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 enable glutamate dehydrogenase (NAD+) activity. Predicted to be involved in glutamate catabolic process. Predicted to act upstream of or within amino acid metabolic process. Predicted to be active in mitochondrion. Is expressed in several structures, including cardiovascular system; digestive system; nervous system; periderm; and pronephros. Human ortholog(s) of this gene implicated in familial hyperinsulinemic hypoglycemia 6; hyperinsulinism; hypoglycemia; and late onset Parkinson's disease. Orthologous to several human genes including 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 | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
glud1a-201
(1)
|
Ensembl | 2,482 nt |
Interactions and Pathways
No data available
Plasmids
No data available