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UniProtKB - Q9HCG7 (GBA2_HUMAN)

Entry version 152 (25 May 2022)
Sequence version 2 (03 Apr 2007)
Previous versions | rss
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Protein

Non-lysosomal glucosylceramidase

Gene

GBA2

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

Non-lysosomal glucosylceramidase that catalyzes the hydrolysis of glucosylceramides/GlcCers (such as beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine) to free glucose and ceramides (such as N-acylsphing-4-enine) (PubMed:17105727, PubMed:30308956, PubMed:32144204).

GlcCers are membrane glycosphingolipids that have a wide intracellular distribution (By similarity).

They are the main precursors of more complex glycosphingolipids that play a role in cellular growth, differentiation, adhesion, signaling, cytoskeletal dynamics and membrane properties (By similarity).

Involved in the transglucosylation of cholesterol, transfers glucose from GlcCer to cholesterol, thereby modifying its water solubility and biological properties (PubMed:32144204).

Under specific conditions, may catalyze the reverse reaction, transferring glucose from cholesteryl-3-beta-D-glucoside to ceramide (such as N-acylsphing-4-enine) (Probable). May play a role in the metabolism of bile acids (PubMed:11489889, PubMed:9111029, PubMed:17080196).

Able to hydrolyze bile acid 3-O-glucosides as well as to produce bile acid-glucose conjugates thanks to a bile acid glucosyl transferase activity (PubMed:11489889, PubMed:9111029, PubMed:17080196).

Catalyzes the hydrolysis of galactosylceramides/GalCers (such as beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine), as well as the galactosyl transfer between GalCers and cholesterol in vitro with lower activity compared with their activity against GlcCers (PubMed:32144204).

By similarity1 Publication6 Publications

<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 AMP-DMN/N -((5-adamantane-1-yl-methoxy)pentyl)-deoxynojirimycin (PubMed:11489889, PubMed:30308956). Activated by Mn2+, Co2+ and Mg2+ and inhibited by Zn2+ (PubMed:11489889). Enzymatic activity is dependent on membrane association and requires the presence of lipids (PubMed:11489889). The membrane-associated enzyme is not inhibited by condutiriol B epoxide and bromocondutiriol B epoxide (PubMed:11489889).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

kcat is 2500 min(-1) for the hydrolysis of beta-D-glucosyl-(1->3)-O-lithocholate (PubMed:9111029). kcat is 1300 min(-1) for the hydrolysis of beta-D-glucosyl-(1->3)-O-chenodeoxycholate (PubMed:9111029). kcat is 4700 min(-1) for the hydrolysis of 4-methylumbelliferyl beta-D-glucoside (PubMed:9111029).1 Publication
  1. KM=1.7 µM for beta-D-glucosyl-(1->3)-O-lithocholate1 Publication
  2. KM=6.2 µM for beta-D-glucosyl-(1->3)-O-chenodeoxycholate1 Publication
  3. KM=210 µM for 4-methylumbelliferyl beta-D-glucoside1 Publication

pH dependencei

Optimum pH is 5.0 for the hydrolysis of bile acid glucosides.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: sphingolipid metabolism

This protein is involved in the pathway sphingolipid metabolism, which is part of Lipid metabolism.1 Publication2 Publications
View all proteins of this organism that are known to be involved in the pathway sphingolipid metabolism and in Lipid metabolism.

Pathwayi: cholesterol metabolism

This protein is involved in the pathway cholesterol metabolism, which is part of Steroid metabolism.1 Publication
View all proteins of this organism that are known to be involved in the pathway cholesterol metabolism and in Steroid metabolism.

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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, Glycosyltransferase, Hydrolase, Transferase
Biological processCholesterol metabolism, Lipid metabolism, Sphingolipid metabolism, Steroid metabolism, Sterol metabolism

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		3.2.1.45, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9HCG7

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1660662, Glycosphingolipid metabolism

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		Q9HCG7

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q9HCG7

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi		UPA00222
UPA00296

Protein family/group databases

Carbohydrate-Active enZymes

More...CAZyi		GH116, Glycoside Hydrolase Family 116

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...SwissLipidsi		SLP:000001382
SLP:000001932 [Q9HCG7-1]

