Free for academic non-profit institutions. Other users need a Commercial license
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]
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 Lysine degradation and Tryptophan metabolism. Gene Ontology (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 OGDHL.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004591 | oxoglutarate dehydrogenase (succinyl-transferring) activity | IEA | -- |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0016624 | oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor | IEA | -- |
GO:0030976 | thiamine pyrophosphate binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IDA | 23141294 |
GO:0005759 | mitochondrial matrix | TAS | -- |
GO:0005829 | cytosol | IBA | -- |
GO:0045252 | oxoglutarate dehydrogenase complex | IBA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism |
.40
|
|
2 | Lysine degradation | ||
3 | Tryptophan metabolism | ||
4 | Glyoxylate metabolism and glycine degradation | ||
5 | Viral mRNA Translation |
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 | IEA | -- |
GO:0055114 | oxidation-reduction process | IEA | -- |
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: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DHTKD1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DHTKD1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DHTKD1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DHTKD1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Dhtkd1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | DHTKD1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Dhtkd1 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | DHTKD1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DHTKD1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dhtkd1 30 |
|
||
Str.17401 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.4843 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | dhtkd1 30 31 |
|
OneToOne | |
Dr.13396 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG1544 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000551 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | ZK836.2 30 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | KGD1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.1194 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638336 | Uncertain Significance: 2-aminoadipic 2-oxoadipic aciduria | 12,097,898(+) | G/A | MISSENSE_VARIANT | |
644977 | Pathogenic: 2-aminoadipic 2-oxoadipic aciduria | 12,118,801(+) | CAA/C | FRAMESHIFT_VARIANT | |
652602 | Uncertain Significance: 2-aminoadipic 2-oxoadipic aciduria | 12,118,800(+) | A/G | SYNONYMOUS_VARIANT | |
689546 | Uncertain Significance: Distal amyotrophy | 12,113,033(+) | T/C | MISSENSE_VARIANT | |
709487 | Benign: 2-aminoadipic 2-oxoadipic aciduria | 12,087,621(+) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv120e199 | CNV | deletion | 23128226 |
dgv37n21 | CNV | gain | 19592680 |
dgv673n100 | CNV | gain | 25217958 |
dgv674n100 | CNV | gain | 25217958 |
dgv67n27 | CNV | gain | 19166990 |
dgv956n54 | CNV | gain | 21841781 |
esv2673758 | CNV | deletion | 23128226 |
esv2733084 | CNV | deletion | 23290073 |
esv2761574 | CNV | loss | 21179565 |
esv3622354 | CNV | gain | 21293372 |
esv3622355 | CNV | gain | 21293372 |
esv3622356 | CNV | loss | 21293372 |
esv3622357 | CNV | gain | 21293372 |
esv3622358 | CNV | loss | 21293372 |
esv3622359 | CNV | loss | 21293372 |
esv3622360 | CNV | gain | 21293372 |
esv3622361 | CNV | loss | 21293372 |
esv3891755 | CNV | loss | 25118596 |
nsv1035709 | CNV | gain | 25217958 |
nsv1035894 | CNV | gain | 25217958 |
nsv1046396 | CNV | gain | 25217958 |
nsv470919 | CNV | gain | 18288195 |
nsv818745 | CNV | gain | 17921354 |
nsv831785 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
2-aminoadipic 2-oxoadipic aciduria |
|
|
charcot-marie-tooth disease, axonal, type 2q |
|
|
tooth disease |
|
|
charcot-marie-tooth disease |
|
|
hyperlysinemia, type i |
|
|