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Entry version 159 (12 Aug 2020)
Sequence version 2 (11 Oct 2005)
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Protein

Cytosolic beta-glucosidase

Gene

GBA3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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).6 Publications

Caution

GBA3 could be both a gene and a pseudogene in the human population, its representation in the current reference genome assembly corresponding to a non-functional allele with a stop codon at position 456. The sequence shown here with a Tyr at position 456 corresponds to the most frequent allele in the human population and encodes an active beta-glucosidase while the truncated protein is inactive in vitro.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

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).4 Publications

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

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).2 Publications
  1. KM=13.67 µM for glucosylceramide (at 37 degrees Celsius and pH 6.0)1 Publication
  2. KM=9.24 µM for galactosylceramide (at 37 degrees Celsius and pH 6.0)1 Publication
  3. KM=4.64 µM for C6-NBD-glucosylceramide (at 37 degrees Celsius and pH 6.0)1 Publication
  4. KM=2.04 µM for C6-NBD-galactosylceramide (at 37 degrees Celsius and pH 6.0)1 Publication
  5. KM=40 µM for 4-methylumbelliferyl-beta-D-glucopyranoside (at 37 degrees Celsius and pH 5.5)1 Publication
  6. KM=49.28 µM for 4-methylumbelliferyl-beta-D-glucopyranoside (at 37 degrees Celsius and pH 6.0)1 Publication
  7. KM=50 µM for 4-methylumbelliferyl-beta-D-galactopyranoside (at 37 degrees Celsius and pH 5.5)1 Publication
  8. KM=144.49 µM for 4-methylumbelliferyl-beta-D-galactopyranoside (at 37 degrees Celsius and pH 6.0)1 Publication
  9. KM=370 µM for 4-nitrophenyl-beta-D-fucopyranoside1 Publication
  10. KM=570 µM for 4-nitrophenyl-alpha-L-arabinopyranoside1 Publication
  11. KM=1.76 mM for 4-nitrophenyl-beta-D-glucopyranoside1 Publication
  12. KM=3.14 mM for 4-nitrophenyl-beta-D-galactopyranoside1 Publication
  13. KM=1.58 mM for 4-nitrophenyl-beta-D-xylopyranoside1 Publication
  14. KM=52.6 mM for 4-nitrophenyl-beta-L-arabinopyranoside1 Publication
  15. KM=35 µM for genistein-7-glucoside1 Publication
  16. KM=118 µM for daidzein-7-glucoside1 Publication
  17. KM=31.8 µM for quercetin-4'-glucoside1 Publication
  18. KM=42.2 µM for quercetin-7-glucoside1 Publication
  19. KM=21.5 µM for apigenin-7-glucoside1 Publication
  20. KM=10 µM for luteolin-4'-glucoside1 Publication
  21. KM=50 µM for luteolin-7-glucoside1 Publication
  22. KM=432 µM for naringenin-7-glucoside1 Publication
  23. KM=253 µM for eriodictyol-7-glucoside1 Publication
  1. Vmax=280 µmol/h/mg enzyme toward 4-methylumbelliferyl-beta-D-glucopyranoside1 Publication
  2. Vmax=10 µmol/min/mg enzyme toward 4-nitrophenyl-beta-D-glucopyranoside1 Publication
  3. Vmax=1.73 µmol/min/mg enzyme toward genistein-7-glucoside1 Publication
  4. Vmax=2.75 µmol/min/mg enzyme toward daidzein-7-glucoside1 Publication
  5. Vmax=1.19 µmol/min/mg enzyme toward quercetin-4'-glucoside1 Publication
  6. Vmax=0.77 µmol/min/mg enzyme toward quercetin-7-glucoside1 Publication
  7. Vmax=1.30 µmol/min/mg enzyme toward apigenin-7-glucoside1 Publication
  8. Vmax=1.30 µmol/min/mg enzyme toward luteolin-4'-glucoside1 Publication
  9. Vmax=2.85 µmol/min/mg enzyme toward luteolin-7-glucoside1 Publication
  10. Vmax=0.93 µmol/min/mg enzyme toward naringenin-7-glucoside1 Publication
  11. Vmax=0.90 µmol/min/mg enzyme toward eriodictyol-7-glucoside1 Publication

pH dependencei

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).3 Publications

Temperature dependencei

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).1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei17Substrate1
Binding sitei120Substrate1
Binding sitei164Substrate1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei165Proton donorSequence analysis1
Binding sitei309Substrate1
Active sitei373NucleophileSequence analysis1
Binding sitei417Substrate1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGlycosidase, Hydrolase

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS11014-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
3.2.1.21, 2681

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
Q9H227

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-1660662, Glycosphingolipid metabolism