<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%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:
Non-lysosomal glucosylceramidaseCurated (EC:3.2.1.452 Publications)
Short name:
NLGase1 Publication
Alternative name(s):
Beta-glucocerebrosidase 2
Short name:
Beta-glucosidase 2
Bile acid beta-glucosidase GBA21 Publication
Bile acid glucosyl transferase GBA21 Publication
Cholesterol glucosyltransferase GBA2By similarity (EC:2.4.1.-By similarity)
Cholesteryl-beta-glucosidase GBA2By similarity (EC:3.2.1.-By similarity)
Glucosylceramidase 2
Non-lysosomal cholesterol glycosyltransferaseCurated
Non-lysosomal galactosylceramidaseCurated (EC:3.2.1.461 Publication)
Non-lysosomal glycosylceramidaseCurated
<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:GBA2Imported
Synonyms:KIAA1605Imported, SPG46Imported
ORF Names:AD035
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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: Chromosome 9

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:18986, GBA2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		609471, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9HCG7

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000070610

<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

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, Membrane

<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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Spastic paraplegia 46, autosomal recessive (SPG46)5 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging.
Related information in OMIM
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_081406121 – 927Missing in SPG46; loss of glucosylceramide catabolic process. 1 Publication1 PublicationAdd BLAST807
Natural variantiVAR_081407173 – 927Missing in SPG46; loss of glucosylceramide catabolic process. 1 Publication1 PublicationAdd BLAST755
Natural variantiVAR_081408234 – 927Missing in SPG46; loss of glucosylceramide catabolic process. 1 Publication1 PublicationAdd BLAST694
Natural variantiVAR_081409340 – 927Missing in SPG46; loss of glucosylceramide catabolic process. 1 Publication1 PublicationAdd BLAST588
Natural variantiVAR_081410594D → H in SPG46; loss of glucosylceramide catabolic process. 1 PublicationCorresponds to variant dbSNP:rs398123064EnsemblClinVar.1
Natural variantiVAR_069634630R → W in SPG46; loss of glucosylceramide catabolic process. 1 Publication1 PublicationCorresponds to variant dbSNP:rs398123012EnsemblClinVar.1
Natural variantiVAR_069635873R → H in SPG46; loss of glucosylceramide catabolic process. 1 Publication1 PublicationCorresponds to variant dbSNP:rs398123015EnsemblClinVar.1

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>Mutagenesisi419F → V: Loss of glucosylceramide catabolic process. 1 Publication1

Keywords - Diseasei

Disease variant, Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

DisGeNET

More...DisGeNETi		57704

MalaCards human disease database

More...MalaCardsi		GBA2
MIMi614409, phenotype

Open Targets

More...OpenTargetsi		ENSG00000070610

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		352641, Autosomal recessive cerebellar ataxia with late-onset spasticity
320391, Autosomal recessive spastic paraplegia type 46

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA38773

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9HCG7, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL3761

DrugCentral

More...DrugCentrali		Q9HCG7

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GBA2

Domain mapping of disease mutations (DMDM)

More...DMDMi		143018392

<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_00002837581 – 927Non-lysosomal glucosylceramidaseAdd BLAST927

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9HCG7

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9HCG7

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9HCG7

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9HCG7

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

More...PaxDbi		Q9HCG7

PeptideAtlas

More...PeptideAtlasi		Q9HCG7

PRoteomics IDEntifications database

More...PRIDEi		Q9HCG7

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		81709 [Q9HCG7-1]
81710 [Q9HCG7-2]
81711 [Q9HCG7-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9HCG7

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

More...PhosphoSitePlusi		Q9HCG7

<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

Widely expressed (PubMed:11489889). Mainly expressed in brain, heart, skeletal muscle, kidney and placenta and expressed at lower levels in liver, spleen, small intestine and lung (PubMed:11489889). Detectable in colon, thymus and peripheral blood leukocytes (PubMed:11489889).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000070610, Expressed in left lobe of thyroid gland and 204 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9HCG7, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9HCG7, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000070610, Low tissue specificity

<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		121728, 29 interactors

Protein interaction database and analysis system

More...IntActi		Q9HCG7, 12 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000367343

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q9HCG7

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9HCG7, 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

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q9HCG7

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

More...SMRi		Q9HCG7

Database of comparative protein structure models

More...ModBasei		Search...

