KEGG   Homo sapiens (human): 1738
Entry
1738              CDS       T01001                                 

Gene name
DLD, DLDD, DLDH, E3, GCSL, LAD, OGDC-E3, PHE3
Definition
(RefSeq) dihydrolipoamide dehydrogenase
  KO
K00382  dihydrolipoamide dehydrogenase [EC:1.8.1.4]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00010  Glycolysis / Gluconeogenesis
hsa00020  Citrate cycle (TCA cycle)
hsa00260  Glycine, serine and threonine metabolism
hsa00280  Valine, leucine and isoleucine degradation
hsa00310  Lysine degradation
hsa00380  Tryptophan metabolism
hsa00620  Pyruvate metabolism
hsa00630  Glyoxylate and dicarboxylate metabolism
hsa00640  Propanoate metabolism
hsa01100  Metabolic pathways
hsa01200  Carbon metabolism
hsa01240  Biosynthesis of cofactors
Module
hsa_M00009  Citrate cycle (TCA cycle, Krebs cycle)
hsa_M00011  Citrate cycle, second carbon oxidation, 2-oxoglutarate => oxaloacetate
hsa_M00032  Lysine degradation, lysine => saccharopine => acetoacetyl-CoA
hsa_M00036  Leucine degradation, leucine => acetoacetate + acetyl-CoA
hsa_M00307  Pyruvate oxidation, pyruvate => acetyl-CoA
Network
nt06024  Valine, leucine and isoleucine degradation
  Element
N00832  Branched-chain amino acids degradation
N00841  DLD deficiency in branched-chain amino acids degradation
Disease
H00072  Pyruvate dehydrogenase complex deficiency
H00172  Maple syrup urine disease
H02000  Dihydrolipoamide dehydrogenase deficiency
H02006  Alpha-ketoglutarate dehydrogenase complex deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00010 Glycolysis / Gluconeogenesis
    1738 (DLD)
   00020 Citrate cycle (TCA cycle)
    1738 (DLD)
   00620 Pyruvate metabolism
    1738 (DLD)
   00630 Glyoxylate and dicarboxylate metabolism
    1738 (DLD)
   00640 Propanoate metabolism
    1738 (DLD)
  09105 Amino acid metabolism
   00260 Glycine, serine and threonine metabolism
    1738 (DLD)
   00280 Valine, leucine and isoleucine degradation
    1738 (DLD)
   00310 Lysine degradation
    1738 (DLD)
   00380 Tryptophan metabolism
    1738 (DLD)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    1738 (DLD)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.8  Acting on a sulfur group of donors
   1.8.1  With NAD+ or NADP+ as acceptor
    1.8.1.4  dihydrolipoyl dehydrogenase
     1738 (DLD)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of breast cancer cells
   1738 (DLD)
SSDB
Motif
Pfam: Pyr_redox_2 Pyr_redox_dim Pyr_redox FAD_oxidored FAD_binding_2 Pyr_redox_3 NAD_binding_8 GIDA AlaDh_PNT_C HI0933_like FAD_binding_3 K_oxygenase Thi4 DAO
Other DBs
NCBI-GeneID: 1738
NCBI-ProteinID: NP_000099
OMIM: 238331
HGNC: 2898
Ensembl: ENSG00000091140
Vega: OTTHUMG00000154813
Pharos: P09622(Tbio)
UniProt: P09622 A0A024R713
LinkDB
Structure
PDB: 

