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GBA glucosylceramidase beta [ Homo sapiens (human) ]

Gene ID: 2629, updated on 5-Mar-2019

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

Genomic context

See GBA in Genome Data Viewer
Location:
1q22
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (155234448..155244862, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (155204239..155214653, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371450 Neighboring gene thrombospondin 3 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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
glucosylceramidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glucosylceramidase activity IDA
Inferred from Direct Assay
more info
PubMed 
glucosylceramidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
glucosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
scavenger receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
steryl-beta-glucosidase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
autophagosome organization IEA
Inferred from Electronic Annotation
more info
 
autophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
beta-glucoside catabolic process IEA
Inferred from Electronic Annotation
more info
 
NOT cell death in response to oxidative stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to starvation IEA
Inferred from Electronic Annotation
more info
 
cellular response to tumor necrosis factor IMP
Inferred from Mutant Phenotype
more info
PubMed 
ceramide biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
cholesterol metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
 
glucosylceramide catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glucosylceramide catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
glucosylceramide catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
glycosphingolipid metabolic process TAS
Traceable Author Statement
more info
 
lipid glycosylation IDA
Inferred from Direct Assay
more info
PubMed 
lysosome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT mitochondrion organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of MAP kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of inflammatory response IC
Inferred by Curator
more info
PubMed 
negative regulation of interleukin-6 production IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of neuron death IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of protein homooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
NOT neuron projection development IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuronal action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of proteasomal ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein complex disassembly IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein dephosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein lipidation IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of protein metabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of proteolysis involved in cellular protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of TOR signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cellular protein metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of lysosomal protein catabolic process TAS
Traceable Author Statement
more info
PubMed 
regulation of macroautophagy TAS
Traceable Author Statement
more info
PubMed 
regulation of water loss via skin IEA
Inferred from Electronic Annotation
more info
 
response to dexamethasone IEA
Inferred from Electronic Annotation
more info
 
response to estrogen IEA
Inferred from Electronic Annotation
more info
 
response to pH IEA
Inferred from Electronic Annotation
more info
 
response to testosterone IEA
Inferred from Electronic Annotation
more info
 
response to thyroid hormone IEA
Inferred from Electronic Annotation
more info
 
skin morphogenesis IEA
Inferred from Electronic Annotation
more info
 
sphingosine biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
termination of signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular exosome HDA PubMed 
extrinsic component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
lysosomal lumen ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
lysosomal membrane HDA PubMed 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
lysosomal membrane TAS
Traceable Author Statement
more info
 
lysosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
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)

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
    4836..15250
    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

    Description
    Transcript Variant: This variant (1) encodes isoform 1. Variants 1, 2 and 3 encode the same isoform 1.
    Source sequence(s)
    BC003356, DC297079
    Consensus CDS
    CCDS1102.1
    UniProtKB/Swiss-Prot
    P04062
    UniProtKB/TrEMBL
    A0A068F658
    Related
    ENSP00000357357.3, ENST00000368373.7
    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_001005741.2NP_001005741.1  lysosomal acid glucosylceramidase isoform 1 precursor

    See identical proteins and their annotated locations for NP_001005741.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same isoform 1.
    Source sequence(s)
    AK291911, AK300876, 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_001005742.2NP_001005742.1  lysosomal acid glucosylceramidase isoform 1 precursor

    See identical proteins and their annotated locations for NP_001005742.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same isoform 1.
    Source sequence(s)
    AK300876, 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_001171811.1NP_001165282.1  lysosomal acid glucosylceramidase isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AK300829, AK300876, 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_001171812.1NP_001165283.1  lysosomal acid glucosylceramidase isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AK298900, 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 Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    155234448..155244862 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_1

Genomic

  1. NW_003315906.1 Reference GRCh38.p12 ALT_REF_LOCI_1

    Range
    39471..49885 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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