<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>Regioni32 – 62DisorderedSequence analysisAdd BLAST31

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi43 – 59Basic and acidic residuesSequence analysisAdd BLAST17

<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

Belongs to the non-lysosomal glucosylceramidase family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2119, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000010998

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_006322_1_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9HCG7

Identification of Orthologs from Complete Genome Data

More...OMAi		HDLGAPN

Database of Orthologous Groups

More...OrthoDBi		207392at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9HCG7

TreeFam database of animal gene trees

More...TreeFami		TF313888

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.50.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR008928, 6-hairpin_glycosidase_sf
IPR012341, 6hp_glycosidase-like_sf
IPR014551, B_Glucosidase_GBA2-typ
IPR006775, GH116_catalytic
IPR024462, GH116_N

Pfam protein domain database

More...Pfami		View protein in Pfam
PF04685, DUF608, 1 hit
PF12215, Glyco_hydr_116N, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF028944, Beta_gluc_GBA2, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48208, SSF48208, 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 (3+)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 3 <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 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9HCG7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><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
MGTQDPGNMG TGVPASEQIS CAKEDPQVYC PEETGGTKDV QVTDCKSPED 
        60         70         80         90        100
SRPPKETDCC NPEDSGQLMV SYEGKAMGYQ VPPFGWRICL AHEFTEKRKP 
       110        120        130        140        150
FQANNVSLSN MIKHIGMGLR YLQWWYRKTH VEKKTPFIDM INSVPLRQIY 
       160        170        180        190        200
GCPLGGIGGG TITRGWRGQF CRWQLNPGMY QHRTVIADQF TVCLRREGQT 
       210        220        230        240        250
VYQQVLSLER PSVLRSWNWG LCGYFAFYHA LYPRAWTVYQ LPGQNVTLTC 
       260        270        280        290        300
RQITPILPHD YQDSSLPVGV FVWDVENEGD EALDVSIMFS MRNGLGGGDD 
       310        320        330        340        350
APGGLWNEPF CLERSGETVR GLLLHHPTLP NPYTMAVAAR VTAATTVTHI 
       360        370        380        390        400
TAFDPDSTGQ QVWQDLLQDG QLDSPTGQST PTQKGVGIAG AVCVSSKLRP 
       410        420        430        440        450
RGQCRLEFSL AWDMPRIMFG AKGQVHYRRY TRFFGQDGDA APALSHYALC 
       460        470        480        490        500
RYAEWEERIS AWQSPVLDDR SLPAWYKSAL FNELYFLADG GTVWLEVLED 
       510        520        530        540        550
SLPEELGRNM CHLRPTLRDY GRFGYLEGQE YRMYNTYDVH FYASFALIML 
       560        570        580        590        600
WPKLELSLQY DMALATLRED LTRRRYLMSG VMAPVKRRNV IPHDIGDPDD 
       610        620        630        640        650
EPWLRVNAYL IHDTADWKDL NLKFVLQVYR DYYLTGDQNF LKDMWPVCLA 
       660        670        680        690        700
VMESEMKFDK DHDGLIENGG YADQTYDGWV TTGPSAYCGG LWLAAVAVMV 
       710        720        730        740        750
QMAALCGAQD IQDKFSSILS RGQEAYERLL WNGRYYNYDS SSRPQSRSVM 
       760        770        780        790        800
SDQCAGQWFL KACGLGEGDT EVFPTQHVVR ALQTIFELNV QAFAGGAMGA 
       810        820        830        840        850
VNGMQPHGVP DKSSVQSDEV WVGVVYGLAA TMIQEGLTWE GFQTAEGCYR 
       860        870        880        890        900
TVWERLGLAF QTPEAYCQQR VFRSLAYMRP LSIWAMQLAL QQQQHKKASW 
       910        920 
PKVKQGTGLR TGPMFGPKEA MANLSPE
Length:927
Mass (Da):104,649
Last modified:April 3, 2007 - 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:i1F6879D6E20A2B1D
GO
Isoform 2 (identifier: Q9HCG7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     836-927: GLTWEGFQTA...KEAMANLSPE → LLPSGFCLWV...VEVALQRVPS

Show »
Length:877
Mass (Da):98,737
Checksum:i1AF652DAF751EAA5
GO
Isoform 3 (identifier: Q9HCG7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-287: Missing.

