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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

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.3 Publications

Caution

GBA3 is both a gene and a pseudogene in the human population, the reference genome corresponding currently to the non-functional allele with a stop codon at position 456. The reference genome allele is the major one in at least one human population and should therefore not be changed to the functional allele of the gene by the Genome Reference Consortium (GRC). The sequence shown here with a Tyr at that position is the one of the functional protein.Curated

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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

  • Hydrolysis of terminal, non-reducing beta-D-glucosyl residues with release of beta-D-glucose. EC:3.2.1.21

<p>This subsection of the ‘Function’ 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 and sodium taurocholate.2 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

  1. KM=40 µM for 4-methylumbelliferyl-beta-D-glucopyranoside2 Publications
  2. KM=50 µM for 4-methylumbelliferyl-beta-D-galactopyranoside2 Publications
  3. KM=370 µM for 4-nitrophenyl-beta-D-fucopyranoside2 Publications
  4. KM=570 µM for 4-nitrophenyl-alpha-D-arabinopyranoside2 Publications
  5. KM=1.76 mM for 4-nitrophenyl-beta-D-glucopyranoside2 Publications
  6. KM=3.14 mM for 4-nitrophenyl-beta-D-galactopyranoside2 Publications
  7. KM=1.58 mM for 4-nitrophenyl-beta-D-xylopyranoside2 Publications
  8. KM=52.6 mM for 4-nitrophenyl-beta-L-arabinopyranoside2 Publications
  9. KM=35 µM for genistein-7-glucoside2 Publications
  10. KM=118 µM for daidzein-7-glucoside2 Publications
  11. KM=31.8 µM for quercetin-4'-glucoside2 Publications
  12. KM=42.2 µM for quercetin-7-glucoside2 Publications
  13. KM=21.5 µM for apigenin-7-glucoside2 Publications
  14. KM=10 µM for luteolin-4'-glucoside2 Publications
  15. KM=50 µM for luteolin-7-glucoside2 Publications
  16. KM=432 µM for naringenin-7-glucoside2 Publications
  17. KM=253 µM for eriodictyol-7-glucoside2 Publications
  1. Vmax=10 µmol/min/mg enzyme toward 4-nitrophenyl-beta-D-glucopyranoside2 Publications
  2. Vmax=1.73 µmol/min/mg enzyme toward genistein-7-glucoside2 Publications
  3. Vmax=2.75 µmol/min/mg enzyme toward daidzein-7-glucoside2 Publications
  4. Vmax=1.19 µmol/min/mg enzyme toward quercetin-4'-glucoside2 Publications
  5. Vmax=0.77 µmol/min/mg enzyme toward quercetin-7-glucoside2 Publications
  6. Vmax=1.30 µmol/min/mg enzyme toward apigenin-7-glucoside2 Publications
  7. Vmax=1.30 µmol/min/mg enzyme toward luteolin-4'-glucoside2 Publications
  8. Vmax=2.85 µmol/min/mg enzyme toward luteolin-7-glucoside2 Publications
  9. Vmax=0.93 µmol/min/mg enzyme toward naringenin-7-glucoside2 Publications
  10. Vmax=0.90 µmol/min/mg enzyme toward eriodictyol-7-glucoside2 Publications

pH dependencei

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 4.2 Publications

Temperature dependencei

Optimum temperature is 50 degrees Celsius. Stable more than 24 hours at 37 degrees Celsius. Loses activity at 58 degrees Celsius.2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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 ‘Function’ 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

More...
BioCyci
MetaCyc:HS11014-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
3.2.1.21 2681

Reactome - a knowledgebase of biological pathways and processes

More...
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

<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_and_taxonomy_section">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-glucosidase (EC:3.2.1.21)
Alternative name(s):
Cytosolic beta-glucosidase-like protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:GBA3
Synonyms:CBG, CBGL1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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

More...
HGNCi
HGNC:19069 GBA3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606619 gene

neXtProt; the human protein knowledge platform

More...
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; 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_and_biotech_section">'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: Reduces catalytic activity 2-fold. 2 Publications1
Mutagenesisi165E → Q: Loss of catalytic activity. 2 Publications1
Mutagenesisi168V → Y: No change in temperature or pH dependence. Decrease in specific activity. 1 Publication1
Mutagenesisi225F → S: Decrease in specific activity. 1 Publication1
Mutagenesisi308Y → F or A: Decrease in specific activity. 1 Publication1
Mutagenesisi373E → D: Reduces catalytic activity 2-fold. 1 Publication1
Mutagenesisi373E → Q: Loss of catalytic activity. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
57733

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134861643

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3865

Polymorphism and mutation databases

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.<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_processing_section">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.

Proteomic databases

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

More...
PaxDbi
Q9H227

PeptideAtlas

More...
PeptideAtlasi
Q9H227

PRoteomics IDEntifications database

More...
PRIDEi
Q9H227

ProteomicsDB human proteome resource

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ProteomicsDBi
80477
80478 [Q9H227-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
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

Gene expression databases

CleanEx database of gene expression profiles

More...
CleanExi
HS_GBA3

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
121753, 7 interactors

Protein interaction database and analysis system

More...
IntActi
Q9H227, 2 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000471397

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q9H227

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9H227

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

More...
SMRi
Q9H227

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0626 Eukaryota
COG2723 LUCA

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG053101

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9H227

KEGG Orthology (KO)

More...
KOi
K05350

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9H227

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
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, 2 hits

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00232 Glyco_hydro_1, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.<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 'canonical' 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

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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<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

More...
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]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.653107

Genome annotation databases

Database of genes from NCBI RefSeq genomes

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GeneIDi
57733

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
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]
UniGeneiHs.653107

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[»]
ProteinModelPortaliQ9H227
SMRiQ9H227
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121753, 7 interactors
IntActiQ9H227, 2 interactors
STRINGi9606.ENSP00000471397

Chemistry databases

BindingDBiQ9H227
ChEMBLiCHEMBL3865

Protein family/group databases

CAZyiGH1 Glycoside Hydrolase Family 1

PTM databases

iPTMnetiQ9H227
PhosphoSitePlusiQ9H227

Polymorphism and mutation databases

DMDMi77416427

Proteomic databases

PaxDbiQ9H227
PeptideAtlasiQ9H227
PRIDEiQ9H227
ProteomicsDBi80477
80478 [Q9H227-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
57733
Structural Biology KnowledgebaseSearch...

Genome annotation databases

GeneIDi57733
KEGGihsa:57733

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
57733
DisGeNETi57733

GeneCards: human genes, protein and diseases

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GeneCardsi
GBA3
HGNCiHGNC:19069 GBA3
MIMi606619 gene
neXtProtiNX_Q9H227
PharmGKBiPA134861643

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0626 Eukaryota
COG2723 LUCA
HOVERGENiHBG053101
InParanoidiQ9H227
KOiK05350
PhylomeDBiQ9H227

Enzyme and pathway databases

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

Miscellaneous databases

EvolutionaryTraceiQ9H227

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
GBA3

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

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GenomeRNAii
57733

Protein Ontology

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PROi
PR:Q9H227

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

CleanExiHS_GBA3

Family and domain databases

InterProiView protein in InterPro
IPR001360 Glyco_hydro_1
IPR033132 Glyco_hydro_1_N_CS
IPR017853 Glycoside_hydrolase_SF
PANTHERiPTHR10353 PTHR10353, 2 hits
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

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ProtoNeti
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<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_and_isoforms">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: December 5, 2018
This is version 147 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, Complete proteome, Reference proteome

Documents

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