KEGG   Homo sapiens (human): 55526
Entry
55526             CDS       T01001                                 
Symbol
DHTKD1, AAKAD, AMOXAD, CMT2Q, E1a, OADC-E1, OADH-E1
Name
(RefSeq) dehydrogenase E1 and transketolase domain containing 1
  KO
K15791  2-oxoadipate dehydrogenase E1 component [EC:1.2.4.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00310  Lysine degradation
hsa00380  Tryptophan metabolism
hsa00785  Lipoic acid metabolism
hsa01100  Metabolic pathways
hsa01210  2-Oxocarboxylic acid metabolism
Module
hsa_M00032  Lysine degradation, lysine => saccharopine => acetoacetyl-CoA
Network
nt06032  Lipoic acid metabolism
nt06036  Lysine degradation
  Element
N01686  Lysine degradation 2
Disease
H00264  Charcot-Marie-Tooth disease
H02644  Alpha-aminoadipic and alpha-ketoadipic aciduria
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09105 Amino acid metabolism
   00310 Lysine degradation
    55526 (DHTKD1)
   00380 Tryptophan metabolism
    55526 (DHTKD1)
  09108 Metabolism of cofactors and vitamins
   00785 Lipoic acid metabolism
    55526 (DHTKD1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    55526 (DHTKD1)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Regulator of mitochondrial biogenesis
   Other regulator of mitochondrial biogenesis
    55526 (DHTKD1)
SSDB
Motif
Pfam: OxoGdeHyase_C Transket_pyr E1_dh
Other DBs
NCBI-GeneID: 55526
NCBI-ProteinID: NP_061176
OMIM: 614984
HGNC: 23537
Ensembl: ENSG00000181192
UniProt: Q96HY7
Structure
Position
10:12068954..12123221
AA seq 919 aa
MASATAAAARRGLGRALPLFWRGYQTERGVYGYRPRKPESREPQGALERPPVDHGLARLV
TVYCEHGHKAAKINPLFTGQALLENVPEIQALVQTLQGPFHTAGLLNMGKEEASLEEVLV
YLNQIYCGQISIETSQLQSQDEKDWFAKRFEELQKETFTTEERKHLSKLMLESQEFDHFL
ATKFSTVKRYGGEGAESMMGFFHELLKMSAYSGITDVIIGMPHRGRLNLLTGLLQFPPEL
MFRKMRGLSEFPENFSATGDVLSHLTSSVDLYFGAHHPLHVTMLPNPSHLEAVNPVAVGK
TRGRQQSRQDGDYSPDNSAQPGDRVICLQVHGDASFCGQGIVPETFTLSNLPHFRIGGSV
HLIVNNQLGYTTPAERGRSSLYCSDIGKLVGCAIIHVNGDSPEEVVRATRLAFEYQRQFR
KDVIIDLLCYRQWGHNELDEPFYTNPIMYKIIRARKSIPDTYAEHLIAGGLMTQEEVSEI
KSSYYAKLNDHLNNMAHYRPPALNLQAHWQGLAQPEAQITTWSTGVPLDLLRFVGMKSVE
VPRELQMHSHLLKTHVQSRMEKMMDGIKLDWATAEALALGSLLAQGFNVRLSGQDVGRGT
FSQRHAIVVCQETDDTYIPLNHMDPNQKGFLEVSNSPLSEEAVLGFEYGMSIESPKLLPL
WEAQFGDFFNGAQIIFDTFISGGEAKWLLQSGIVILLPHGYDGAGPDHSSCRIERFLQMC
DSAEEGVDGDTVNMFVVHPTTPAQYFHLLRRQMVRNFRKPLIVASPKMLLRLPAAVSTLQ
EMAPGTTFNPVIGDSSVDPKKVKTLVFCSGKHFYSLVKQRESLGAKKHDFAIIRVEELCP
FPLDSLQQEMSKYKHVKDHIWSQEEPQNMGPWSFVSPRFEKQLACKLRLVGRPPLPVPAV
GIGTVHLHQHEDILAKTFA
NT seq 2760 nt   +upstreamnt  +downstreamnt
atggcctctgctactgcggcagcagcacgacggggcctcggccgggctctccctctcttc
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
aaccatatggacccaaatcagaaggggtttctagaggtcagcaacagcccactgtcagaa
gaggccgtcctgggatttgaatatgggatgagcattgagagcccaaagttactgcccctg
tgggaggcacagtttggcgatttcttcaatggtgcccagatcatctttgacacattcatc
tctggaggagaggccaagtggctcctacaaagcggcatcgtcatcctccttccacatggc
tacgatggggctgggccagaccactcatcctgtcgaatagagcgtttcctgcagatgtgt
gacagtgcggaagagggggtggacggagacactgtgaacatgtttgtggttcacccaaca
actcctgcacagtatttccacttgcttaggagacagatggtccggaacttcagaaaacca
ctcattgttgcttcccctaagatgttactcaggctcccggcagccgtgtcaactcttcaa
gaaatggcaccaggaacaacatttaacccggtcattggtgattcatctgtggatccaaaa
aaggttaagaccctcgtgttctgctccggcaaacatttctactccctggtgaaacaaaga
gaatctctgggggccaagaagcatgactttgccatcatccgagtagaggaactctgcccc
ttcccgttggattctttacagcaagagatgagcaaatacaaacatgttaaagatcatatt
tggagtcaggaggaacctcagaacatgggtccgtggtcgtttgtttctccaaggtttgaa
aagcagctggcctgcaagctccgtctggtgggccggccccctttgccagtacccgctgta
ggaattggcacagttcacttgcaccagcatgaagatatcctcgccaagaccttcgcttga

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (6)   
   KEGG PATHWAY (5)   
   KEGG MODULE (1)   
Network (3)   
   KEGG NETWORK (3)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Chemical substance (11)   
   KEGG COMPOUND (11)   
Chemical reaction (4)   
   KEGG REACTION (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (22)   
   KEGG ORTHOLOGY (1)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (12)   
   OC (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (39)   
   RefSeq(nuc) (1)   
   GenBank (19)   
   EMBL (19)   
3D Structure (8)   
   PDB (8)   
Protein domain (3)   
   Pfam (3)   
All databases (107)   

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