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Aliases for GBA3 Gene

Aliases for GBA3 Gene

  • Glucosidase, Beta, Acid 3 (Gene/Pseudogene) 2 3
  • CBGL1 3 4 6
  • Cytosolic Beta-Glucosidase-Like Protein 1 3 4
  • Glucosidase, Beta, Acid 3 (Cytosolic) 2 3
  • Klotho-Related Protein 2 3
  • EC 3.2.1.21 4 64
  • CBG 3 4
  • Cytosolic Beta-Glucosidase 3
  • GLUC 3
  • KLRP 3

External Ids for GBA3 Gene

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 (Glucosidase, Beta, Acid 3 (Gene/Pseudogene)) is a Protein Coding gene. Diseases associated with GBA3 include gauchers disease. Among its related pathways are Sphingolipid metabolism and Sphingolipid metabolism. GO annotations related to this gene include beta-galactosidase activity and glycosylceramidase activity. An important paralog of this gene is LCT.

UniProtKB/Swiss-Prot for GBA3 Gene

  • 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.

Tocris 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

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GBA3 Gene

Genomics for GBA3 Gene

Genomic Location for GBA3 Gene

Start:
22,692,914 bp from pter
End:
22,819,575 bp from pter
Size:
126,662 bases
Orientation:
Plus strand

Genomic View for GBA3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GBA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GBA3 Gene

Regulatory Elements 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:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for GBA3 Gene

    Alternative splice isoforms for GBA3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GBA3 Gene

Proteomics data for GBA3 Gene at MOPED

Selected DME Specific Peptides for GBA3 Gene

Post-translational modifications for GBA3 Gene

Other Protein References for GBA3 Gene

Domains for GBA3 Gene

UniProtKB/Swiss-Prot:

GBA3_HUMAN
Family:
  • Belongs to the glycosyl hydrolase 1 family. Klotho subfamily.:
    • Q9H227
genes like me logo Genes that share domains with GBA3: view

No data available for Gene Families for GBA3 Gene

Function for GBA3 Gene

Molecular function for GBA3 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=40 uM for 4-methylumbelliferyl-beta-D-glucopyranoside {ECO:0000269 PubMed:11389701, ECO:0000269 PubMed:11784319}; KM=50 uM for 4-methylumbelliferyl-beta-D-galactopyranoside {ECO:0000269 PubMed:11389701, ECO:0000269 PubMed:11784319}; KM=370 uM for 4-nitrophenyl-beta-D-fucopyranoside {ECO:0000269 PubMed:11389701, ECO:0000269 PubMed:11784319}; KM=570 uM for 4-nitrophenyl-alpha-D-arabinopyranoside {ECO:0000269 PubMed:11389701, ECO:0000269 PubMed:11784319}; KM=1.76 mM for 4-nitrophenyl-beta-D-glucopyranoside {ECO:0000269 PubMed:11389701, ECO:0000269 PubMed:11784319}; KM=3.14 mM for 4-nitrophenyl-beta-D-galactopyranoside {ECO:0000269 PubMed:11389701, ECO:0000269 PubMed:11784319}; KM=1.58 mM for 4-nitrophenyl-beta-D-xylopyranoside {ECO:0000269 PubMed:11389701, ECO:0000269 PubMed:11784319}; KM=52.6 mM for 4-nitrophenyl-beta-L-arabinopyranoside {ECO:0000269 PubMed:11389701, ECO:0000269 PubMed:11784319}; KM=35 uM for genistein-7-glucoside {ECO:0000269 PubMed:11389701, ECO:0000269 PubMed:11784319}; KM=118 uM for daidzein-7-glucoside {ECO:0000269 PubMed:11389701, ECO:0000269 PubMed:11784319}; KM=31.8 uM for quercetin-4-glucoside {ECO:0000269 PubMed:11389701, ECO:0000269 PubMed:11784319}; KM=42.2 uM for quercetin-7-glucoside {ECO:0000269 PubMed:11389701, ECO:0000269 PubMed:11784319}; KM=21.5 uM for apigenin-7-glucoside {ECO:0000269 PubMed:11389701, ECO:0000269 PubMed:11784319}; KM=10 uM for luteolin-4-glucoside {ECO:0000269 PubMed:11389701, ECO:0000269 PubMed:11784319}; KM=50 uM for luteolin-7-glucoside {ECO:0000269 PubMed:11389701, ECO:0000269 PubMed:11784319}; KM=432 uM for naringenin-7-glucoside {ECO:0000269 PubMed:11389701, ECO:0000269 PubMed:11784319}; KM=253 uM for eriodictyol-7-glucoside {ECO:0000269 PubMed:11389701, ECO:0000269 PubMed:11784319}; Vmax=10 umol/min/mg enzyme toward 4-nitrophenyl-beta-D- glucopyranoside {ECO:0000269 PubMed:11389701, ECO:0000269 PubMed:11784319}; Vmax=1.73 umol/min/mg enzyme toward genistein-7-glucoside {ECO:0000269 PubMed:11389701, ECO:0000269 PubMed:11784319}; Vmax=2.75 umol/min/mg enzyme toward daidzein-7-glucoside {ECO:0000269 PubMed:11389701, ECO:0000269 PubMed:11784319}; Vmax=1.19 umol/min/mg enzyme toward quercetin-4-glucoside {ECO:0000269 PubMed:11389701, ECO:0000269 PubMed:11784319}; Vmax=0.77 umol/min/mg enzyme toward quercetin-7-glucoside {ECO:0000269 PubMed:11389701, ECO:0000269 PubMed:11784319}; Vmax=1.30 umol/min/mg enzyme toward apigenin-7-glucoside {ECO:0000269 PubMed:11389701, ECO:0000269 PubMed:11784319}; Vmax=1.30 umol/min/mg enzyme toward luteolin-4-glucoside {ECO:0000269 PubMed:11389701, ECO:0000269 PubMed:11784319}; Vmax=2.85 umol/min/mg enzyme toward luteolin-7-glucoside {ECO:0000269 PubMed:11389701, ECO:0000269 PubMed:11784319}; Vmax=0.93 umol/min/mg enzyme toward naringenin-7-glucoside {ECO:0000269 PubMed:11389701, ECO:0000269 PubMed:11784319}; Vmax=0.90 umol/min/mg enzyme toward eriodictyol-7-glucoside {ECO:0000269 PubMed:11389701, ECO:0000269 PubMed:11784319}; 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. {ECO:0000269 PubMed:11389701, ECO:0000269 PubMed:11784319}; Temperature dependence: Optimum temperature is 50 degrees Celsius. Stable more than 24 hours at 37 degrees Celsius. Loses activity at 58 degrees Celsius. {ECO:0000269 PubMed:11389701, ECO:0000269 PubMed:11784319};
UniProtKB/Swiss-Prot CatalyticActivity: Hydrolysis of terminal, non-reducing beta-D-glucosyl residues with release of beta-D-glucose
UniProtKB/Swiss-Prot EnzymeRegulation: Inhibited by 2,4-dinitrophenyl-2-fluoro-2-deoxy-beta-D-glucopyranoside and sodium taurocholate.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for GBA3 Gene

Gene Ontology (GO) - Molecular Function for GBA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds --
GO:0004565 beta-galactosidase activity IDA 11389701
GO:0008422 beta-glucosidase activity IDA 17595169
GO:0017042 glycosylceramidase activity IDA 17595169
genes like me logo Genes that share ontologies with GBA3: view

Phenotypes for GBA3 Gene

GenomeRNAi human phenotypes for GBA3:
genes like me logo Genes that share phenotypes with GBA3: view

No data available for Animal Models , miRNA , Transcription Factor Targeting 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 --
genes like me logo Genes that share ontologies with GBA3: view

Pathways for GBA3 Gene

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

Interacting Proteins for GBA3 Gene

Selected Interacting proteins: Q9H227-GBA3_HUMAN for GBA3 Gene via I2D

Symbol External ID(s) Details
FGFR3

Gene Ontology (GO) - Biological Process for GBA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006665 sphingolipid metabolic process TAS --
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0016139 glycoside catabolic process IDA 11389701
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with GBA3: view

Compounds for GBA3 Gene

(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]
Kifunensine Inhibitor of class I alpha-mannosidases [109944-15-2]
Miglitol alpha-glucosidase inhibitor [72432-03-2]
OGT 2115 Antiangiogenic. Heparanase inhibitor [853929-59-6]

