ZFIN ID: ZDB-GENE-041212-44
Gene Name: dehydrogenase E1 and transketolase domain containing 1
Gene Symbol: dhtkd1    Nomenclature History

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Previous Name: zgc:101818

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(Including Attributions)
Gene 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. 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: Alliance (1),  Gene:494076 (1),  Ensembl(GRCz11):ENSDARG00000016415 (2)
GENE EXPRESSION
Directly Submitted Expression Data: 6 figures (9 images) from Thisse et al., 2004 [IMAGE:7153093]
Wild-type Stages, Structures: Segmentation:20-25 somites (19.0h-22.0h) to Hatching:Long-pec (48.0h-60.0h)
 
High Throughput Expression: GEO (1) , Expression Atlas (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa39471 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa44234 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • PHENOTYPE No data available
    DISEASE ASSOCIATED WITH dhtkd1 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    2-aminoadipic 2-oxoadipic aciduria Alliance 2-aminoadipic 2-oxoadipic aciduria 204750
    Charcot-Marie-Tooth disease axonal type 2Q Alliance ?Charcot-Marie-Tooth disease, axonal, type 2Q 615025
    DISEASE ASSOCIATED WITH dhtkd1 VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process glycolytic process (more)
    Cellular Component mitochondrion (more)
    Molecular Function oxidoreductase activity (more)
    GO Terms (all 8)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA dhtkd1-201 (1)    Ensembl 3500
    ncRNA dhtkd1-002 (1)    Ensembl 441
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM dhtkd1 No data available
    MARKER RELATIONSHIPS
    dhtkd1 Contained in: [BAC] CH73-334L12 (1)
    [Fosmid] CH1073-35J20 (1), CH1073-450D21 (1)
    dhtkd1 Encodes: [EST] IMAGE:7153093 (1)
    [cDNA] MGC:101818 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_001008619 (1) 3504 nt
    Genomic GenBank:CU394253 (1) 98637 nt
    Select Tool
    Polypeptide UniProtKB:F1R838 (1) 925 aa
    Sequence Information (all 15)
    ORTHOLOGY for dhtkd1 ( Chr: 25 )
    CITATIONS (26)