ZFIN ID: ZDB-GENE-100922-270
Gene Name: glucosidase, beta, acid
Gene Symbol: gba    Nomenclature History

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Previous Names: gba1 (1), lysosomal glucocerebrosidase (1), si:dkey-19n13.4

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 16 Mapping Details/Browsers
Description: Exhibits glucosylceramidase activity. Involved in neuron cellular homeostasis; regulation of ossification; and swimming. Is expressed in brain; fin; and liver. Used to study Gaucher's disease. Human ortholog(s) of this gene implicated in Gaucher's disease (multiple); Lewy body dementia; and Parkinson's disease (multiple). Orthologous to human GBA (glucosylceramidase beta).
Genome Resources: Alliance (1),  Gene:559072 (1),  Ensembl(GRCz11):ENSDARG00000076058 (2)
GENE EXPRESSION
All Expression Data: 3 figures from 3 publications
Wild-type Stages, Structures: Pharyngula:Prim-5 (24.0h-30.0h) to Adult (90d-730d, breeding adult)
 
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa1621 Point Mutation Donor Splice Site of Exon 4 Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sh391 Small Deletion Exon 7 Frameshift, Premature Stop TALEN
    Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-gba N/A 1
    MO2-gba N/A 1
    MO3-gba N/A 1
    TALEN1-gba 1
    DISEASE ASSOCIATED WITH gba HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    Gaucher's disease perinatal lethal Alliance Gaucher disease, perinatal lethal 608013
    Gaucher's disease type I Alliance Gaucher disease, type I 230800
    Gaucher's disease type II Alliance Gaucher disease, type II 230900
    Gaucher's disease type III Alliance Gaucher disease, type III 231000
    late onset Parkinson's disease Alliance {Parkinson disease, late-onset, susceptibility to} 168600
    Lewy body dementia Alliance {Lewy body dementia, susceptibility to} 127750
    Gaucher disease, type IIIC 231005
    DISEASE ASSOCIATED WITH gba VIA EXPERIMENTAL MODELS
    Human Disease Fish Conditions Citations
    Gaucher's disease gbash391/sh391(TL) standard conditions Keatinge et al., 2015
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process neuron cellular homeostasis (more)
    Molecular Function glucosylceramidase activity (more)
    GO Terms (all 10)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA gba-201 (1)    Ensembl 4132
    ncRNA gba-002 (1)    Ensembl 543
    Browsers: NCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM gba No data available
    MARKER RELATIONSHIPS
    gba Contained in: [BAC] DKEY-19N13 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:XM_682379 (1) 2746 nt
    Genomic GenBank:BX322530 (1) 159319 nt
    Select Tool
    Polypeptide UniProtKB:E7EZM1 (1) 518 aa
    Sequence Information (all 5)
    ORTHOLOGY for gba ( Chr: 16 )
    CITATIONS (24)