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
Q9H227

Protein family/group databases

Carbohydrate-Active enZymes

More...
CAZyi
GH1, Glycoside Hydrolase Family 1

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000001931

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Cytosolic beta-glucosidase1 Publication (EC:3.2.1.213 Publications)
Alternative name(s):
Cytosolic beta-glucosidase-like protein 1
Cytosolic glycosylceramidase1 Publication
Short name:
Cytosolic GCase1 Publication
Glucosidase beta acid 3Imported
Glucosylceramidase beta 3Imported
Klotho-related protein1 Publication
Short name:
KLrP1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GBA3Imported
Synonyms:CBG, CBGL1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Unplaced

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:19069, GBA3

Online Mendelian Inheritance in Man (OMIM)

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MIMi
606619, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9H227

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi165E → D: 2-fold decreased glucosylceramidase activity. 2 Publications1
Mutagenesisi165E → Q: Loss of glucosylceramidase activity. 2 Publications1
Mutagenesisi168V → Y: No change in temperature or pH dependence. Decreased glucosidase activity. 1 Publication1
Mutagenesisi225F → S: Decreased glucosidase activity. 1 Publication1
Mutagenesisi308Y → F or A: Decreased glucosidase activity. 1 Publication1
Mutagenesisi373E → D: 2-fold decreased glucosylceramidase activity. 1 Publication1
Mutagenesisi373E → Q: Loss of glucosylceramidase activity. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
57733

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134861643

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q9H227, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL3865

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
GBA3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
77416427

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000639081 – 469Cytosolic beta-glucosidaseAdd BLAST469

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

The N-terminus is blocked.1 Publication

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9H227

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9H227

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9H227

PeptideAtlas

More...
PeptideAtlasi
Q9H227

PRoteomics IDEntifications database

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PRIDEi
Q9H227

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
80477 [Q9H227-1]
80478 [Q9H227-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q9H227, 2 sites

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9H227

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9H227

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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.2 Publications

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

May interact with NEU2.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
121753, 8 interactors

Protein interaction database and analysis system

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IntActi
Q9H227, 2 interactors

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
Q9H227

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q9H227, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1469
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9H227

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9H227

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni424 – 425Substrate bindingBy similarity2

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9H227

KEGG Orthology (KO)

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KOi
K05350

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9H227

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001360, Glyco_hydro_1
IPR033132, Glyco_hydro_1_N_CS
IPR017853, Glycoside_hydrolase_SF

The PANTHER Classification System

More...
PANTHERi
PTHR10353, PTHR10353, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00232, Glyco_hydro_1, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00131, GLHYDRLASE1

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF51445, SSF51445, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00653, GLYCOSYL_HYDROL_F1_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H227-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAFPAGFGWA AATAAYQVEG GWDADGKGPC VWDTFTHQGG ERVFKNQTGD
60 70 80 90 100
VACGSYTLWE EDLKCIKQLG LTHYRFSLSW SRLLPDGTTG FINQKGIDYY
110 120 130 140 150
NKIIDDLLKN GVTPIVTLYH FDLPQTLEDQ GGWLSEAIIE SFDKYAQFCF
160 170 180 190 200
STFGDRVKQW ITINEANVLS VMSYDLGMFP PGIPHFGTGG YQAAHNLIKA
210 220 230 240 250
HARSWHSYDS LFRKKQKGMV SLSLFAVWLE PADPNSVSDQ EAAKRAITFH
260 270 280 290 300
LDLFAKPIFI DGDYPEVVKS QIASMSQKQG YPSSRLPEFT EEEKKMIKGT
310 320 330 340 350
ADFFAVQYYT TRLIKYQENK KGELGILQDA EIEFFPDPSW KNVDWIYVVP
360 370 380 390 400
WGVCKLLKYI KDTYNNPVIY ITENGFPQSD PAPLDDTQRW EYFRQTFQEL
410 420 430 440 450
FKAIQLDKVN LQVYCAWSLL DNFEWNQGYS SRFGLFHVDF EDPARPRVPY
460
TSAKEYAKII RNNGLEAHL
Length:469
Mass (Da):53,696
Last modified:October 11, 2005 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i9036455485CE2E2F
GO
Isoform 2 (identifier: Q9H227-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     95-401: Missing.

Show »
Length:162
Mass (Da):18,265
Checksum:iAC2A05DB957E6997
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WWR5A0A087WWR5_HUMAN
Cytosolic beta-glucosidase
GBA3
161Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WTY7A0A087WTY7_HUMAN
Cytosolic beta-glucosidase
GBA3
468Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti29P → L in AAH70188 (PubMed:15489334).Curated1
Sequence conflicti134L → W in AAG39217 (PubMed:11784319).Curated1
Sequence conflicti309Y → C in BAD96683 (Ref. 5) Curated1
Sequence conflicti321K → R in BAD96683 (Ref. 5) Curated1
Sequence conflicti326I → T in CAC08178 (PubMed:11389701).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_023587106D → N Rare polymorphism. 1 Publication1
Natural variantiVAR_049298172M → I. Corresponds to variant dbSNP:rs36090352Ensembl.1
Natural variantiVAR_023588213R → P. Corresponds to variant dbSNP:rs17612341Ensembl.1
Natural variantiVAR_023589354C → R. Corresponds to variant dbSNP:rs16873108Ensembl.1
Natural variantiVAR_081439456 – 469Missing Common polymorphism; loss of glucosidase activity toward 4-methylumbelliferyl-beta-D-glucopyranoside. 1 PublicationAdd BLAST14

