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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
41
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
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
View all (34 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease axonal type 2Q Likely pathogenic; Pathogenic rs201369986, rs1281526839, rs760386662, rs397514534, rs606231237, rs1335731178, rs762729182, rs1271803838 RCV001335922
RCV001824200
RCV001335923
RCV005229839
RCV000032766
View all (3 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 2A2 Pathogenic; Likely pathogenic rs397514534, rs606231237 RCV003447100
RCV003447101
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DHTKD1-related disorder Likely pathogenic; Pathogenic rs201369986, rs757583515, rs776390640, rs769639705 RCV004749660
RCV003401712
RCV003410082
RCV003391577
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Abnormality of neuronal migration Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Q Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 35052424 Associate
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Autosomal dominant Charcot-Marie-Tooth disease type 2Q Charcot-Marie-Tooth Disease Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease BEFREE 29661920, 30896807
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q Charcot-Marie-Tooth Disease ORPHANET_DG 23141294
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q Charcot-Marie-Tooth Disease CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q Charcot-Marie-Tooth Disease CTD_human_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q Charcot-Marie-Tooth Disease GENOMICS_ENGLAND_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 34484123 Associate
★☆☆☆☆
Found in Text Mining only
Eosinophilic esophagitis Eosinophilia BEFREE 29669943, 30847859
★☆☆☆☆
Found in Text Mining only