Gene
dhtkd1
- ID
- ZDB-GENE-041212-44
- Name
- dehydrogenase E1 and transketolase domain containing 1
- Symbol
- dhtkd1 Nomenclature History
- Previous Names
-
- zgc:101818
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to have oxoglutarate dehydrogenase (succinyl-transferring) activity. Predicted to be involved in tricarboxylic acid cycle. Predicted to localize to cytosol and oxoglutarate dehydrogenase complex. Human ortholog(s) of this gene implicated in 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth disease axonal type 2Q. Is expressed in alar plate midbrain region; eye; immature eye; musculature system; and optic tectum. Orthologous to human DHTKD1 (dehydrogenase E1 and transketolase domain containing 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7153093 (9 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 |
|---|---|---|---|
| 2-aminoadipic 2-oxoadipic aciduria | Alliance | Alpha-aminoadipic and alpha-ketoadipic aciduria | 204750 |
| Charcot-Marie-Tooth disease axonal type 2Q | Alliance | ?Charcot-Marie-Tooth disease, axonal, type 2Q | 615025 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001017 | Dehydrogenase, E1 component |
| Domain | IPR005475 | Transketolase-like, pyrimidine-binding domain |
| Domain | IPR031717 | 2-oxoglutarate dehydrogenase E1 component/KDG, C-terminal |
| Family | IPR011603 | 2-oxoglutarate dehydrogenase E1 component |
| Homologous_superfamily | IPR029061 | Thiamin diphosphate-binding fold |
| Homologous_superfamily | IPR042179 | Multifunctional 2-oxoglutarate metabolism enzyme, C-terminal domain superfamily |
Domain Details Per Protein
| Protein | Length | 2-oxoglutarate dehydrogenase E1 component | 2-oxoglutarate dehydrogenase E1 component/KDG, C-terminal | Dehydrogenase, E1 component | Multifunctional 2-oxoglutarate metabolism enzyme, C-terminal domain superfamily | Thiamin diphosphate-binding fold | Transketolase-like, pyrimidine-binding domain |
|---|---|---|---|---|---|---|---|
|
UniProtKB:Q5PRA2
|
920 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
dhtkd1-201
(1)
|
Ensembl | 3,500 nt | ||
| ncRNA |
dhtkd1-002
(1)
|
Ensembl | 441 nt |
Interactions and Pathways
No data available
Plasmids
No data available