You are using an unsupported browser. Please upgrade your browser to a newer version to get the best experience on Human Metabolome Database.
Identification
HMDB Protein ID HMDBP09099
Secondary Accession Numbers
  • 14843
Name Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial
Synonyms
  1. Dehydrogenase E1 and transketolase domain-containing protein 1
Gene Name DHTKD1
Protein Type Enzyme
Biological Properties
General Function Involved in oxoglutarate dehydrogenase (succinyl-transferring) activity
Specific 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).
Pathways
  • 2-aminoadipic 2-oxoadipic aciduria
  • Glutaric Aciduria Type I
  • Hyperlysinemia I, Familial
  • Hyperlysinemia II or Saccharopinuria
  • Lysine Degradation
  • Pyridoxine dependency with seizures
  • Saccharopinuria/Hyperlysinemia II
Reactions
Oxoglutaric acid + [dihydrolipoyllysine-residue succinyltransferase] lipoyllysine → [dihydrolipoyllysine-residue succinyltransferase] S-succinyldihydrolipoyllysine + CO(2) details
GO Classification
Biological Process
glycolysis
tricarboxylic acid cycle
Cellular Component
mitochondrion
Function
binding
catalytic activity
vitamin binding
oxidoreductase activity
thiamin pyrophosphate binding
oxoglutarate dehydrogenase (succinyl-transferring) activity
oxidoreductase activity, acting on the aldehyde or oxo group of donors
oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor
Molecular Function
oxoglutarate dehydrogenase (succinyl-transferring) activity
thiamine pyrophosphate binding
Process
metabolic process
small molecule metabolic process
alcohol metabolic process
monosaccharide metabolic process
hexose metabolic process
glucose metabolic process
glucose catabolic process
glycolysis
Cellular Location
  1. Mitochondrion (Potential)
Gene Properties
Chromosome Location 10
Locus 10p14
SNPs DHTKD1
Gene Sequence
>2760 bp
ATGGCCTCTGCTACTGCGGCAGCAGCACGACGGGGCCTCGGCCGGGCTCTCCCTCTCCTC
TGGCGTGGCTACCAGACCGAGCGGGGCGTTTACGGCTACCGGCCGAGGAAGCCCGAGAGC
CGCGAGCCCCAGGGCGCCCTGGAGCGCCCCCCAGTTGATCATGGCCTTGCCAGGTTGGTG
ACAGTATATTGTGAGCATGGTCATAAAGCTGCCAAAATCAACCCCCTCTTCACCGGACAA
GCCCTGCTGGAGAATGTGCCTGAAATCCAAGCCCTGGTGCAGACACTGCAGGGACCCTTC
CACACGGCAGGATTATTGAACATGGGGAAGGAAGAGGCCTCACTTGAGGAAGTGTTAGTC
TATCTCAATCAAATCTACTGTGGGCAGATTTCTATTGAAACCTCCCAACTTCAGAGCCAG
GATGAGAAAGACTGGTTTGCCAAGCGGTTTGAGGAACTGCAAAAGGAGACGTTTACCACA
GAAGAGCGAAAACATCTGTCGAAACTAATGCTGGAATCTCAGGAGTTTGACCACTTTCTG
GCCACCAAGTTCTCGACAGTGAAGCGATATGGAGGCGAAGGGGCTGAAAGCATGATGGGC
TTTTTCCACGAGCTGCTGAAAATGTCGGCCTACAGCGGGATCACTGATGTCATTATTGGG
