Gene Gene information from NCBI Gene database.
Entrez ID 55526
Gene name Dehydrogenase E1 and transketolase domain containing 1
Gene symbol DHTKD1
Synonyms (NCBI Gene)
AAKADAMOXADCMT2QE1aOADC-E1OADH-E1
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
SNPs SNP information provided by dbSNP.
18
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
miRNA miRNA information provided by mirtarbase database.
925
miRTarBase ID miRNA Experiments Reference
MIRT052332 hsa-let-7b-5p CLASH 23622248
MIRT051121 hsa-miR-16-5p CLASH 23622248
MIRT049034 hsa-miR-92a-3p CLASH 23622248
MIRT036136 hsa-miR-1296-5p CLASH 23622248
MIRT678703 hsa-miR-5585-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
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 28514442, 32296183, 33961781
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA 23141294
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614984 23537 ENSG00000181192
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96HY7
Protein name 2-oxoadipate dehydrogenase complex component E1 (E1a) (OADC-E1) (OADH-E1) (EC 1.2.4.-) (2-oxoadipate dehydrogenase, mitochondrial) (Alpha-ketoadipate dehydrogenase) (Alpha-KADH-E1) (Dehydrogenase E1 and transketolase domain-containing protein 1) (Probable
Protein function 2-oxoadipate dehydrogenase (E1a) component of the 2-oxoadipate dehydrogenase complex (OADHC) (PubMed:29191460, PubMed:29752936, PubMed:32303640, PubMed:32633484, PubMed:32695416). Participates in the first step, rate limiting for the overall con
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
KSSYYAKLNDHLNNMAHYRPPAL
NLQAHWQGLAQPEAQITTWSTGVPLDLLRFVGMKSVE
VPRELQMHSHLLKTHVQSRMEKMMDGIKLDWATAEALALGSLLAQGFNVRLSGQDVGRGT
FSQRHAIVVCQETDDTYIPLNHMDPNQKGFLEVSNSPLSEEAVLGFEYGMSIESPKLLPL
WEAQFGDFFNGAQIIFDTFISGGEAKWLLQSGIVILLPHGYDGAGPDHSSCRIERFLQMC
DSAEEGVDGDTVNMFVVHPTTPAQYFHLLRRQMVRNFRKPLIVASPKMLLRLP
AAVSTLQ
EMAPGTTFNPVIGDSSVDPKKVKTLVFCSGKHFYSLVKQRESLGAKKHDFAIIRVEELCP
FPLDSLQQEMSKYKHVKDHIWSQEEPQNMGPWSFVSPRFEKQLACKLRLVGRPPLPVPAV
GIGTVHLHQHEDILAKTF
A
Sequence length 919
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Lysine degradation
Tryptophan metabolism
Lipoic acid metabolism
Metabolic pathways
2-Oxocarboxylic acid metabolism
  Glyoxylate metabolism and glycine degradation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
843
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
2-aminoadipic 2-oxoadipic aciduria Likely pathogenic; Pathogenic rs201369986, rs780313786, rs1281526839, rs2131629002, rs1383399355, rs758290860, rs2131616447, rs776390640, rs2491465612, rs2491491951, rs764591027, rs1364396346, rs2491496929, rs2491491847, rs778263250
View all (24 more)
RCV001865840
RCV003642803
RCV001869830
RCV001950822
RCV001916888
RCV001992612
RCV002225190
RCV003088166
RCV002636324
RCV002675595
RCV002785704
RCV002811080
RCV002811878
RCV002898561
RCV002903791
RCV002928316
RCV003009020
RCV003055553
RCV003148419
RCV003236265
RCV003778262
RCV003528912
RCV003529109
RCV003529239
RCV003529295
RCV003529268
RCV003529711
RCV003644143
RCV003642438
RCV003827759
RCV003840063
RCV003841979
RCV000714728
RCV000535744
RCV000032765
RCV000691193
RCV000693577
RCV002507381
RCV000988328
Charcot-Marie-Tooth disease axonal type 2Q Likely pathogenic; Pathogenic rs201369986, rs1281526839, rs760386662, rs397514534, rs606231237, rs1335731178, rs762729182, rs1271803838 RCV001335922
RCV001824200
RCV001335923
RCV005229839
RCV000032766
RCV005860117
RCV000754752
RCV002507381
Charcot-Marie-Tooth disease type 2A2 Pathogenic; Likely pathogenic rs397514534, rs606231237 RCV003447100
RCV003447101
DHTKD1-related disorder Likely pathogenic; Pathogenic rs201369986, rs757583515, rs776390640, rs769639705 RCV004749660
RCV003401712
RCV003410082
RCV003391577
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of neuronal migration Benign rs767066938 RCV000201346
Acute myeloid leukemia Likely benign rs34644609 RCV005908098
Cervical cancer Likely benign rs34644609 RCV005908100
Clear cell carcinoma of kidney Likely benign rs34644609 RCV005908101
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 35052424
Aortic Aneurysm Familial Abdominal 1 Associate 34484123
Charcot Marie Tooth Disease Associate 34169998
Congenital Hereditary and Neonatal Diseases and Abnormalities Associate 32303640
Diabetes Mellitus Type 2 Associate 34484123
Eosinophilic Esophagitis Associate 29669943, 35897808
Hereditary Sensory and Motor Neuropathy Associate 23141294, 35052424
Insulin Resistance Associate 29986096
Melanoma Associate 36050469
Metabolic Diseases Associate 32303640