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
Expression
All Expression Data
6 figures from Thisse et al., 2004
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With dhtkd1 Human Ortholog
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
Associated With dhtkd1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001017 Dehydrogenase, E1 component
Domain IPR005475 Transketolase-like, pyrimidine-binding domain
Domain IPR031717 Multifunctional 2-oxoglutarate metabolism enzyme, 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 Dehydrogenase, E1 component Multifunctional 2-oxoglutarate metabolism enzyme, C-terminal Multifunctional 2-oxoglutarate metabolism enzyme, C-terminal domain superfamily Thiamin diphosphate-binding fold Transketolase-like, pyrimidine-binding domain
UniProtKB:Q5PRA2 920
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations