse, rat GBA3
    Clone
    Products:
         
    OriGene clones in human, mouse for GBA3 (see all 9)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): GBA3 (NM_001128432)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GBA3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GBA3
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for GBA3
    OriGene qSTAR qPCR primer pairs in human, mouse for GBA3
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat GBA3
      QuantiTect SYBR Green Assays in human, mouse, rat GBA3
      QuantiFast Probe-based Assays in human, mouse, rat GBA3

    Additional mRNA sequence: 

    AB017913.1 AF317840.1 AF323990.1 AJ278964.1 AK222963.1 AK292746.1 AK298377.1 AK313189.1 
    BC029362.1 BC070188.1 BC101829.1 BC109377.1 BC136264.1 

    3 DOTS entries:

    DT.40301744  DT.92437539  DT.92437542 

    Selected AceView cDNA sequences (see all 97):

    AU076905 AW028505 CB154354 BG569558 AI261896 BG563661 AI473197 AI431929 
    AA923053 BF195862 BG432627 AI492397 AB017913 AI700801 AI928348 AW242457 
    BG219357 AW235567 AW235515 BG185016 BE897364 AW237677 T90211 BX112893 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    GBA3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGATCCATAA
    GBA3 Expression
    About this image

    GBA3 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

    SOURCE GeneReport for Unigene cluster: Hs.653107

    UniProtKB/Swiss-Prot: GBA3_HUMAN, Q9H227
    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

        Custom PCR Arrays for GBA3
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for GBA3
    OriGene qSTAR qPCR primer pairs in human, mouse for GBA3
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat GBA3
    QuantiTect SYBR Green Assays in human, mouse, rat GBA3
    QuantiFast Probe-based Assays in human, mouse, rat GBA3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GBA3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for GBA3 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia GBA36
    glucosidase, beta, acid 3 (gene/pseudogene)
    83(a)
    1 ↔ 1
    3(87080343-87190985)
    lizard
    (Anolis carolinensis)
    Reptilia GBA36
    glucosidase, beta, acid 3 (gene/pseudogene)
    66(a)
    1 ↔ 1
    5(74802518-74880292)
    zebrafish
    (Danio rerio)
    Actinopterygii gba36
    glucosidase, beta, acid 3 (gene/pseudogene)
    53(a)
    1 ↔ 1
    7(72890148-72896535) ENSDARG00000031150
    fruit fly
    (Drosophila melanogaster)
    Insecta CG97016
    --
    34(a)
    1 → many
    3L(16726646-16732464)
    worm
    (Caenorhabditis elegans)
    Secernentea klo-16
    klo-26
    Protein KLO-2 (klo-2) mRNA, complete cds
    33(a)
    32(a)
    many ↔ many
    many ↔ many
    IV(7745989-7748225) WBGene00016848
    III(2446223-2448643) WBGene00017103


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for GBA3 gene
    KL2  KLB2  LCTL2  LCT2  
    3 SIMAP similar genes for GBA3 using alignment to 2 protein entries:     GBA3_HUMAN (see all proteins):
    LCT    LCTL    KLB

    Find genes that share paralogs with GBA3           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for GBA3 (see all 2884)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2074644011,2
    Cuntested122719132(+) TCCAAA/C/TTGGGA 6 -- int10--------
    rs1122167281,2
    C,Funtested122730658(+) GAGGGA/G/TAGGGA 6 -- int11CSA 2
    rs1483532971,2
    --22652580(+) CGTGCC/TTAGTT 2 -- us2k10--------
    rs3834461,2
    H--22692714(-) ATTATA/TTACAG 4 -- us2k14Minor allele frequency- T:0.00NS EA 410
    rs775454411,2
    F--22692718(+) ATATAA/GTCTCT 4 -- us2k11Minor allele frequency- G:0.05WA 118
    rs3797791,2
    H--22692804(-) CATTGT/GGTAAT 4 -- us2k14Minor allele frequency- G:0.00NS EA 412
    rs168729631,2
    C,F,H--22692864(+) ACTTCG/AGTTAT 4 -- us2k120Minor allele frequency- A:0.04NA NS EA WA 2030
    rs3717541,2
    H--22692890(-) aGACTA/TTGGAA 4 -- us2k15Minor allele frequency- T:0.00NS EA NA 420
    rs1999645641,2
    C--22692894(+) ATAGTC/TTTTTT 4 -- us2k10--------
    rs1122254921,2
    C,F--22693122(+) GTCTCG/AAACGC 4 -- us2k11Minor allele frequency- A:0.50WA 2

    HapMap Linkage Disequilibrium report for GBA3 (22694537 - 22821198 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for GBA3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2664670CNV Deletion23128226
    nsv4272CNV Insertion18451855
    nsv520813CNV Loss19592680
    nsv829883CNV Loss17160897
    nsv821634CNV Loss15273396

    Human Gene Mutation Database (HGMD): GBA3
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing GBA3
    DNA2.0 Custom Variant and Variant Library Synthesis for GBA3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 606619    OMIM disorders: --

    1 disease for GBA3:    
    About MalaCards
    gaucher's disease


    Find genes that share disorders with GBA3           About GenesLikeMe

    3 Novoseek inferred disease relationships for GBA3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gaucher disease 57.6 1 15322500 (1)
    ischemia 5.76 3 12867598 (2)
    tumors 0 3 11043382 (1)

