DHTKD1 (dehydrogenase E1 and transketolase domain containing 1)

Gene

• Entrez ID: 55526
• Gene name: Dehydrogenase E1 and transketolase domain containing 1
• Gene symbol: DHTKD1
• Synonyms: AAKAD, AMOXAD, CMT2Q
• Chromosome: 10
• Chromosome location: 10p14
• Summary: 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34644609	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs117225135	G>A	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs138884194	G>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs147571909	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200788729	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs201680688	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs397514534	C>T	Pathogenic	Coding sequence variant, stop gained
rs606231237	T>C,G	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs745432268	C>T	Pathogenic	Coding sequence variant, stop gained
rs760386662	G>A	Likely-pathogenic	Splice acceptor variant
rs762729182	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs770649540	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1271803838	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1335731178	T>C,G	Likely-pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1554791360	->A	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1564385081	A>G	Pathogenic	Initiator codon variant, missense variant
rs1564391327	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1588616299	->T	Likely-pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT036136	hsa-miR-1296-5p	CLASH	23622248
MIRT049034	hsa-miR-92a-3p	CLASH	23622248
MIRT051121	hsa-miR-16-5p	CLASH	23622248
MIRT052332	hsa-let-7b-5p	CLASH	23622248
MIRT615991	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT615992	hsa-miR-1228-5p	HITS-CLIP	23824327
MIRT615993	hsa-miR-6881-5p	HITS-CLIP	23824327
MIRT615994	hsa-miR-6787-5p	HITS-CLIP	23824327
MIRT615995	hsa-miR-663a	HITS-CLIP	23824327
MIRT615996	hsa-miR-1908-5p	HITS-CLIP	23824327
MIRT630482	hsa-miR-7150	HITS-CLIP	23824327
MIRT630483	hsa-miR-4736	HITS-CLIP	23824327
MIRT630484	hsa-miR-4763-3p	HITS-CLIP	23824327
MIRT630485	hsa-miR-1207-5p	HITS-CLIP	23824327
MIRT630486	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT630487	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT630488	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT630489	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT630490	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT630491	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT659015	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT659016	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT659017	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT659018	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT659019	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT659020	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT659021	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT659022	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT659023	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT659024	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT659025	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT659026	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT659027	hsa-miR-138-2-3p	HITS-CLIP	23824327
MIRT659028	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT659029	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT659030	hsa-miR-3183	HITS-CLIP	23824327
MIRT659031	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT659032	hsa-miR-640	HITS-CLIP	23824327
MIRT659032	hsa-miR-640	PAR-CLIP	26701625
MIRT659033	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT659034	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT659035	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT659036	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT659037	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT659038	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT659039	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT659040	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT659041	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT659041	hsa-miR-6849-3p	PAR-CLIP	26701625
MIRT659042	hsa-miR-764	HITS-CLIP	23824327
MIRT659042	hsa-miR-764	PAR-CLIP	26701625
MIRT659043	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT659043	hsa-miR-125a-3p	PAR-CLIP	26701625
MIRT659044	hsa-miR-1226-3p	HITS-CLIP	23824327
MIRT678703	hsa-miR-5585-3p	HITS-CLIP	23824327
MIRT678704	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT678705	hsa-miR-4279	HITS-CLIP	23824327
MIRT678706	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT678707	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT678708	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT678709	hsa-miR-1976	HITS-CLIP	23824327
MIRT678710	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT678711	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT678712	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT678713	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT678714	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT678715	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT678716	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT743095	hsa-miR-3934-5p	PAR-CLIP	26701625
MIRT750998	hsa-miR-5586-5p	PAR-CLIP	26701625
MIRT753217	hsa-miR-6512-3p	PAR-CLIP	26701625
MIRT753749	hsa-miR-6720-5p	PAR-CLIP	26701625
MIRT754484	hsa-miR-6746-3p	PAR-CLIP	26701625

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IEA
GO:0004591	Function	Oxoglutarate dehydrogenase (succinyl-transferring) activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005739	Component	Mitochondrion	IDA	23141294
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006091	Process	Generation of precursor metabolites and energy	IMP	23141294
GO:0006096	Process	Glycolytic process	IEA
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0030976	Function	Thiamine pyrophosphate binding	IEA

Other IDs

• MIM: 614984
• HGNC: 23537
• e!Ensembl: ENSG00000181192

Protein

• UniProt ID: Q96HY7
• Protein name: Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial (EC 1.2.4.2) (Dehydrogenase E1 and transketolase domain-containing protein 1)
• Protein 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).
• PDB: 5RVW, 5RVX, 5RVY, 5RVZ, 5RW0, 5RW1, 6SY1, 6U3J
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00676	E1_dh	193 → 503	Dehydrogenase E1 component	Family
  PF02779	Transket_pyr	567 → 773	Transketolase, pyrimidine binding domain	Domain
  PF16870	OxoGdeHyase_C	776 → 918	2-oxoglutarate dehydrogenase C-terminal	Family

• Sequence:

  MASATAAAARRGLGRALPLFWRGYQTERGVYGYRPRKPESREPQGALERPPVDHGLARLV
  TVYCEHGHKAAKINPLFTGQALLENVPEIQALVQTLQGPFHTAGLLNMGKEEASLEEVLV
  YLNQIYCGQISIETSQLQSQDEKDWFAKRFEELQKETFTTEERKHLSKLMLESQEFDHFL
  ATKFSTVKRYGGEGAESMMGFFHELLKMSAYSGITDVIIGMPHRGRLNLLTGLLQFPPEL
  MFRKMRGLSEFPENFSATGDVLSHLTSSVDLYFGAHHPLHVTMLPNPSHLEAVNPVAVGK
  TRGRQQSRQDGDYSPDNSAQPGDRVICLQVHGDASFCGQGIVPETFTLSNLPHFRIGGSV
  HLIVNNQLGYTTPAERGRSSLYCSDIGKLVGCAIIHVNGDSPEEVVRATRLAFEYQRQFR
  KDVIIDLLCYRQWGHNELDEPFYTNPIMYKIIRARKSIPDTYAEHLIAGGLMTQEEVSEI
  KSSYYAKLNDHLNNMAHYRPPALNLQAHWQGLAQPEAQITTWSTGVPLDLLRFVGMKSVE
  VPRELQMHSHLLKTHVQSRMEKMMDGIKLDWATAEALALGSLLAQGFNVRLSGQDVGRGT
  FSQRHAIVVCQETDDTYIPLNHMDPNQKGFLEVSNSPLSEEAVLGFEYGMSIESPKLLPL
  WEAQFGDFFNGAQIIFDTFISGGEAKWLLQSGIVILLPHGYDGAGPDHSSCRIERFLQMC
  DSAEEGVDGDTVNMFVVHPTTPAQYFHLLRRQMVRNFRKPLIVASPKMLLRLPAAVSTLQ
  EMAPGTTFNPVIGDSSVDPKKVKTLVFCSGKHFYSLVKQRESLGAKKHDFAIIRVEELCP
  FPLDSLQQEMSKYKHVKDHIWSQEEPQNMGPWSFVSPRFEKQLACKLRLVGRPPLPVPAV
  GIGTVHLHQHEDILAKTFA

• Sequence length: 919