Show »
Length:640
Mass (Da):72,111
Checksum:iC4DA432626E5B7FD
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MRV1A0A0A0MRV1_HUMAN
Non-lysosomal glucosylceramidase
GBA2
172Annotation 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAG44660 differs from that shown. Reason: Frameshift.Curated
The sequence BAB13431 differs from that shown. Reason: Erroneous initiation.Curated

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 conflicti60C → Y in BAB55430 (PubMed:14702039).Curated1
Sequence conflicti222C → R in BAB55430 (PubMed:14702039).Curated1
Sequence conflicti482N → K in BAB55430 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_081406121 – 927Missing in SPG46; loss of glucosylceramide catabolic process. 1 Publication1 PublicationAdd BLAST807
Natural variantiVAR_081407173 – 927Missing in SPG46; loss of glucosylceramide catabolic process. 1 Publication1 PublicationAdd BLAST755
Natural variantiVAR_081408234 – 927Missing in SPG46; loss of glucosylceramide catabolic process. 1 Publication1 PublicationAdd BLAST694
Natural variantiVAR_081409340 – 927Missing in SPG46; loss of glucosylceramide catabolic process. 1 Publication1 PublicationAdd BLAST588
Natural variantiVAR_081410594D → H in SPG46; loss of glucosylceramide catabolic process. 1 PublicationCorresponds to variant dbSNP:rs398123064EnsemblClinVar.1
Natural variantiVAR_069634630R → W in SPG46; loss of glucosylceramide catabolic process. 1 Publication1 PublicationCorresponds to variant dbSNP:rs398123012EnsemblClinVar.1
Natural variantiVAR_069635873R → H in SPG46; loss of glucosylceramide catabolic process. 1 Publication1 PublicationCorresponds to variant dbSNP:rs398123015EnsemblClinVar.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0243831 – 287Missing in isoform 3. 1 PublicationAdd BLAST287
Alternative sequenceiVSP_024384836 – 927GLTWE…NLSPE → LLPSGFCLWVIVISSTCWEL LEGKDSTASIYPVEVALQRV PS in isoform 2. 1 PublicationAdd BLAST92

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AJ309567 mRNA Translation: CAC83792.1
AB046825 mRNA Translation: BAB13431.1 Different initiation.
AK027884 mRNA Translation: BAB55430.1
AL834306 mRNA Translation: CAD38976.1
AL133410 Genomic DNA No translation available.
CH471071 Genomic DNA Translation: EAW58348.1
CH471071 Genomic DNA Translation: EAW58349.1
BC011363 mRNA Translation: AAH11363.1
AF258662 mRNA Translation: AAG44660.1 Frameshift.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS6589.1 [Q9HCG7-1]
CCDS83363.1 [Q9HCG7-2]

NCBI Reference Sequences

More...RefSeqi		NP_001317589.1, NM_001330660.1 [Q9HCG7-2]
NP_065995.1, NM_020944.2 [Q9HCG7-1]
XP_016870435.1, XM_017014946.1 [Q9HCG7-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000378094.4; ENSP00000367334.4; ENSG00000070610.14 [Q9HCG7-2]
ENST00000378103.7; ENSP00000367343.3; ENSG00000070610.14

Database of genes from NCBI RefSeq genomes

More...GeneIDi		57704

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:57704

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000378103.7; ENSP00000367343.3; NM_020944.3; NP_065995.1

UCSC genome browser

More...UCSCi		uc003zxw.3, human [Q9HCG7-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AJ309567 mRNA Translation: CAC83792.1
AB046825 mRNA Translation: BAB13431.1 Different initiation.
AK027884 mRNA Translation: BAB55430.1
AL834306 mRNA Translation: CAD38976.1
AL133410 Genomic DNA No translation available.
CH471071 Genomic DNA Translation: EAW58348.1
CH471071 Genomic DNA Translation: EAW58349.1
BC011363 mRNA Translation: AAH11363.1
AF258662 mRNA Translation: AAG44660.1 Frameshift.
CCDSiCCDS6589.1 [Q9HCG7-1]
CCDS83363.1 [Q9HCG7-2]
RefSeqiNP_001317589.1, NM_001330660.1 [Q9HCG7-2]
NP_065995.1, NM_020944.2 [Q9HCG7-1]
XP_016870435.1, XM_017014946.1 [Q9HCG7-3]

3D structure databases

AlphaFoldDBiQ9HCG7
SMRiQ9HCG7
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi121728, 29 interactors
IntActiQ9HCG7, 12 interactors
STRINGi9606.ENSP00000367343

