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GBA glucosidase, beta, acid [ Homo sapiens (human) ]

Gene ID: 2629, updated on 26-Aug-2014
Official Symbol
GBAprovided by HGNC
Official Full Name
glucosidase, beta, acidprovided by HGNC
Primary source
HGNC:4177
See related
Ensembl:ENSG00000177628; HPRD:06973; MIM:606463; Vega:OTTHUMG00000035841
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]
Location:
1q21
Exon count:
13
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 thrombospondin 3 Neighboring gene metaxin 1 Neighboring gene glucosidase, beta, acid pseudogene 1 Neighboring gene metaxin 1 pseudogene 1 Neighboring gene family with sequence similarity 189, member B Neighboring gene secretory carrier membrane protein 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
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

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 Protein Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
glucosylceramidase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
 
receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Process Evidence Code Pubs
carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
 
cell death 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 
glucosylceramide catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
glycosphingolipid metabolic process TAS
Traceable Author Statement
more info
 
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 
positive regulation of protein dephosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of water loss via skin IEA
Inferred from Electronic Annotation
more info
 
response to estrogen IEA
Inferred from Electronic Annotation
more info
 
response to glucocorticoid 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
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
sphingolipid metabolic process TAS
Traceable Author Statement
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
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
 
lysosomal lumen ISS
Inferred from Sequence or Structural Similarity
more info
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
 
Preferred Names
glucosylceramidase
Names
glucosylceramidase
beta-GC
alglucerase
imiglucerase
acid beta-glucosidase
beta-glucocerebrosidase
lysosomal glucocerebrosidase
glucosylceramidase-like protein
D-glucosyl-N-acylsphingosine glucohydrolase
NP_000148.2
NP_001005741.1
NP_001005742.1
NP_001165282.1
NP_001165283.1

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 

    Range
    4836..15250
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000157.3NP_000148.2  glucosylceramidase isoform 1 precursor

    See proteins identical to 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)
    AL713999, BC003356, DC297079
    Consensus CDS
    CCDS1102.1
    UniProtKB/Swiss-Prot
    P04062
    Related
    ENSP00000357357, OTTHUMP00000033992, ENST00000368373, OTTHUMT00000087203
    Conserved Domains (1) summary
    pfam02055
    Location:40533
    Blast Score: 2324
    Glyco_hydro_30; O-Glycosyl hydrolase family 30
  2. NM_001005741.2NP_001005741.1  glucosylceramidase isoform 1 precursor

    See proteins identical to 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/TrEMBL
    B7Z6S9
    UniProtKB/Swiss-Prot
    P04062
    Related
    ENSP00000314508, OTTHUMP00000033993, ENST00000327247, OTTHUMT00000087204
    Conserved Domains (1) summary
    pfam02055
    Location:40533
    Blast Score: 2324
    Glyco_hydro_30; O-Glycosyl hydrolase family 30
  3. NM_001005742.2NP_001005742.1  glucosylceramidase isoform 1 precursor

    See proteins identical to 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/TrEMBL
    B7Z6S9
    UniProtKB/Swiss-Prot
    P04062
    Conserved Domains (1) summary
    pfam02055
    Location:40533
    Blast Score: 2324
    Glyco_hydro_30; O-Glycosyl hydrolase family 30
  4. NM_001171811.1NP_001165282.1  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/TrEMBL
    B7Z6S9
    UniProtKB/Swiss-Prot
    P04062
    Conserved Domains (1) summary
    pfam02055
    Location:1446
    Blast Score: 2099
    Glyco_hydro_30; O-Glycosyl hydrolase family 30
  5. NM_001171812.1NP_001165283.1  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, OTTHUMP00000273842, ENST00000427500, OTTHUMT00000471533
    Conserved Domains (1) summary
    pfam02055
    Location:40484
    Blast Score: 2044
    Glyco_hydro_30; O-Glycosyl hydrolase family 30

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 ALT_REF_LOCI_1

Genomic

  1. NW_003315906.1 

    Range
    39471..49885
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006726211.1XP_006726274.1  

    Conserved Domains (1) summary
    pfam02055
    Location:40533
    Blast Score: 2326
    Glyco_hydro_30; O-Glycosyl hydrolase family 30

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

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

mRNA and Protein(s)

  1. XM_006711270.1XP_006711333.1  

    See proteins identical to XP_006711333.1

    UniProtKB/Swiss-Prot
    P04062
    Conserved Domains (1) summary
    pfam02055
    Location:40533
    Blast Score: 2324
    Glyco_hydro_30; O-Glycosyl hydrolase family 30

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    126567152..126576952
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    156599733..156610147
    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.