Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DHTKD1 Gene

Aliases for DHTKD1 Gene

  • Dehydrogenase E1 And Transketolase Domain Containing 1 2 3 5
  • Dehydrogenase E1 And Transketolase Domain-Containing Protein 1 3 4
  • EC 1.2.4.2 4 63
  • KIAA1630 4
  • AMOXAD 3
  • CMT2Q 3

External Ids for DHTKD1 Gene

Previous GeneCards Identifiers for DHTKD1 Gene

  • GC10P012114
  • GC10P012150
  • GC10P012028
  • GC10P012110

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 charcot-marie-tooth disease, axonal, type 2q. Among its related pathways are Metabolism and Viral mRNA Translation. GO annotations related to this gene include oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor 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

Regulatory Elements for DHTKD1 Gene

Promoters for DHTKD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DHTKD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DHTKD1 Gene

Chromosome:
10
Start:
12,068,917 bp from pter
End:
12,123,228 bp from pter
Size:
54,312 bases
Orientation:
Plus strand

Genomic View for DHTKD1 Gene

Genes around DHTKD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DHTKD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Q96HY7-DHTK1_HUMAN
    Recommended name:
    Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial
    Protein Accession:
    Q96HY7
    Secondary Accessions:
    • Q68CU5
    • Q9BUM8
    • Q9HCE2

    Protein attributes for DHTKD1 Gene

    Size:
    919 amino acids
    Molecular mass:
    103077 Da
    Cofactor:
    Name=thiamine diphosphate; Xref=ChEBI:CHEBI:58937;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

Antibody Products

Domains & Families for DHTKD1 Gene

Protein Domains for DHTKD1 Gene

Suggested Antigen Peptide Sequences for DHTKD1 Gene

Graphical View of Domain Structure for InterPro Entry

Q96HY7

UniProtKB/Swiss-Prot:

DHTK1_HUMAN :
  • Belongs to the alpha-ketoglutarate dehydrogenase family.
Family:
  • Belongs to the alpha-ketoglutarate dehydrogenase family.
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

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

Human Phenotype Ontology for DHTKD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for DHTKD1

miRNA for DHTKD1 Gene

miRTarBase miRNAs that target DHTKD1

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for DHTKD1 Gene

Localization for DHTKD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DHTKD1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DHTKD1 Gene COMPARTMENTS Subcellular localization image for DHTKD1 gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for DHTKD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 NOT cytosol IBA --
genes like me logo Genes that share ontologies with DHTKD1: view

Pathways & Interactions for DHTKD1 Gene

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

Pathways by source 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:0006096 glycolytic process IEA --
GO:0008152 metabolic process IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with DHTKD1: view

No data available for SIGNOR curated interactions for DHTKD1 Gene

Drugs & Compounds for DHTKD1 Gene

(1) Drugs for DHTKD1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
thiamin diphosphate Experimental Pharma 0

(1) Additional Compounds for DHTKD1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Oxoglutaric acid
  • 2-Ketoglutarate
  • 2-Ketoglutaric acid
  • 2-Oxo-1,5-pentanedioate
  • 2-Oxo-1,5-pentanedioic acid
  • 2-Oxoglutarate
328-50-7
genes like me logo Genes that share compounds with DHTKD1: view

Transcripts for DHTKD1 Gene

Unigene Clusters for DHTKD1 Gene

Dehydrogenase E1 and transketolase domain containing 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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
SP1:
SP2:
SP3:
SP4: - - - - -
SP5: -
SP6:
SP7: - -
SP8:

Relevant External Links for DHTKD1 Gene

GeneLoc Exon Structure for
DHTKD1
ECgene alternative splicing isoforms for
DHTKD1

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 (x7.0).

Protein differential expression in normal tissues from HIPED for DHTKD1 Gene

This gene is overexpressed in Liver (16.9), Salivary gland (9.6), Lymph node (8.4), and Liver, secretome (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with DHTKD1: view

Protein tissue co-expression partners for DHTKD1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for DHTKD1 Gene

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
cow
(Bos Taurus)
Mammalia DHTKD1 35
  • 86.49 (n)
  • 89.98 (a)
DHTKD1 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DHTKD1 35
  • 87.37 (n)
  • 91.63 (a)
DHTKD1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dhtkd1 35
  • 84.12 (n)
  • 88.23 (a)
Dhtkd1 16
Dhtkd1 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DHTKD1 35
  • 99.13 (n)
  • 98.8 (a)
DHTKD1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dhtkd1 35
  • 85.02 (n)
  • 88.77 (a)
oppossum
(Monodelphis domestica)
Mammalia DHTKD1 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DHTKD1 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves DHTKD1 35
  • 74.12 (n)
  • 80.98 (a)
DHTKD1 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DHTKD1 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dhtkd1 35
  • 69.49 (n)
  • 75.64 (a)
Str.17401 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.4843 35
zebrafish
(Danio rerio)
Actinopterygii dhtkd1 35
  • 67 (n)
  • 71.84 (a)
Dr.13396 35
dhtkd1 36
  • 70 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000551 35
  • 53.95 (n)
  • 49.94 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1544 35
  • 54.33 (n)
  • 49.83 (a)
CG1544 36
  • 47 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ZK836.2 35
  • 53.94 (n)
  • 51.41 (a)
ZK836.2 36
  • 50 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KGD1 36
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1194 36
  • 53 (a)
OneToOne
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

ENSEMBL:
Gene Tree for DHTKD1 (if available)
TreeFam:
Gene Tree for DHTKD1 (if available)

Paralogs for DHTKD1 Gene

Paralogs for DHTKD1 Gene

(2) 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
rs1279138 - 12,069,091(+) CTCTC(A/C/T)TCTGG reference, missense
rs3740015 - 12,089,082(+) ACCTG(G/T)ACTTT reference, missense
rs17849603 - 12,089,191(+) GTCTC(A/G/T)CCAAG reference, missense
rs34716552 - 12,091,573(-) GAGAT(C/T)GGACA reference, missense
rs2062988 - 12,101,106(+) GCAAT(C/G)GTGGT reference, missense

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

Variation tolerance for DHTKD1 Gene

Residual Variation Intolerance Score: 17.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.93; 93.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DHTKD1 Gene

HapMap Linkage Disequilibrium report
DHTKD1
Human Gene Mutation Database (HGMD)
DHTKD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DHTKD1 Gene

Disorders for DHTKD1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for DHTKD1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
2-aminoadipic 2-oxoadipic aciduria
  • amino adipic aciduria
charcot-marie-tooth disease, axonal, type 2q
  • charcot-marie-tooth neuropathy, type 2q
charcot-marie-tooth disease type 2q
  • charcot-marie-tooth disease, axonal, type 2q
charcot-marie-tooth disease
  • dejerine-sottas disease
charcot-marie-tooth disease, type 2e
  • charcot-marie-tooth disease, axonal, type 2s
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DHTK1_HUMAN
  • 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.
  • 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.

Relevant External Links for DHTKD1

Genetic Association Database (GAD)
DHTKD1
Human Genome Epidemiology (HuGE) Navigator
DHTKD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DHTKD1
genes like me logo Genes that share disorders with DHTKD1: view

No data available for Genatlas for DHTKD1 Gene

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 67
  2. Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria. (PMID: 25860818) Hagen J. … Houten S.M. (J. Inherit. Metab. Dis. 2015) 3
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for DHTKD1 Gene

Sources for DHTKD1 Gene

Back to Top

Content