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_01583595 – 401Missing in isoform 2. 1 PublicationAdd BLAST307

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB017913 mRNA Translation: BAB18741.1
AJ278964 mRNA Translation: CAC08178.1
AF317840 mRNA Translation: AAG39217.1
AF323990 mRNA Translation: AAL37305.1
AK222963 mRNA Translation: BAD96683.1
BC029362 mRNA Translation: AAH29362.1
BC070188 mRNA Translation: AAH70188.1
BC101829 mRNA Translation: AAI01830.1
BC109377 mRNA Translation: AAI09378.1

NCBI Reference Sequences

More...
RefSeqi
NP_001121904.1, NM_001128432.2 [Q9H227-2]
NP_001264154.1, NM_001277225.1
NP_066024.1, NM_020973.4 [Q9H227-1]

Genome annotation databases

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
57733

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:57733

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB017913 mRNA Translation: BAB18741.1
AJ278964 mRNA Translation: CAC08178.1
AF317840 mRNA Translation: AAG39217.1
AF323990 mRNA Translation: AAL37305.1
AK222963 mRNA Translation: BAD96683.1
BC029362 mRNA Translation: AAH29362.1
BC070188 mRNA Translation: AAH70188.1
BC101829 mRNA Translation: AAI01830.1
BC109377 mRNA Translation: AAI09378.1
RefSeqiNP_001121904.1, NM_001128432.2 [Q9H227-2]
NP_001264154.1, NM_001277225.1
NP_066024.1, NM_020973.4 [Q9H227-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2E9LX-ray1.60A1-469[»]
2E9MX-ray1.80A1-469[»]
2JFEX-ray2.70X1-469[»]
2ZOXX-ray1.90A1-469[»]
3VKKX-ray2.00A1-469[»]
SMRiQ9H227
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi121753, 8 interactors
IntActiQ9H227, 2 interactors

Chemistry databases

BindingDBiQ9H227
ChEMBLiCHEMBL3865
SwissLipidsiSLP:000001931

Protein family/group databases

CAZyiGH1, Glycoside Hydrolase Family 1

PTM databases

GlyGeniQ9H227, 2 sites
iPTMnetiQ9H227
PhosphoSitePlusiQ9H227

Polymorphism and mutation databases

BioMutaiGBA3
DMDMi77416427

Proteomic databases

jPOSTiQ9H227
MassIVEiQ9H227
PaxDbiQ9H227
PeptideAtlasiQ9H227
PRIDEiQ9H227
ProteomicsDBi80477 [Q9H227-1]
80478 [Q9H227-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
57733

Genome annotation databases

GeneIDi57733
KEGGihsa:57733

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
57733
DisGeNETi57733

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GBA3
HGNCiHGNC:19069, GBA3
MIMi606619, gene
neXtProtiNX_Q9H227
PharmGKBiPA134861643

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

InParanoidiQ9H227
KOiK05350
PhylomeDBiQ9H227

Enzyme and pathway databases

BioCyciMetaCyc:HS11014-MONOMER
BRENDAi3.2.1.21, 2681
PathwayCommonsiQ9H227
ReactomeiR-HSA-1660662, Glycosphingolipid metabolism
SABIO-RKiQ9H227

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
57733, 0 hits in 70 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
GBA3, human
EvolutionaryTraceiQ9H227

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
GBA3

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
57733
PharosiQ9H227, Tbio

Protein Ontology

More...
PROi
PR:Q9H227
RNActiQ9H227, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Family and domain databases

InterProiView protein in InterPro
IPR001360, Glyco_hydro_1
IPR033132, Glyco_hydro_1_N_CS
IPR017853, Glycoside_hydrolase_SF
PANTHERiPTHR10353, PTHR10353, 1 hit
PfamiView protein in Pfam
PF00232, Glyco_hydro_1, 1 hit
PRINTSiPR00131, GLHYDRLASE1
SUPFAMiSSF51445, SSF51445, 1 hit
PROSITEiView protein in PROSITE
PS00653, GLYCOSYL_HYDROL_F1_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGBA3_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9H227
Secondary accession number(s): Q32LY7
, Q3MIH4, Q53GG8, Q6NSF4, Q8NHT8, Q9H3T4, Q9H4C6
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 11, 2005
Last sequence update: October 11, 2005
Last modified: August 12, 2020
This is version 159 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families
  6. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  7. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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