| ZFIN ID: ZDB-GENE-100922-270 |
| Gene Name: | glucosidase, beta, acid | |||||||||||||
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| Gene Symbol: | gba Nomenclature History |
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Attributions
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| Previous Names: | gba1 (1), lysosomal glucocerebrosidase (1), si:dkey-19n13.4 | |||||||||||||
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| 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) | |||||||||||||
| 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 |
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| sh391 | Small Deletion | Exon 7 | Frameshift, Premature Stop | TALEN |
PHENOTYPE
| 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 |
| 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) |
| Type | Name | Length (nt) | Analysis | |
|---|---|---|---|---|
| mRNA |
gba-201
(1)
|
4132 |
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|
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| ncRNA |
gba-002
(1)
|
543 |
Select Tool
|
| Browsers: NCBI, Ensembl, ZFIN |
INTERACTIONS AND PATHWAYS
ANTIBODIES
No data available
PLASMIDS
No data available
CONSTRUCTS WITH SEQUENCES FROM gba
No data available
SEQUENCE INFORMATION
| Type | Accession # | Length (nt/aa) | Analysis |
|---|---|---|---|
| RNA | RefSeq:XM_682379 (1) | 2746 nt |
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|
| Genomic | GenBank:BX322530 (1) | 159319 nt | |
| Polypeptide | UniProtKB:E7EZM1 (1) | 518 aa |
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|
ORTHOLOGY for gba (
Chr:
16
)
CITATIONS (24)