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Aliases for DHTKD1 Gene

Aliases for DHTKD1 Gene

  • Dehydrogenase E1 And Transketolase Domain Containing 1 2 3
  • Dehydrogenase E1 And Transketolase Domain-Containing Protein 1 3 4
  • EC 4 64
  • KIAA1630 4 6
  • AMOXAD 3 6
  • CMT2Q 3 6
  • Probable 2-Oxoglutarate Dehydrogenase E1 Component DHKTD1, Mitochondrial 3

External Ids for DHTKD1 Gene

Summaries for DHTKD1 Gene

Entrez Gene Summary for DHTKD1 Gene

  • This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q. [provided by RefSeq, May 2013]

GeneCards Summary for DHTKD1 Gene

DHTKD1 (Dehydrogenase E1 And Transketolase Domain Containing 1) is a Protein Coding gene. Diseases associated with DHTKD1 include 2-aminoadipic 2-oxoadipic aciduria and autosomal dominant charcot-marie-tooth disease type 2q. Among its related pathways are Integrated Breast Cancer Pathway. GO annotations related to this gene include thiamine pyrophosphate binding and oxoglutarate dehydrogenase (succinyl-transferring) activity. An important paralog of this gene is OGDH.

UniProtKB/Swiss-Prot for DHTKD1 Gene

  • The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). It contains multiple copies of three enzymatic components: 2-oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3) (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DHTKD1 Gene

Genomics for DHTKD1 Gene

Genomic Location for DHTKD1 Gene

12,068,917 bp from pter
12,123,228 bp from pter
54,312 bases
Plus strand

Genomic View for DHTKD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DHTKD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DHTKD1 Gene

Proteins for DHTKD1 Gene

  • Protein details for DHTKD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • Q68CU5
    • Q9BUM8
    • Q9HCE2

    Protein attributes for DHTKD1 Gene

    919 amino acids
    Molecular mass:
    103077 Da
    Name=thiamine diphosphate; Xref=ChEBI:CHEBI:58937;
    Quaternary structure:
    No Data Available
    • Sequence=BAB13456.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB13456.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA. C-terminal exons are derived from the neighboring gene.; Evidence={ECO:0000305};

neXtProt entry for DHTKD1 Gene

Proteomics data for DHTKD1 Gene at MOPED

Post-translational modifications for DHTKD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DHTKD1 Gene

Domains for DHTKD1 Gene

Protein Domains for DHTKD1 Gene


  • Belongs to the alpha-ketoglutarate dehydrogenase family.:
    • Q96HY7
genes like me logo Genes that share domains with DHTKD1: view

No data available for Gene Families for DHTKD1 Gene

Function for DHTKD1 Gene

Molecular function for DHTKD1 Gene

UniProtKB/Swiss-Prot CatalyticActivity: 2-oxoglutarate + [dihydrolipoyllysine-residue succinyltransferase] lipoyllysine = [dihydrolipoyllysine-residue succinyltransferase] S-succinyldihydrolipoyllysine + CO(2)
UniProtKB/Swiss-Prot Function: The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). It contains multiple copies of three enzymatic components: 2-oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3) (By similarity).

Enzyme Numbers (IUBMB) for DHTKD1 Gene

Gene Ontology (GO) - Molecular Function for DHTKD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004591 oxoglutarate dehydrogenase (succinyl-transferring) activity IBA --
GO:0016624 oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor --
GO:0030976 thiamine pyrophosphate binding IEA --
genes like me logo Genes that share ontologies with DHTKD1: view

miRNA for DHTKD1 Gene

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for DHTKD1 Gene

Localization for DHTKD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DHTKD1 Gene


Subcellular locations from

Jensen Localization Image for DHTKD1 Gene COMPARTMENTS Subcellular localization image for DHTKD1 gene
Compartment Confidence
mitochondrion 3
nucleus 2
cytosol 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for DHTKD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005829 NOT cytosol IBA --
GO:0045252 oxoglutarate dehydrogenase complex IBA --
genes like me logo Genes that share ontologies with DHTKD1: view

Pathways for DHTKD1 Gene

genes like me logo Genes that share pathways with DHTKD1: view

Pathways by source for DHTKD1 Gene

1 BioSystems pathway for DHTKD1 Gene

Interacting Proteins for DHTKD1 Gene

Gene Ontology (GO) - Biological Process for DHTKD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002244 hematopoietic progenitor cell differentiation IEA --
GO:0006091 generation of precursor metabolites and energy IMP 23141294
GO:0006096 glycolytic process IEA --
GO:0006099 tricarboxylic acid cycle IBA --
GO:0008152 metabolic process --
genes like me logo Genes that share ontologies with DHTKD1: view

Compounds for DHTKD1 Gene

(1) HMDB Compounds for DHTKD1 Gene

Compound Synonyms Cas Number PubMed IDs
Thiamine pyrophosphate
  • TPP
genes like me logo Genes that share compounds with DHTKD1: view