ATGCCCCATAGAGGGAGGCTGAATTTATTGACAGGCCTTCTGCAGTTCCCTCCAGAGCTG
ATGTTCCGTAAAATGCGAGGCTTAAGTGAATTTCCAGAGAATTTCTCAGCCACTGGAGAC
GTCCTGTCTCACCTGACCTCCTCTGTGGACCTGTACTTTGGGGCGCACCATCCCCTCCAT
GTGACAATGTTGCCCAATCCCTCGCACCTGGAGGCCGTCAACCCCGTGGCCGTGGGCAAA
ACTCGCGGCAGGCAGCAGTCTCGCCAAGACGGCGATTACTCTCCAGACAACTCAGCCCAG
CCGGGGGACAGGGTCATTTGCTTACAGGTCCATGGTGATGCTTCTTTCTGTGGTCAAGGG
ATTGTTCCTGAAACATTCACGCTGTCCAATCTCCCACATTTCAGAATTGGTGGGAGTGTG
CATTTGATTGTTAATAACCAGCTGGGTTACACCACTCCAGCTGAAAGAGGAAGGTCTTCT
TTATACTGCAGTGATATTGGGAAGCTTGTGGGCTGTGCCATCATCCATGTCAATGGAGAC
AGCCCAGAGGAAGTGGTCCGTGCCACACGACTGGCTTTTGAATACCAACGCCAGTTCCGC
AAGGATGTGATTATTGATCTGTTGTGCTACAGGCAGTGGGGCCACAATGAGCTGGATGAG
CCATTCTACACCAACCCCATCATGTACAAAATCATCAGAGCTCGAAAGAGCATTCCAGAC
ACATATGCAGAGCACCTCATTGCTGGCGGACTCATGACGCAGGAGGAGGTGTCTGAAATA
AAATCCTCCTACTATGCCAAGTTGAATGATCACTTAAATAACATGGCCCACTACAGGCCC
CCTGCCCTGAACCTGCAGGCCCACTGGCAGGGCCTGGCTCAGCCAGAAGCGCAAATCACC
ACCTGGAGTACAGGTGTGCCCCTCGACCTCCTGCGGTTTGTTGGCATGAAGTCTGTAGAG
GTGCCAAGAGAGCTGCAGATGCACAGTCACCTGCTGAAGACACATGTTCAGTCCAGAATG
GAGAAGATGATGGACGGAATCAAGCTAGACTGGGCCACCGCGGAAGCTCTTGCCTTGGGT
TCTTTACTTGCTCAAGGTTTTAATGTTCGTCTAAGTGGCCAAGATGTTGGTCGTGGAACT
TTCAGTCAGAGGCATGCAATCGTGGTTTGCCAGGAGACGGATGACACCTACATCCCCCTG
AACCATATGGACCCAAATCAGAAGGGGTTTCTAGAGGTCAGCAACAGCCCCCTGTCAGAA
GAGGCCGTCCTGGGATTCGAATATGGGATGAGCATTGAGAGCCCAAAGTTACTGCCCCTG
TGGGAGGCACAGTTTGGCGATTTCTTCAATGGTGCCCAGATCATCTTTGACACATTCATC
TCTGGAGGAGAGGCCAAGTGGCTCCTACAAAGCGGCATCGTCATCCTCCTTCCACATGGC
TACGATGGGGCTGGGCCAGACCACTCATCCTGTCGAATAGAGCGTTTCCTGCAGATGTGT
GACAGTGCGGAAGAGGGGGTGGACGGAGACACTGTGAACATGTTTGTGGTTCACCCAACA
ACTCCTGCACAGTATTTCCACTTGCTTAGGAGACAGATGGTCCGGAACTTCAGAAAACCA
CTCATTGTTGCTTCCCCTAAGATGTTACTCAGGCTCCCGGCAGCCGTGTCAACTCTTCAA
GAAATGGCACCAGGAACAACATTTAACCCGGTCATTGGTGATTCATCTGTGGATCCAAAA
AAGGTTAAGACCCTCGTGTTCTGCTCCGGCAAACATTTCTACTCCCTGGTGAAACAAAGA
GAATCTCTGGGGGCCAAGAAGCATGACTTTGCCATCATCCGAGTAGAGGAACTCTGCCCC
TTCCCGTTGGATTCTTTACAGCAAGAGATGAGCAAATACAAACATGTTAAAGATCATATT
TGGAGTCAGGAGGAACCTCAGAACATGGGTCCGTGGTCGTTTGTTTCTCCAAGGTTTGAA
AAGCAGCTGGCCTGCAAGCTCCGTCTGGTGGGCCGGCCCCCTTTGCCAGTACCCGCTGTA
GGAATTGGCACAGTTCACTTGCACCAGCATGAAGATATCCTCGCCAAGACCTTCGCTTGA
Protein Properties
Number of Residues 919
Molecular Weight 103042.15
Theoretical pI 6.936
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial
MASATAAAARRGLGRALPLFWRGYQTERGVYGYRPRKPESREPQGALERPPVDHGLARLV
TVYCEHGHKAAKINPLFTGQALLENVPEIQALVQTLQGPFHTAGLLNMGKEEASLEEVLV
YLNQIYCGQISIETSQLQSQDEKDWFAKRFEELQKETFTTEERKHLSKLMLESQEFDHFL
ATKFSTVKRYGGEGAESMMGFFHELLKMSAYSGITDVIIGMPHRGRLNLLTGLLQFPPEL
MFRKMRGLSEFPENFSATGDVLSHLTSSVDLYFGAHHPLHVTMLPNPSHLEAVNPVAVGK
TRGRQQSRQDGDYSPDNSAQPGDRVICLQVHGDASFCGQGIVPETFTLSNLPHFRIGGSV
HLIVNNQLGYTTPAERGRSSLYCSDIGKLVGCAIIHVNGDSPEEVVRATRLAFEYQRQFR
KDVIIDLLCYRQWGHNELDEPFYTNPIMYKIIRARKSIPDTYAEHLIAGGLMTQEEVSEI
KSSYYAKLNDHLNNMAHYRPPALNLQAHWQGLAQPEAQITTWSTGVPLDLLRFVGMKSVE
VPRELQMHSHLLKTHVQSRMEKMMDGIKLDWATAEALALGSLLAQGFNVRLSGQDVGRGT
FSQRHAIVVCQETDDTYIPLNHMDPNQKGFLEVSNSPLSEEAVLGFEYGMSIESPKLLPL
WEAQFGDFFNGAQIIFDTFISGGEAKWLLQSGIVILLPHGYDGAGPDHSSCRIERFLQMC
DSAEEGVDGDTVNMFVVHPTTPAQYFHLLRRQMVRNFRKPLIVASPKMLLRLPAAVSTLQ
EMAPGTTFNPVIGDSSVDPKKVKTLVFCSGKHFYSLVKQRESLGAKKHDFAIIRVEELCP
FPLDSLQQEMSKYKHVKDHIWSQEEPQNMGPWSFVSPRFEKQLACKLRLVGRPPLPVPAV
GIGTVHLHQHEDILAKTFA
GenBank ID Protein 38788380
UniProtKB/Swiss-Prot ID Q96HY7
UniProtKB/Swiss-Prot Entry Name DHTK1_HUMAN
PDB IDs Not Available
GenBank Gene ID NM_018706.5
GeneCard ID DHTKD1
GenAtlas ID DHTKD1
HGNC ID HGNC:23537
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L, Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE, Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H, Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S, Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E, Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C, Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK, Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird G, Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE, McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson T, Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan S, Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou T, Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore N, Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J, Wall M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead SL, Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK, Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T, Doucette-Stamm L, Beck S, Smith DR, Rogers J: The DNA sequence and comparative analysis of human chromosome 10. Nature. 2004 May 27;429(6990):375-81. [PubMed:15164054 ]
  3. Bechtel S, Rosenfelder H, Duda A, Schmidt CP, Ernst U, Wellenreuther R, Mehrle A, Schuster C, Bahr A, Blocker H, Heubner D, Hoerlein A, Michel G, Wedler H, Kohrer K, Ottenwalder B, Poustka A, Wiemann S, Schupp I: The full-ORF clone resource of the German cDNA Consortium. BMC Genomics. 2007 Oct 31;8:399. [PubMed:17974005 ]
  4. Nagase T, Kikuno R, Nakayama M, Hirosawa M, Ohara O: Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 2000 Aug 31;7(4):273-81. [PubMed:10997877 ]