Gene
glsb
- ID
- ZDB-GENE-030616-550
- Name
- glutaminase b
- Symbol
- glsb Nomenclature History
- Previous Names
-
- gls
- si:dz87i4.2
- wu:fa97e05 (1)
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to have glutaminase activity. Predicted to be involved in glutamate biosynthetic process and glutamine catabolic process. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy. Is expressed in brain; intestinal bulb; pectoral fin; and swim bladder. Orthologous to human GLS (glutaminase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental and epileptic encephalopathy 71 | Alliance | Developmental and epileptic encephalopathy 71 | 618328 |
| Global developmental delay, progressive ataxia, and elevated glutamine | 618412 | ||
| ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development | 618339 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Ankyrin repeat | Ankyrin repeat-containing domain superfamily | Beta-lactamase/transpeptidase-like | Glutaminase | Glutaminase, EF-hand domain |
|---|---|---|---|---|---|---|
|
UniProtKB:F1RDU2
|
566 | |||||
|
UniProtKB:A0A8N7TDH1
|
635 | |||||
|
UniProtKB:A0A8M2BFD6
|
633 | |||||
|
UniProtKB:A0A8M2BFD7
|
565 |
Interactions and Pathways
No data available
Plasmids
No data available