Transcripts for DHTKD1 Gene

mRNA/cDNA for DHTKD1 Gene

Unigene Clusters for DHTKD1 Gene

Dehydrogenase E1 and transketolase domain containing 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DHTKD1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13 ^ 14
SP4: - - - - -
SP5: -
SP7: - -

Relevant External Links for DHTKD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DHTKD1 Gene

mRNA expression in normal human tissues for DHTKD1 Gene

mRNA differential expression in normal tissues according to GTEx for DHTKD1 Gene

This gene is overexpressed in Liver (7.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DHTKD1 Gene

SOURCE GeneReport for Unigene cluster for DHTKD1 Gene Hs.104980

genes like me logo Genes that share expressions with DHTKD1: view

Orthologs for DHTKD1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DHTKD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DHTKD1 36
  • 99.13 (n)
  • 98.8 (a)
  • 99 (a)
(Bos Taurus)
Mammalia DHTKD1 36
  • 86.49 (n)
  • 89.98 (a)
  • 90 (a)
(Canis familiaris)
Mammalia DHTKD1 36
  • 87.37 (n)
  • 91.63 (a)
  • 91 (a)
(Mus musculus)
Mammalia Dhtkd1 36
  • 84.12 (n)
  • 88.23 (a)
Dhtkd1 16
Dhtkd1 37
  • 88 (a)
(Monodelphis domestica)
Mammalia DHTKD1 37
  • 85 (a)
(Ornithorhynchus anatinus)
Mammalia DHTKD1 37
  • 87 (a)
(Rattus norvegicus)
Mammalia Dhtkd1 36
  • 85.02 (n)
  • 88.77 (a)
(Gallus gallus)
Aves DHTKD1 36
  • 74.12 (n)
  • 80.98 (a)
  • 79 (a)
(Anolis carolinensis)
Reptilia DHTKD1 37
  • 78 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4843 36
tropical clawed frog
(Silurana tropicalis)
Amphibia dhtkd1 36
  • 69.49 (n)
  • 75.64 (a)
Str.17401 36
(Danio rerio)
Actinopterygii dhtkd1 36
  • 67 (n)
  • 71.84 (a)
dhtkd1 37
  • 70 (a)
Dr.13396 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000551 36
  • 53.95 (n)
  • 49.94 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1544 36
  • 54.33 (n)
  • 49.83 (a)
CG1544 37
  • 47 (a)
(Caenorhabditis elegans)
Secernentea ZK836.2 36
  • 53.94 (n)
  • 51.41 (a)
ZK836.2 37
  • 50 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KGD1 37
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1194 37
  • 53 (a)
Species with no ortholog for DHTKD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DHTKD1 Gene

Gene Tree for DHTKD1 (if available)
Gene Tree for DHTKD1 (if available)

Paralogs for DHTKD1 Gene

Paralogs for DHTKD1 Gene

Selected SIMAP similar genes for DHTKD1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with DHTKD1: view

Variants for DHTKD1 Gene

Sequence variations from dbSNP and Humsavar for DHTKD1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs1133226 -- 12,121,127(+) aggca(A/G)gagaa utr-variant-3-prime
rs1279137 -- 12,071,270(-) TAACC(A/T)GGTGG intron-variant
rs1279139 -- 12,068,225(-) tagcc(A/G)ggcgt upstream-variant-2KB
rs1291935 -- 12,071,654(-) cactg(C/T)gcctg intron-variant
rs1291936 -- 12,068,348(-) ggtgg(C/T)tcacg upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for DHTKD1 Gene

Variant ID Type Subtype PubMed ID
nsv831785 CNV Gain 17160897
dgv37n21 CNV Gain 19592680
dgv67n27 CNV Gain 19166990
nsv470919 CNV Gain 18288195
nsv818745 CNV Gain 17921354
dgv120e199 CNV Deletion 23128226
esv2673758 CNV Deletion 23128226
esv2733084 CNV Deletion 23290073

Relevant External Links for DHTKD1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

Disorders for DHTKD1 Gene

(2) OMIM Diseases for DHTKD1 Gene (614984)


  • Charcot-Marie-Tooth disease 2Q (CMT2Q) [MIM:615025]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269 PubMed:23141294}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 2-aminoadipic 2-oxoadipic aciduria (AMOXAD) [MIM:204750]: A metabolic disorder characterized by increased levels of 2-oxoadipate and 2-hydroxyadipate in the urine, and elevated 2-aminoadipate in the plasma. Patients can have mild to severe intellectual disability, muscular hypotonia, developmental delay, ataxia, and epilepsy. Most cases are asymptomatic. {ECO:0000269 PubMed:23141293}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for DHTKD1 Gene

Relevant External Links for DHTKD1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with DHTKD1: view

Publications for DHTKD1 Gene

  1. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10997877) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4
  2. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 49
  3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F. … Nebel A. (Mutat. Res. 2010) 3 49
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 49
  5. DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. (PMID: 23141293) Danhauser K. … Koelker S. (Am. J. Hum. Genet. 2012) 3 4

Products for DHTKD1 Gene

Sources for DHTKD1 Gene

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