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GBA1 glucosylceramidase beta 1 [ Homo sapiens (human) ]

Gene ID: 2629, updated on 19-May-2026
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
all
Try the new Gene page
Try the new Transcripts and proteins table
See GBA1 in Genome Data Viewer
Location:
1q22
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (155234452..155244627, complement)
RS_2025_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (154373009..154383185, complement)
RS_2024_09 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

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  1. Mutations in the glucocerebrosidase gene are common in patients with Parkinson's disease from Eastern Canada. Han F, et al. Int J Neurosci, 2016. PMID 26000814
  2. Increased glucocerebrosidase expression and activity in preeclamptic placenta. Jebbink JM, et al. Placenta, 2015 Feb. PMID 25552189
  3. Molecular characterization of type 3 (neuronopathic) Gaucher disease in Thai patients. Suwannarat P, et al. Blood Cells Mol Dis, 2007 Nov-Dec. PMID 17689991
  4. Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients. Tan EK, et al. Arch Neurol, 2007 Jul. PMID 17620502
  5. Dissociation of glucocerebrosidase dimer in solution by its co-factor, saposin C. Gruschus JM, et al. Biochem Biophys Res Commun, 2015 Feb 20. PMID 25600808, Free PMC Article

See all (547) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1.
    Title: The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1.
  2. Occupational Pesticide Exposure in Parkinson's Disease Related to GBA and LRRK2 Variants.
    Title: Occupational Pesticide Exposure in Parkinson's Disease Related to GBA and LRRK2 Variants.
  3. Variant-specific effects of GBA1 mutations on dopaminergic neuron proteostasis.
    Title: Variant-specific effects of GBA1 mutations on dopaminergic neuron proteostasis.
  4. The Molecular Impact of Glucosylceramidase Beta 1 (Gba1) in Parkinson's Disease: a New Genetic State of the Art.
    Title: The Molecular Impact of Glucosylceramidase Beta 1 (Gba1) in Parkinson's Disease: a New Genetic State of the Art.
  5. DJ-1 protects cell death from a mitochondrial oxidative stress due to GBA1 deficiency.
    Title: DJ-1 protects cell death from a mitochondrial oxidative stress due to GBA1 deficiency.
  6. GBA1 rs3115534 Is Associated with REM Sleep Behavior Disorder in Parkinson's Disease in Nigerians.
    Title: GBA1 rs3115534 Is Associated with REM Sleep Behavior Disorder in Parkinson's Disease in Nigerians.
  7. GBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease.
    Title: GBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease.
  8. Altered TFEB subcellular localization in nigral neurons of subjects with incidental, sporadic and GBA-related Lewy body diseases.
    Title: Altered TFEB subcellular localization in nigral neurons of subjects with incidental, sporadic and GBA-related Lewy body diseases.
  9. Peripheral Upregulation of Parkinson's Disease-Associated Genes Encoding alpha-Synuclein, beta-Glucocerebrosidase, and Ceramide Glucosyltransferase in Major Depression.
    Title: Peripheral Upregulation of Parkinson's Disease-Associated Genes Encoding α-Synuclein, β-Glucocerebrosidase, and Ceramide Glucosyltransferase in Major Depression.
  10. Clinicogenetic Characterization of Patients with PD and Heterozygous GBA1 Variants in an Indian Cohort.
    Title: Clinicogenetic Characterization of Patients with PD and Heterozygous GBA1 Variants in an Indian Cohort.
Submit: New GeneRIF Correction See all GeneRIFs (390)

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Gaucher disease perinatal lethal
MedGen: C1842704 OMIM: 608013 GeneReviews: Gaucher Disease
not available
Gaucher disease type I
MedGen: C1961835 OMIM: 230800 GeneReviews: Gaucher Disease
not available
Gaucher disease type II
MedGen: C0268250 OMIM: 230900 GeneReviews: Gaucher Disease
not available
Gaucher disease type III
MedGen: C0268251 OMIM: 231000 GeneReviews: Gaucher Disease
not available
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
MedGen: C1856476 OMIM: 231005 GeneReviews: Gaucher Disease
not available
Lewy body dementia
MedGen: C0752347 OMIM: 127750 GeneReviews: Not available
not available
Parkinson disease, late-onset
MedGen: C3160718 OMIM: 168600 GeneReviews: Monogenic Parkinson Disease Overview, Gaucher Disease
not available

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

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables beta-glucosidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables beta-glucosidase activity IEA
Inferred from Electronic Annotation
more info
  
enables beta-glucosidase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 IEA
Inferred from Electronic Annotation
more info
  
enables glucosylceramidase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables glucosyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables glucosyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
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 IEA
Inferred from Electronic Annotation
more info
  
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 
enables steryl-beta-glucosidase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in autophagy 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 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 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 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 IEA
Inferred from Electronic Annotation
more info
  
involved_in glucosylceramide catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in glycolipid biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in glycolipid biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in glycolipid catabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in lysosomal protein catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in lysosome organization IEA
Inferred from Electronic Annotation
more info
  
involved_in lysosome organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
NOT involved_in mitochondrion organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of MAPK cascade IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of inflammatory response IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of interleukin-6 production IDA
Inferred from Direct Assay
more info
 PubMed 
NOT involved_in neuron projection development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of neuronal action potential IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of TOR signaling 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 IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of macroautophagy TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of membrane potential IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of protein catabolic process 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 skin epidermis development IEA
Inferred from Electronic Annotation
more info
  
involved_in sphingolipid metabolic process 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 IEA
Inferred from Electronic Annotation
more info
  
located_in Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in extracellular exosome HDA PubMed 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
located_in lysosomal lumen IEA
Inferred from Electronic Annotation
more info
  
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 IEA
Inferred from Electronic Annotation
more info
  
located_in lysosomal membrane IPI
Inferred from Physical Interaction
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 IEA
Inferred from Electronic Annotation
more info
  
located_in lysosome IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in trans-Golgi network IEA
Inferred from Electronic Annotation
more info
  
located_in trans-Golgi network ISS
Inferred from Sequence or Structural Similarity
more info
  
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

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_000157.4 → NP_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:117 → 466
    Glyco_hydro_30; Glycosyl hydrolase family 30 TIM-barrel domain
    pfam17189
    Location:469 → 531
    Glyco_hydro_30C; Glycosyl hydrolase family 30 beta sandwich domain

  2. NM_001005741.3 → NP_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:117 → 466
    Glyco_hydro_30; Glycosyl hydrolase family 30 TIM-barrel domain
    pfam17189
    Location:469 → 531
    Glyco_hydro_30C; Glycosyl hydrolase family 30 beta sandwich domain

  3. NM_001005742.3 → NP_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
    Related
    ENSP00000522419.1, ENST00000852360.1
    Conserved Domains (2) summary
    pfam02055
    Location:117 → 466
    Glyco_hydro_30; Glycosyl hydrolase family 30 TIM-barrel domain
    pfam17189
    Location:469 → 531
    Glyco_hydro_30C; Glycosyl hydrolase family 30 beta sandwich domain

  4. NM_001171811.2 → NP_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:1 → 446
    Glyco_hydro_30; O-Glycosyl hydrolase family 30

  5. NM_001171812.2 → NP_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:40 → 484
    Glyco_hydro_30; O-Glycosyl hydrolase family 30

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08

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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P04062.3 GenPept UniProtKB/Swiss-Prot:P04062

Gene LinkOut

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