Gene

gba

ID
ZDB-GENE-100922-270
Name
glucosidase, beta, acid
Symbol
gba Nomenclature History
Previous Names
  • gba1 (1)
  • lysosomal glucocerebrosidase (1)
  • si:dkey-19n13.4
Type
protein_coding_gene
Location
Chr: 16 Mapping Details/Browsers
Description
Exhibits glucosylceramidase activity. Involved in neuron cellular homeostasis; regulation of ossification; and swimming. Predicted to localize to lysosomal membrane. 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
Note
None
Expression
All Expression Data
3 figures from 3 publications
Cross-Species Comparison
High Throughput Data
No data available
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
19 figures from 4 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human 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
Associated With gba Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR033452 Glycosyl hydrolase family 30, beta sandwich domain
Domain IPR033453 Glycosyl hydrolase family 30, TIM-barrel domain
Family IPR001139 Glycoside hydrolase family 30
Homologous_superfamily IPR013780 Glycosyl hydrolase, all-beta
Homologous_superfamily IPR017853 Glycoside hydrolase superfamily
Domain Details Per Protein
Protein Length Glycoside hydrolase family 30 Glycoside hydrolase superfamily Glycosyl hydrolase, all-beta Glycosyl hydrolase family 30, beta sandwich domain Glycosyl hydrolase family 30, TIM-barrel domain
UniProtKB:E7EZM1 518
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Gene Tree
Ensembl
Citations