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 enable oxoglutarate dehydrogenase (succinyl-transferring) activity and thiamine pyrophosphate binding activity. Predicted to act upstream of or within glycolytic process and tricarboxylic acid cycle. Predicted to be located in mitochondrion. Is expressed in alar plate midbrain region; eye; immature eye; musculature system; and optic tectum. Human ortholog(s) of this gene implicated in 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth disease axonal type 2Q. 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