Position
7q31.1
AA seq 509 aa
MQSWSRVYCSLAKRGHFNRISHGLQGLSAVPLRTYADQPIDADVTVIGSGPGGYVAAIKA
AQLGFKTVCIEKNETLGGTCLNVGCIPSKALLNNSHYYHMAHGKDFASRGIEMSEVRLNL
DKMMEQKSTAVKALTGGIAHLFKQNKVVHVNGYGKITGKNQVTATKADGGTQVIDTKNIL
IATGSEVTPFPGITIDEDTIVSSTGALSLKKVPEKMVVIGAGVIGVELGSVWQRLGADVT
AVEFLGHVGGVGIDMEISKNFQRILQKQGFKFKLNTKVTGATKKSDGKIDVSIEAASGGK
AEVITCDVLLVCIGRRPFTKNLGLEELGIELDPRGRIPVNTRFQTKIPNIYAIGDVVAGP
MLAHKAEDEGIICVEGMAGGAVHIDYNCVPSVIYTHPEVAWVGKSEEQLKEEGIEYKVGK
FPFAANSRAKTNADTDGMVKILGQKSTDRVLGAHILGPGAGEMVNEAALALEYGASCEDI
ARVCHAHPTLSEAFREANLAASFGKSINF
NT seq 1530 nt   +upstreamnt  +downstreamnt
atgcagagctggagtcgtgtgtactgctccttggccaagagaggccatttcaatcgaata
tctcatggcctacagggactttctgcagtgcctctgagaacttacgcagatcagccgatt
gatgctgatgtaacagttataggttctggtcctggaggatatgttgctgctattaaagct
gcccagttaggcttcaagacagtctgcattgagaaaaatgaaacacttggtggaacatgc
ttgaatgttggttgtattccttctaaggctttattgaacaactctcattattaccatatg
gcccatggaaaagattttgcatctagaggaattgaaatgtccgaagttcgcttgaattta
gacaagatgatggagcagaagagtactgcagtaaaagctttaacaggtggaattgcccac
ttattcaaacagaataaggttgttcatgtcaatggatatggaaagataactggcaaaaat
caagtcactgctacgaaagctgatggcggcactcaggttattgatacaaagaacattctt
atagccacgggttcagaagttactccttttcctggaatcacgatagatgaagatacaata
gtgtcatctacaggtgctttatctttaaaaaaagttccagaaaagatggttgttattggt
gcaggagtaataggtgtagaattgggttcagtttggcaaagacttggtgcagatgtgaca
gcagttgaatttttaggtcatgtaggtggagttggaattgatatggagatatctaaaaac
tttcaacgcatccttcaaaaacaggggtttaaatttaaattgaatacaaaggttactggt
gctaccaagaagtcagatggaaaaattgatgtttctattgaagctgcttctggtggtaaa
gctgaagttatcacttgtgatgtactcttggtttgcattggccgacgaccctttactaag
aatttgggactagaagagctgggaattgaactagatcccagaggtagaattccagtcaat
accagatttcaaactaaaattccaaatatctatgccattggtgatgtagttgctggtcca
atgctggctcacaaagcagaggatgaaggcattatctgtgttgaaggaatggctggtggt
gctgtgcacattgactacaattgtgtgccatcagtgatttacacacaccctgaagttgct
tgggttggcaaatcagaagagcagttgaaagaagagggtattgagtacaaagttgggaaa
ttcccatttgctgctaacagcagagctaagacaaatgctgacacagatggcatggtgaag
atccttgggcagaaatcgacagacagagtactgggagcacatattcttggaccaggtgct
ggagaaatggtaaatgaagctgctcttgctttggaatatggagcatcctgtgaagatata
gctagagtctgtcatgcacatccgaccttatcagaagcttttagagaagcaaatcttgct
gcgtcatttggcaaatcaatcaacttttga

