Gene
glud1b
- ID
- ZDB-GENE-030828-1
- Name
- glutamate dehydrogenase 1b
- Symbol
- glud1b Nomenclature History
- Previous Names
-
- cb719 (1)
- wu:fb16e02
- wu:fb58f12
- wu:fe37f03
- wu:fj43f02
- zgc:192851
- Type
- protein_coding_gene
- Location
- Chr: 12 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; hypoglycemia; and late onset Parkinson's disease. Is expressed in several structures, including blastomere; digestive system; fin; mesoderm; and tail bud. Orthologous to several human genes including GLUD1 (glutamate dehydrogenase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 23 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb719 (6 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 dehydrogenase, C-terminal |
| Domain | IPR006097 | Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain |
| Domain | IPR033922 | NAD(P) binding domain of glutamate dehydrogenase |
| Family | IPR006095 | Glutamate/phenylalanine/leucine/valine dehydrogenase |
| Homologous_superfamily | IPR036291 | NAD(P)-binding domain superfamily |
Domain Details Per Protein
| Protein | Length | Glutamate/phenylalanine/leucine/valine dehydrogenase | Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal | Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain | Leu/Phe/Val dehydrogenases active site | NAD(P) binding domain of glutamate dehydrogenase | NAD(P)-binding domain superfamily |
|---|---|---|---|---|---|---|---|
|
UniProtKB:Q803T3
|
542 | ||||||
|
UniProtKB:Q6P3L9
|
542 |
| Type | Name | Length (nt) | Analysis |
|---|---|---|---|
| mRNA |
glud1b-201
(1)
|
2659 nt |
Interactions and Pathways
No data available
Plasmids
No data available