Format

Send to:

Choose Destination

Links from Protein

    • Showing Current items.

    GBA glucosylceramidase beta [ Homo sapiens (human) ]

    Gene ID: 2629, updated on 15-Jun-2016
    Official Symbol
    GBAprovided by HGNC
    Official Full Name
    glucosylceramidase betaprovided by HGNC
    Primary source
    HGNC: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]
    Orthologs
    Location:
    1q21
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 metaxin 1 Neighboring gene glucosylceramidase beta 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
    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

    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
    glucosylceramidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glucosylceramidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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
     
    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 
    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 macroautophagy IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of protein dephosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of proteolysis involved in cellular protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of macroautophagy TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of proteasomal ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    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 exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
    D-glucosyl-N-acylsphingosine glucohydrolase
    acid beta-glucosidase
    alglucerase
    beta-GC
    beta-glucocerebrosidase
    glucosidase, beta, acid
    glucosylceramidase-like protein
    imiglucerase
    lysosomal glucocerebrosidase
    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 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_000157.3NP_000148.2  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)
      AL713999, BC003356, DC297079
      Consensus CDS
      CCDS1102.1
      UniProtKB/Swiss-Prot
      P04062
      UniProtKB/TrEMBL
      A0A068F658
      Related
      ENSP00000357357, OTTHUMP00000033992, ENST00000368373, OTTHUMT00000087203
      Conserved Domains (1) summary
      pfam02055
      Location:40533
      Glyco_hydro_30; O-Glycosyl hydrolase family 30
    2. NM_001005741.2NP_001005741.1  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, OTTHUMP00000033993, ENST00000327247, OTTHUMT00000087204
      Conserved Domains (1) summary
      pfam02055
      Location:40533
      Glyco_hydro_30; O-Glycosyl hydrolase family 30
    3. NM_001005742.2NP_001005742.1  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 (1) summary
      pfam02055
      Location:40533
      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/Swiss-Prot
      P04062
      UniProtKB/TrEMBL
      B7Z6S9
      Related
      ENSP00000397986, OTTHUMP00000273843, ENST00000428024, OTTHUMT00000471534
      Conserved Domains (1) summary
      cl22871
      Location:1446
      Glyco_hydro_2_C; Glycosyl hydrolases family 2, TIM barrel domain
    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
      cl22871
      Location:40484
      Glyco_hydro_2_C; Glycosyl hydrolases family 2, TIM barrel domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

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

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NW_003315906.1 Reference GRCh38.p7 ALT_REF_LOCI_1

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      156599733..156610147 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.