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FLASH GENE
Symbol DHTKD1 contributors: mct - updated : 15-06-2011
HGNC name dehydrogenase E1 and transketolase domain containing 1
HGNC id 23537
Corresponding disease
AAOA 2-aminoadipic and 2-oxoadipic aciduria
CMT2Q Charcot-Marie-Tooth disease, axonal, type 2Q
Location 10p14      Physical location : 12.110.933 - 12.165.223
Synonym symbol(s) MGC3090, KIAA1630, DKFZP762M115
EC.number 1.2.4.2
DNA
TYPE functioning gene
STRUCTURE 54.30 kb     17 Exon(s)
MAPPING cloned Y linked N status provisional
Physical map
LOC389938 10 similar to SI:dZ211O13.2 (novel protein) CUGBP2 10p13-p14 CUG triplet repeat, RNA binding protein 2 USP6NL 10p13 USP6 N-terminal like ECHDC3 10p14 enoyl Coenzyme A hydratase domain containing 3 C10orf47 10p14 chromosome 10 open reading frame 47 UPF2 10p14-p13 UPF2 regulator of nonsense transcripts homolog (yeast) DHTKD1 10p14 dehydrogenase E1 and transketolase domain containing 1 SEC61A2 10p14 dehydrogenase E1 and transketolase domain containing 1 NUDT5 10p14-p13 nudix (nucleoside diphosphate linked moiety X)-type motif 5 C10orf7 10p13 chromosome 10 open reading frame 7 CAMK1D 10p13 calcium/calmodulin-dependent protein kinase ID DKFZP761F241 10p14 hypothetical protein DKFZp761F241 LOC389939 10 similar to ribosomal protein L5 OPTN 10p14 optineurin MCM10 10p13 MCM10 minichromosome maintenance deficient 10 (S. cerevisiae) LOC221044 10p14 hypothetical protein BC018068 PHYH 10p15-p14 phytanoyl-CoA hydroxylase (Refsum disease) SEPHS1 10p14 selenophosphate synthetase 1 C10orf30 10p14 chromosome 10 open reading frame 30 PRPF18 10p12.33 PRP18 pre-mRNA processing factor 18 homolog (yeast) FLJ10210
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
17 - 5202 - 919 - 2008 18004749
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivemouthtongue  predominantly
Reproductivefemale systemuteruscervix moderately
 female systembreastmammary gland highly
Urinarykidney   moderately
cell lineage
cell lines
fluid/secretion blood
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies ortholog to murine Dhtkd1
Homologene
FAMILY
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,mitochondria
basic FUNCTION
  • oxidoreductase activity
  • acting on the aldehyde or oxo group of donors, disulfide as acceptor
  • mediating the last unresolved step in the L-lysine-degradation pathway
  • important role for DHTKD1 in mitochondrial energy production and neurological development
  • functions as a 2-oxoglutarate-dehydrogenase E1 component and plays an important role in energy production in mitochondria through the tricarboxylic-acid cycle
  • essential role for DHTKD1 in normal mitochondrial function and energy production
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
  • glycolysis
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AAOA , CMT2Q
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS