• Gene id: 55526

Gene Summary

• Gene Symbol: DHTKD1   Gene   UCSC   Ensembl
• Aliases: AMOXAD, CMT2Q
• Gene name: dehydrogenase E1 and transketolase domain containing 1
• Alternate names: probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial, dehydrogenase E1 and transketolase domain-containing protein 1,
• Gene location: 10p14 (12068953: 12123220)     Exons: 17     NC_000010.11
• Gene summary(Entrez): 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
• OMIM: 613991

Protein Summary

• Protein general information: Q96HY7  
  • Name: Probable 2 oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial (EC 1.2.4.2) (Dehydrogenase E1 and transketolase domain containing protein 1)
  • Length: 919  
  • Mass: 103077
• Sequence:

  MASATAAAARRGLGRALPLFWRGYQTERGVYGYRPRKPESREPQGALERPPVDHGLARLVTVYCEHGHKAAKINP
  LFTGQALLENVPEIQALVQTLQGPFHTAGLLNMGKEEASLEEVLVYLNQIYCGQISIETSQLQSQDEKDWFAKRF
  EELQKETFTTEERKHLSKLMLESQEFDHFLATKFSTVKRYGGEGAESMMGFFHELLKMSAYSGITDVIIGMPHRG
  RLNLLTGLLQFPPELMFRKMRGLSEFPENFSATGDVLSHLTSSVDLYFGAHHPLHVTMLPNPSHLEAVNPVAVGK
  TRGRQQSRQDGDYSPDNSAQPGDRVICLQVHGDASFCGQGIVPETFTLSNLPHFRIGGSVHLIVNNQLGYTTPAE
  RGRSSLYCSDIGKLVGCAIIHVNGDSPEEVVRATRLAFEYQRQFRKDVIIDLLCYRQWGHNELDEPFYTNPIMYK
  IIRARKSIPDTYAEHLIAGGLMTQEEVSEIKSSYYAKLNDHLNNMAHYRPPALNLQAHWQGLAQPEAQITTWSTG
  VPLDLLRFVGMKSVEVPRELQMHSHLLKTHVQSRMEKMMDGIKLDWATAEALALGSLLAQGFNVRLSGQDVGRGT
  FSQRHAIVVCQETDDTYIPLNHMDPNQKGFLEVSNSPLSEEAVLGFEYGMSIESPKLLPLWEAQFGDFFNGAQII
  FDTFISGGEAKWLLQSGIVILLPHGYDGAGPDHSSCRIERFLQMCDSAEEGVDGDTVNMFVVHPTTPAQYFHLLR
  RQMVRNFRKPLIVASPKMLLRLPAAVSTLQEMAPGTTFNPVIGDSSVDPKKVKTLVFCSGKHFYSLVKQRESLGA
  KKHDFAIIRVEELCPFPLDSLQQEMSKYKHVKDHIWSQEEPQNMGPWSFVSPRFEKQLACKLRLVGRPPLPVPAV
  GIGTVHLHQHEDILAKTFA

• Structural information:
  • Interpro: IPR011603  IPR001017  IPR031717  IPR042179  IPR029061   IPR005475  
  • STRING: ENSP00000263035
• Other Databases: GeneCards:  DHTKD1  Malacards:  DHTKD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004591	oxoglutarate dehydrogenase (succinyl-transferring) activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0006099	tricarboxylic acid cycle	IBA	biological process
GO:0045252	oxoglutarate dehydrogenase complex	IBA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0006091	generation of precursor metabolites and energy	IMP	biological process
GO:0004591	oxoglutarate dehydrogenase (succinyl-transferring) activity	IEA	molecular function
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0016624	oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor	IEA	molecular function
GO:0030976	thiamine pyrophosphate binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0006096	glycolytic process	IEA	biological process
GO:0004591	oxoglutarate dehydrogenase (succinyl-transferring) activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0002244	hematopoietic progenitor cell differentiation	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00310	Lysine degradation
hsa00380	Tryptophan metabolism

Diseases

Associated diseases	References
Charcot-Marie-Tooth disease	KEGG:H00264
Charcot-Marie-Tooth disease	KEGG:H00264
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray