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    GBA1 glucosylceramidase beta 1 [ Homo sapiens (human) ]

    Gene ID: 2629, updated on 13-May-2024

    Summary

    Official Symbol
    GBA1provided by HGNC
    Official Full Name
    glucosylceramidase beta 1provided by HGNC
    Primary source
    HGNC:HGNC:4177
    See related
    Ensembl:ENSG00000177628 MIM:606463; AllianceGenome:HGNC:4177
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GBA; GCB; GLUC
    Summary
    This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
    Expression
    Ubiquitous expression in thyroid (RPKM 22.8), placenta (RPKM 20.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    1q22
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (155234452..155244627, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (154373009..154383185, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (155204243..155214418, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene GBAP1 recombination region Neighboring gene metaxin 1 Neighboring gene glucosylceramidase beta 1 like, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:155196727-155197304 Neighboring gene GBA recombination region Neighboring gene metaxin 1 like, pseudogene Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:155213585-155214548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:155219706-155220308 Neighboring gene endosomal transmembrane epsin interactor 3 Neighboring gene secretory carrier membrane protein 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Gaucher disease
    MedGen: C0017205 GeneReviews: Gaucher Disease
    Compare labs
    Gaucher disease perinatal lethal
    MedGen: C1842704 OMIM: 608013 GeneReviews: Gaucher Disease
    Compare labs
    Gaucher disease type I
    MedGen: C1961835 OMIM: 230800 GeneReviews: Gaucher Disease
    Compare labs
    Gaucher disease type II
    MedGen: C0268250 OMIM: 230900 GeneReviews: Gaucher Disease
    Compare labs
    Gaucher disease type III
    MedGen: C0268251 OMIM: 231000 GeneReviews: Gaucher Disease
    Compare labs
    Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
    MedGen: C1856476 OMIM: 231005 GeneReviews: Gaucher Disease
    Compare labs
    Lewy body dementia
    MedGen: C0752347 OMIM: 127750 GeneReviews: Not available
    Compare labs
    Parkinson disease, late-onset Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.
    EBI GWAS Catalog
    Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
    EBI GWAS Catalog
    Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
    EBI GWAS Catalog
    Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of glucosidase, beta, acid (GBA; GLUC) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Glucocerebrosidase fusion proteins with the HIV-1 Tat transduction domain are internalized by cells and localize to endosomes and lysosomes, suggesting a novel strategy for generating therapeutic enzymes for Gaucher disease enzyme replacement therapy PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables galactosylceramidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables glucosylceramidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables glucosylceramidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables glucosylceramidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables glucosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables scavenger receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables steryl-beta-glucosidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in T cell differentiation in thymus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in antigen processing and presentation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in autophagosome organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in autophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in beta-glucoside catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in brain morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell maturation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to starvation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to tumor necrosis factor IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ceramide biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cerebellar Purkinje cell layer formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cholesterol metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in determination of adult lifespan IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of skin barrier IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glucosylceramide catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in glucosylceramide catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in glucosylceramide catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in hematopoietic stem cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in homeostasis of number of cells IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lipid glycosylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in lipid storage IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lymphocyte migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lysosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in microglia differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in microglial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    NOT involved_in mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in motor behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of MAP kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of inflammatory response IC
    Inferred by Curator
    more info
    PubMed 
    involved_in negative regulation of interleukin-6 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of protein-containing complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neuromuscular process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    NOT involved_in neuron projection development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of neuronal action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of protein dephosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein lipidation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of protein-containing complex disassembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pyramidal neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of TOR signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of lysosomal protein catabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of macroautophagy TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in respiratory electron transport chain IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to dexamethasone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to estrogen IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to pH IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to testosterone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to thyroid hormone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sphingosine biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in termination of signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in lysosomal lumen ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in lysosomal membrane HDA PubMed 
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosomal membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in lysosomal membrane TAS
    Traceable Author Statement
    more info
     
    located_in lysosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in trans-Golgi network ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    lysosomal acid glucosylceramidase
    Names
    D-glucosyl-N-acylsphingosine glucohydrolase
    SGTase
    acid beta-glucosidase
    alglucerase
    beta-GC
    beta-glucocerebrosidase
    beta-glucosylceramidase 1
    cholesterol glucosyltransferase
    cholesteryl-beta-glucosidase
    glucocerebrosidase
    glucosidase, beta, acid
    glucosylceramidase-like protein
    imiglucerase
    lysosomal acid GCase
    lysosomal cholesterol glycosyltransferase
    lysosomal galactosylceramidase
    lysosomal glucocerebrosidase
    lysosomal glycosylceramidase
    NP_000148.2
    NP_001005741.1
    NP_001005742.1
    NP_001165282.1
    NP_001165283.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009783.1 RefSeqGene