(7) HMDB Compounds for GBA3 Gene

Compound Synonyms Cas Number PubMed IDs
1,4-beta-D-Glucan
Not Available
Alpha-D-Glucose
  • Hexopyranose
492-62-6
Beta-D-Glucose
  • b-D-Glucopyranose
492-61-5
Cellobiose
  • 4-(b-D-Glucosido)-D-glucose
528-50-7
D-Glucose
  • (+)-Glucose
50-99-7

(2) Novoseek inferred chemical compound relationships for GBA3 Gene

Compound -log(P) Hits PubMed IDs
phlorizin 67.4 1
galactose 35.2 1
genes like me logo Genes that share compounds with GBA3: view

Transcripts for GBA3 Gene

Unigene Clusters for GBA3 Gene

Glucosidase, beta, acid 3 (cytosolic):
Representative Sequences:

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 for GBA3 Gene

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

This gene is overexpressed in Liver (18.6), Kidney - Cortex (15.4), and Small Intestine - Terminal Ileum (13.4).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for GBA3 Gene

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.
genes like me logo Genes that share expressions with GBA3: view

Orthologs for GBA3 Gene

This gene was present in the common ancestor of animals.

Orthologs for GBA3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GBA3 37
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GBA3 37
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GBA3 37
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GBA3 37
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GBA3 37
  • 66 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7376 36
zebrafish
(Danio rerio)
Actinopterygii gba3 37
  • 53 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9701 37
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea klo-1 37
  • 33 (a)
ManyToMany
klo-2 37
  • 32 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 45 (a)
OneToMany
Species with no ortholog for GBA3:
  • 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

Selected SIMAP similar genes for GBA3 Gene using alignment to 2 proteins:

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 Sequence Context AA Info Type MAF
rs11550 -- 22,727,406(-) AGAAC(C/T)GAAGA intron-variant
rs118834 -- 22,809,770(+) GTTCT(C/T)ACAGA intron-variant
rs168579 -- 22,791,288(-) GAGGC(A/G)TAGAG intron-variant
rs173362 -- 22,792,759(-) AGAAC(C/T)TAGTC intron-variant
rs181558 -- 22,815,619(-) gagtt(C/T)gggac intron-variant

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

Variant ID Type Subtype PubMed ID
nsv821634 CNV Loss 15273396
nsv829883 CNV Loss 17160897
esv2664670 CNV Deletion 23128226
nsv4272 CNV Insertion 18451855
nsv520813 CNV Loss 19592680

Relevant External Links for GBA3 Gene

HapMap Linkage Disequilibrium report
GBA3
Human Gene Mutation Database (HGMD)
GBA3

Disorders for GBA3 Gene

(1) MalaCards Diseases for GBA3 Gene

Search for GBA3 Gene in MalaCards »

(3) Novoseek inferred disease relationships for GBA3 Gene

Disease -log(P) Hits PubMed IDs
gaucher disease 57.6 1
ischemia 5.76 2
tumors 0 1

Relevant External Links for GBA3

Genetic Association Database (GAD)
GBA3
Human Genome Epidemiology (HuGE) Navigator
GBA3
genes like me logo Genes that share disorders with GBA3: view

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

Publications for GBA3 Gene

  1. Cloning and characterization of human liver cytosolic beta- glycosidase. (PMID: 11389701) de Graaf M. … Haisma H.J. (Biochem. J. 2001) 2 3 4 23
  2. Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides. (PMID: 11784319) Berrin J.-G. … Juge N. (Eur. J. Biochem. 2002) 3 4 23
  3. Deglycosylation by small intestinal epithelial cell beta-glucosidases is a critical step in the absorption and metabolism of dietary flavonoid glycosides in humans. (PMID: 12594539) Nemeth K. … Kroon P.A. (Eur. J. Nutr. 2003) 3 4 23
  4. Substrate (aglycone) specificity of human cytosolic beta- glucosidase. (PMID: 12667141) Berrin J.-G. … Juge N. (Biochem. J. 2003) 3 4 23
  5. Crystal structure of the covalent intermediate of human cytosolic beta-glucosidase. (PMID: 18662675) Noguchi J. … Kakuta Y. (Biochem. Biophys. Res. Commun. 2008) 3 4 23

Products for GBA3 Gene

Sources for GBA3 Gene

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