    Genetic Association Database (GAD): GBA3
    Human Genome Epidemiology (HuGE) Navigator: GBA3 (1 document)

    Export disorders for GBA3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for GBA3 gene, integrated from 10 sources (see all 54):
    (articles sorted by number of sources associating them with GBA3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of human liver cytosolic beta- glycosidase. (PubMed id 11389701)1, 2, 3, 9 de Graaf M.... Haisma H.J. (Biochem. J. 2001)
    2. Molecular cloning and expression of a novel klotho-related protein. (PubMed id 11043382)1, 2, 9 Yahata K.... Nakao K. (J. Mol. Med. 2000)
    3. Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides. (PubMed id 11784319)1, 2, 9 Berrin J.-G.... Juge N. (Eur. J. Biochem. 2002)
    4. Crystal structure of the covalent intermediate of human cytosolic beta-glucosidase. (PubMed id 18662675)1, 2, 9 Noguchi J....Kakuta Y. (Biochem. Biophys. Res. Commun. 2008)
    5. Mutations in the gene encoding cytosolic beta-glucosidase in Gaucher disease. (PubMed id 15322500)1, 2, 9 Beutler E.... West C. (J. Lab. Clin. Med. 2004)
    6. Deglycosylation by small intestinal epithelial cell beta-glucosidases is a critical step in the absorption and metabolism of dietary flavonoid glycosides in humans. (PubMed id 12594539)1, 2, 9 Nemeth K.... Kroon P.A. (Eur. J. Nutr. 2003)
    7. The crystal structure of human cytosolic beta-glucosidase unravels the substrate aglycone specificity of a family 1 glycoside hydrolase. (PubMed id 17555766)1, 2, 9 Tribolo S.... Juge N. (J. Mol. Biol. 2007)
    8. Substrate (aglycone) specificity of human cytosolic beta- glucosidase. (PubMed id 12667141)1, 2, 9 Berrin J.-G.... Juge N. (Biochem. J. 2003)
    9. Klotho-related protein is a novel cytosolic neutral beta- glycosylceramidase. (PubMed id 17595169)1, 2 Hayashi Y....Ito M. (J. Biol. Chem. 2007)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 57733 HGNC: 19069 AceView: GBA3 Ensembl:ENSG00000249948 euGenes: HUgn57733
    ECgene: GBA3 Kegg: 57733 H-InvDB: GBA3

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for GBA3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for GBA3 gene:
    Search GeneIP for patents involving GBA3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Antibodies for GBA3 (Cytosolic beta-Glucosidase/GBA3)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Recombinant/Natural Proteins for GBA3 (Cytosolic beta-Glucosidase/GBA3)   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for GBA3   OriGene RNAi products in human, mouse, rat for GBA3  
     OriGene qPCR primer pairs and template standards for GBA3   OriGene Protein Over-expression Lysate for GBA3  
     OriGene MassSpec for GBA3   OriGene clones in human, mouse for GBA3  
     OriGene qSTAR qPCR primer pairs in human, mouse for GBA3   OriGene Purified Protein for GBA3  
     Browse OriGene ORF clones   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for GBA3   OriGene Custom Protein Services for GBA3  

     
     
     Block miRNA regulation of human, mouse, rat GBA3 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing GBA3
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GBA3 Predesigned siRNA for gene silencing in human, mouse, rat GBA3
     QuantiFast Probe-based Assays in human, mouse, rat GBA3 QuantiTect SYBR Green Assays in human, mouse, rat GBA3
     Custom PCR Arrays for GBA3 Search Chromatin IP Primers for GBA3
     Pre-validated RT2 qPCR Primer Assay in human, mouse / rat GBA3  Search GeneGlobe Interaction Network for GBA3
     Regulatory tfbs in GBA3 promoter
     GenScript Custom Purified and Recombinant Proteins Services for GBA3 GenScript cDNA clones with any tag delivered in your preferred vector for GBA3
     GenScript Custom Assay Services for GBA3 GenScript Custom overexpressing Cell Line Services for GBA3
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Tocris compounds for GBA3
     Proteins for GBA3
     Cell Lysates for GBA3
     cDNA Clones for GBA3
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     GBA3 antibodies
     GBA3 proteins
     GBA3 lysates
     Antibodies for GBA3
     See all of Abcam's Antibodies, Kits and Proteins for GBA3
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.



     Browse ESI BIO Cell Lines and PureStem Progenitors for GBA3
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GBA3
     SwitchGear 3'UTR luciferase reporter plasmids for GBA3
     SwitchGear Promoter luciferase reporter plasmids for GBA3
     ThermoFisher Antibodies for GBA3
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GBA3
     Browse compounds at ApexBio
     Search Addgene for plasmids for GBA3
      Search eBioscience for proteins for GBA3
      Search eBioscience for elisas for GBA3
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for GBA3
     antibodies-online antibodies for GBA3 (61 products)
     antibodies-online kits for GBA3
     antibodies-online peptides for GBA3
     antibodies-online proteins for GBA3 (4 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      GBA3 gene at Home site.
    Version: 3.12.258 10 Dec 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4