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GBA glucosylceramidase beta [ Homo sapiens (human) ]

Gene ID: 2629, updated on 5-Jan-2022

Summary

Official Symbol
GBAprovided by HGNC
Official Full Name
glucosylceramidase betaprovided by HGNC
Primary source
HGNC:HGNC:4177
See related
Ensembl:ENSG00000177628 MIM:606463
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
GCB; GBA1; 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
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Genomic context

See GBA in Genome Data Viewer
Location:
1q22
Exon count:
12
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (155234452..155244627, complement)
105.20201022 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 pseudogene 1 Neighboring gene GBA recombination region Neighboring gene metaxin 1 pseudogene 1 Neighboring gene family with sequence similarity 189 member B 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Gaucher disease
MedGen: C0017205 GeneReviews: Gaucher Disease
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Gaucher disease type 3C
MedGen: C1856476 OMIM: 231005 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, perinatal lethal
MedGen: C1842704 OMIM: 608013 GeneReviews: Gaucher Disease
Compare labs
Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.
GeneReviews: Not available
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
GeneReviews: Not available
Lewy body dementia
MedGen: C0752347 OMIM: 127750 GeneReviews: Not available
Compare labs
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
GeneReviews: Not available
Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.
GeneReviews: Not available
Parkinson disease, late-onset
MedGen: C3160718 OMIM: 168600 GeneReviews: Parkinson Disease Overview
Compare labs

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables glucosylceramidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
NOT involved_in cell death in response to oxidative stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 glucosylceramide catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 neuron death IGI
Inferred from Genetic Interaction
more info
PubMed 
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 metabolic process 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 positive regulation of proteolysis involved in cellular protein catabolic process IMP
Inferred from Mutant Phenotype
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 cellular protein metabolic process 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 regulation of water loss via skin IEA
Inferred from Electronic Annotation
more info
 
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 skin morphogenesis 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 extrinsic component of membrane NAS
Non-traceable Author Statement
more info
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
cholesterol glucosyltransferase
cholesteryl-beta-glucosidase
glucocerebrosidase
glucosidase, beta, acid
glucosylceramidase-like protein
imiglucerase
lysosomal acid GCase
lysosomal glucocerebrosidase
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
    5071..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
    P04062
    UniProtKB/TrEMBL
    A0A068F658
    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
    P04062
    UniProtKB/TrEMBL
    A0A068F658, B7Z6S9
    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
    P04062
    UniProtKB/TrEMBL
    A0A068F658, B7Z6S9
    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/Swiss-Prot
    P04062
    UniProtKB/TrEMBL
    B7Z6S9
    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

    Status: REVIEWED

    Source sequence(s)
    AL713999
    Consensus CDS
    CCDS53374.1
    UniProtKB/Swiss-Prot
    P04062
    Related
    ENSP00000402577.2, ENST00000427500.7
    Conserved Domains (1) summary
    cl23815
    Location:40484
    Glyco_hydro_30; O-Glycosyl hydrolase family 30

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003315906.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    39475..49650 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.
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