      Range
      8449..15246
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000157.4NP_000148.2  lysosomal acid glucosylceramidase isoform 1 precursor

      See identical proteins and their annotated locations for NP_000148.2

      Status: REVIEWED

      Source sequence(s)
      BC003356, DC297079
      Consensus CDS
      CCDS1102.1
      UniProtKB/Swiss-Prot
      A8K796, B7Z5G2, B7Z6S1, J3KQG4, J3KQK9, P04062, Q16545, Q4VX22, Q6I9R6, Q9UMJ8
      UniProtKB/TrEMBL
      A0A068F658, A0A0G2JLB3, A0A223PQI4, B2R6A7
      Related
      ENSP00000357357.3, ENST00000368373.8
      Conserved Domains (2) summary
      pfam02055
      Location:117466
      Glyco_hydro_30; Glycosyl hydrolase family 30 TIM-barrel domain
      pfam17189
      Location:469531
      Glyco_hydro_30C; Glycosyl hydrolase family 30 beta sandwich domain
    2. NM_001005741.3NP_001005741.1  lysosomal acid glucosylceramidase isoform 1 precursor

      See identical proteins and their annotated locations for NP_001005741.1

      Status: REVIEWED

      Source sequence(s)
      AL713999
      Consensus CDS
      CCDS1102.1
      UniProtKB/Swiss-Prot
      A8K796, B7Z5G2, B7Z6S1, J3KQG4, J3KQK9, P04062, Q16545, Q4VX22, Q6I9R6, Q9UMJ8
      UniProtKB/TrEMBL
      A0A068F658, A0A0G2JLB3, A0A223PQI4, B2R6A7
      Related
      ENSP00000314508.5, ENST00000327247.9
      Conserved Domains (2) summary
      pfam02055
      Location:117466
      Glyco_hydro_30; Glycosyl hydrolase family 30 TIM-barrel domain
      pfam17189
      Location:469531
      Glyco_hydro_30C; Glycosyl hydrolase family 30 beta sandwich domain
    3. NM_001005742.3NP_001005742.1  lysosomal acid glucosylceramidase isoform 1 precursor

      See identical proteins and their annotated locations for NP_001005742.1

      Status: REVIEWED

      Source sequence(s)
      AL713999
      Consensus CDS
      CCDS1102.1
      UniProtKB/Swiss-Prot
      A8K796, B7Z5G2, B7Z6S1, J3KQG4, J3KQK9, P04062, Q16545, Q4VX22, Q6I9R6, Q9UMJ8
      UniProtKB/TrEMBL
      A0A068F658, A0A0G2JLB3, A0A223PQI4, B2R6A7
      Conserved Domains (2) summary
      pfam02055
      Location:117466
      Glyco_hydro_30; Glycosyl hydrolase family 30 TIM-barrel domain
      pfam17189
      Location:469531
      Glyco_hydro_30C; Glycosyl hydrolase family 30 beta sandwich domain
    4. NM_001171811.2NP_001165282.1  lysosomal acid glucosylceramidase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL713999
      Consensus CDS
      CCDS53373.1
      UniProtKB/TrEMBL
      A0A0G2JNZ5
      Related
      ENSP00000397986.2, ENST00000428024.3
      Conserved Domains (1) summary
      cl23815
      Location:1446
      Glyco_hydro_30; O-Glycosyl hydrolase family 30
    5. NM_001171812.2NP_001165283.1  lysosomal acid glucosylceramidase isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AL713999
      Consensus CDS
      CCDS53374.1
      UniProtKB/TrEMBL
      A0A0G2JNZ0
      Related
      ENSP00000402577.2, ENST00000427500.7
      Conserved Domains (1) summary
      cl23815
      Location:40484
      Glyco_hydro_30; O-Glycosyl hydrolase family 30

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      155234452..155244627 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003315906.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      39475..49650 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      154373009..154383185 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001005749.1: Suppressed sequence

      Description
      NM_001005749.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    2. NM_001005750.1: Suppressed sequence

      Description
      NM_001005750.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.