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UniProtKB - Q9HCG7 (GBA2_HUMAN)

Entry version 148 (07 Apr 2021)
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 glucosylceramide (GlcCer) to free glucose and ceramide (PubMed:17105727, PubMed:30308956). Glucosylceramides 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). Also involved in the transglucosylation of cholesterol, transferring glucose from glucosylceramides, thereby modifying its water solubility and biological properties (By similarity). Under specific conditions, may catalyze the reverse reaction, transferring glucose from cholesteryl-beta-D-glucoside to ceramide (By similarity). Finally, may also play a role in the metabolism of bile acids (PubMed:11489889, PubMed:9111029, PubMed:17080196). It is able to hydrolyze bile acid 3-O-glucosides but also to produce bile acid-glucose conjugates thanks to a bile acid glucosyl transferase activity (PubMed:11489889, PubMed:9111029, PubMed:17080196). However, the relevance of both activities is unclear in vivo (By similarity).By similarity5 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.2 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.By similarity
    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

    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
    <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:ENSG00000070610.14

    <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 203 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, 22 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

    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

    <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. 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 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 <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
    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; ENSP00000367334; ENSG00000070610 [Q9HCG7-2]
    ENST00000378103; ENSP00000367343; ENSG00000070610 [Q9HCG7-1]

    Database of genes from NCBI RefSeq genomes

    More...    GeneIDi    		57704

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...    KEGGi    		hsa:57704

    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

    SMRiQ9HCG7
    ModBaseiSearch...

    Protein-protein interaction databases

    BioGRIDi121728, 22 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, 104 antibodies

    Genome annotation databases

    EnsembliENST00000378094; ENSP00000367334; ENSG00000070610 [Q9HCG7-2]
    ENST00000378103; ENSP00000367343; ENSG00000070610 [Q9HCG7-1]
    GeneIDi57704
    KEGGihsa:57704
    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:ENSG00000070610.14

    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

    Miscellaneous databases

    BioGRID ORCS database of CRISPR phenotype screens

    More...    BioGRID-ORCSi    		57704, 6 hits in 993 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 203 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

    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 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: April 7, 2021
    This is version 148 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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