Gene
glud1a
- ID
- ZDB-GENE-030114-2
- Name
- glutamate dehydrogenase 1a
- Symbol
- glud1a Nomenclature History
- Previous Names
-
- glud1
- cb622 (1)
- wu:fc33g09
- wu:fc66a10
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to have glutamate dehydrogenase (NAD+) activity. Predicted to be involved in glutamate catabolic process. Predicted to localize to mitochondrion. Human ortholog(s) of this gene implicated in familial hyperinsulinemic hypoglycemia 6; hyperinsulinism; and hypoglycemia. Is expressed in several structures, including cardiovascular system; digestive system; nervous system; periderm; and pronephros. Orthologous to human GLUD1 (glutamate dehydrogenase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 26 figures from 9 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb622 (24 images)
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 |
|---|---|---|---|
| familial hyperinsulinemic hypoglycemia 6 | Alliance | Hyperinsulinism-hyperammonemia syndrome | 606762 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR033524 | Leu/Phe/Val dehydrogenases active site |
| Domain | IPR006096 | Glutamate/phenylalanine/leucine/valine/L-tryptophan dehydrogenase, C-terminal |
| Domain | IPR006097 | Glutamate/phenylalanine/leucine/valine/L-tryptophan dehydrogenase, dimerisation domain |
| Domain | IPR033922 | NAD(P) binding domain of glutamate dehydrogenase |
| Family | IPR006095 | Glutamate/phenylalanine/leucine/valine/L-tryptophan dehydrogenase |
| Homologous_superfamily | IPR036291 | NAD(P)-binding domain superfamily |
| Homologous_superfamily | IPR046346 | Aminoacid dehydrogenase-like, N-terminal domain superfamily |
Domain Details Per Protein
| Protein | Length | Aminoacid dehydrogenase-like, N-terminal domain superfamily | Glutamate/phenylalanine/leucine/valine/L-tryptophan dehydrogenase | Glutamate/phenylalanine/leucine/valine/L-tryptophan dehydrogenase, C-terminal | Glutamate/phenylalanine/leucine/valine/L-tryptophan dehydrogenase, dimerisation domain | Leu/Phe/Val dehydrogenases active site | NAD(P) binding domain of glutamate dehydrogenase | NAD(P)-binding domain superfamily |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q6NZ29
|
544 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
glud1a-201
(1)
|
Havana | 2482 nt |
Interactions and Pathways
No data available
Plasmids
No data available