Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55526
Gene name Gene Name - the full gene name approved by the HGNC.
Dehydrogenase E1 and transketolase domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DHTKD1
Synonyms (NCBI Gene) Gene synonyms aliases
AAKAD, AMOXAD, CMT2Q, E1a, OADC-E1, OADH-E1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
AAKAD, CMT2Q
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10p14
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614984 23537 ENSG00000181192
Protein
UniProt ID 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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth disease axonal type 2Q GenCC
Associations from Text Mining
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