Chemistry databases

BindingDBiQ9HCG7
ChEMBLiCHEMBL3761
DrugCentraliQ9HCG7
SwissLipidsiSLP:000001382
SLP:000001932 [Q9HCG7-1]

Protein family/group databases

CAZyiGH116, Glycoside Hydrolase Family 116

PTM databases

iPTMnetiQ9HCG7
PhosphoSitePlusiQ9HCG7

Genetic variation databases

BioMutaiGBA2
DMDMi143018392

Proteomic databases

EPDiQ9HCG7
jPOSTiQ9HCG7
MassIVEiQ9HCG7
MaxQBiQ9HCG7
PaxDbiQ9HCG7
PeptideAtlasiQ9HCG7
PRIDEiQ9HCG7
ProteomicsDBi81709 [Q9HCG7-1]
81710 [Q9HCG7-2]
81711 [Q9HCG7-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		11711, 111 antibodies from 18 providers

The DNASU plasmid repository

More...DNASUi		57704

Genome annotation databases

EnsembliENST00000378094.4; ENSP00000367334.4; ENSG00000070610.14 [Q9HCG7-2]
ENST00000378103.7; ENSP00000367343.3; ENSG00000070610.14
GeneIDi57704
KEGGihsa:57704
MANE-SelectiENST00000378103.7; ENSP00000367343.3; NM_020944.3; NP_065995.1
UCSCiuc003zxw.3, human [Q9HCG7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		57704
DisGeNETi57704

GeneCards: human genes, protein and diseases

More...GeneCardsi		GBA2
HGNCiHGNC:18986, GBA2
HPAiENSG00000070610, Low tissue specificity
MalaCardsiGBA2
MIMi609471, gene
614409, phenotype
neXtProtiNX_Q9HCG7
OpenTargetsiENSG00000070610
Orphaneti352641, Autosomal recessive cerebellar ataxia with late-onset spasticity
320391, Autosomal recessive spastic paraplegia type 46
PharmGKBiPA38773
VEuPathDBiHostDB:ENSG00000070610

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2119, Eukaryota
GeneTreeiENSGT00390000010998
HOGENOMiCLU_006322_1_1_1
InParanoidiQ9HCG7
OMAiHDLGAPN
OrthoDBi207392at2759
PhylomeDBiQ9HCG7
TreeFamiTF313888

Enzyme and pathway databases

UniPathwayiUPA00222
UPA00296
BRENDAi3.2.1.45, 2681
PathwayCommonsiQ9HCG7
ReactomeiR-HSA-1660662, Glycosphingolipid metabolism
SABIO-RKiQ9HCG7
SignaLinkiQ9HCG7

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		57704, 10 hits in 1078 CRISPR screens

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

More...ChiTaRSi		GBA2, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		GBA2

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

More...GenomeRNAii		57704
PharosiQ9HCG7, Tchem

Protein Ontology

More...PROi		PR:Q9HCG7
RNActiQ9HCG7, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000070610, Expressed in left lobe of thyroid gland and 204 other tissues
ExpressionAtlasiQ9HCG7, baseline and differential
GenevisibleiQ9HCG7, HS

Family and domain databases

Gene3Di1.50.10.10, 1 hit
InterProiView protein in InterPro
IPR008928, 6-hairpin_glycosidase_sf
IPR012341, 6hp_glycosidase-like_sf
IPR014551, B_Glucosidase_GBA2-typ
IPR006775, GH116_catalytic
IPR024462, GH116_N
PfamiView protein in Pfam
PF04685, DUF608, 1 hit
PF12215, Glyco_hydr_116N, 1 hit
PIRSFiPIRSF028944, Beta_gluc_GBA2, 1 hit
SUPFAMiSSF48208, SSF48208, 1 hit

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 nameiGBA2_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: Q9HCG7
Secondary accession number(s): D3DRP2
, Q5TCV6, Q96A51, Q96LY1, Q96SJ2, Q9H2L8
<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: April 3, 2007
Last sequence update: April 3, 2007
Last modified: May 25, 2022
This is version 152 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

Direct protein sequencing, Reference proteome

Documents

  1. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
  2. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  3. Human entries with genetic variants
    List of human entries with genetic variants
  4. Human variants curated from literature reports
    Index of human variants curated from literature reports
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  7. SIMILARITY comments
    Index of protein domains and families
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