KEGG   Homo sapiens (human): 1743
Entry
1743              CDS       T01001                                 

Gene name
DLST, DLTS, KGD2, PGL7
Definition
(RefSeq) dihydrolipoamide S-succinyltransferase
  KO
K00658  2-oxoglutarate dehydrogenase E2 component (dihydrolipoamide succinyltransferase) [EC:2.3.1.61]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00020  Citrate cycle (TCA cycle)
hsa00310  Lysine degradation
hsa00380  Tryptophan metabolism
hsa01100  Metabolic pathways
hsa01200  Carbon metabolism
Module
hsa_M00009  Citrate cycle (TCA cycle, Krebs cycle)
hsa_M00011  Citrate cycle, second carbon oxidation, 2-oxoglutarate => oxaloacetate
hsa_M00032  Lysine degradation, lysine => saccharopine => acetoacetyl-CoA
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00020 Citrate cycle (TCA cycle)
    1743 (DLST)
  09105 Amino acid metabolism
   00310 Lysine degradation
    1743 (DLST)
   00380 Tryptophan metabolism
    1743 (DLST)
Enzymes [BR:hsa01000]
 2. Transferases
  2.3  Acyltransferases
   2.3.1  Transferring groups other than aminoacyl groups
    2.3.1.61  dihydrolipoyllysine-residue succinyltransferase
     1743 (DLST)
SSDB
Motif
Pfam: 2-oxoacid_dh Biotin_lipoyl Biotin_lipoyl_2 DUF4106 GCV_H
Other DBs
NCBI-GeneID: 1743
NCBI-ProteinID: NP_001924
OMIM: 126063
HGNC: 2911
Ensembl: ENSG00000119689
Vega: OTTHUMG00000171483
Pharos: P36957(Tbio)
UniProt: P36957 A0A024R6C9
LinkDB
Position
14q24.3
AA seq 453 aa
MLSRSRCVSRAFSRSLSAFQKGNCPLGRRSLPGVSLCQGPGYPNSRKVVINNSVFSVRFF
RTTAVCKDDLVTVKTPAFAESVTEGDVRWEKAVGDTVAEDEVVCEIETDKTSVQVPSPAN
GVIEALLVPDGGKVEGGTPLFTLRKTGAAPAKAKPAEAPAAAAPKAEPTAAAVPPPAAPI
PTQMPPVPSPSQPPSGKPVSAVKPTVAPPLAEPGAGKGLRSEHREKMNRMRQRIAQRLKE
AQNTCAMLTTFNEIDMSNIQEMRARHKEAFLKKHNLKLGFMSAFVKASAFALQEQPVVNA
VIDDTTKEVVYRDYIDISVAVATPRGLVVPVIRNVEAMNFADIERTITELGEKARKNELA
IEDMDGGTFTISNGGVFGSLFGTPIINPPQSAILGMHGIFDRPVAIGGKVEVRPMMYVAL
TYDHRLIDGREAVTFLRKIKAAVEDPRVLLLDL
NT seq 1362 nt   +upstreamnt  +downstreamnt
atgctgtcccgatcccgctgtgtgtctcgggcgttcagccgctcgctctccgccttccag
aaggggaactgccctctagggagacgttccctgcctggggtctccttatgccagggacca
ggttaccctaacagcaggaaggttgtcattaacaacagtgtcttcagtgttcgctttttc
agaactacagctgtatgcaaggatgacttggttacagtcaaaaccccagcgtttgcagaa
tctgtcacagagggagatgtcaggtgggagaaagctgttggagacacagttgcagaagat
gaagtggtttgtgagattgaaactgacaagacatctgtgcaggttccatcaccagcaaat
ggcgtgattgaagctcttttggtacctgatgggggaaaagtcgaaggaggcactccactt
ttcacactcaggaaaactggtgctgctcctgctaaggccaagccggctgaagctcctgct
gctgcagccccaaaagcagaacctacagcagcggcagttcctccccctgcagcacccata
cccactcagatgccaccggtgccctcgccctcacagcctccttctggcaaacctgtgtct
gcagtaaaacccactgttgccccaccactagctgagccaggagctggcaaaggtctgcgt
tcagaacatcgggagaaaatgaacaggatgcggcagcgcattgctcagcgtctgaaggag
gcccagaatacatgtgcaatgctgacaacttttaatgagattgacatgagtaacatccag
gagatgagggctcggcacaaagaggcttttttgaagaaacataacctcaaactaggcttc
atgtcggcatttgtgaaggcctcagcctttgccttgcaggaacagcctgttgtaaatgca
gtgattgacgacacaaccaaagaggtggtgtatagggattatattgacatcagtgttgca
gtggccaccccacggggtctggtggttccagtcatcaggaatgtggaagctatgaatttt
gcagatattgaacggaccatcactgaactgggagagaaggcccgaaagaatgaacttgcc
attgaagatatggatggcggtaccttcaccattagcaatggaggcgtttttggctcgctc
tttggaacacccattatcaacccccctcagtctgccatcctggggatgcatggcatcttt
gacaggccagtggctataggaggcaaggtagaggtgcggcccatgatgtacgtggcactg
acctatgatcaccggctgattgatggcagagaggctgtgactttcctccgcaaaatcaag
gcagcggtagaggatcccagagtcctcctcctggatctttag

KEGG   Homo sapiens (human): 55526
Entry
55526             CDS       T01001                                 

Gene name
DHTKD1, AMOXAD, CMT2Q
Definition
(RefSeq) dehydrogenase E1 and transketolase domain containing 1
  KO
K15791  probable 2-oxoglutarate dehydrogenase E1 component DHKTD1 [EC:1.2.4.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00310  Lysine degradation
hsa00380  Tryptophan metabolism
hsa01100  Metabolic pathways
Module
hsa_M00032  Lysine degradation, lysine => saccharopine => acetoacetyl-CoA
Disease
H00264  Charcot-Marie-Tooth disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09105 Amino acid metabolism
   00310 Lysine degradation
    55526 (DHTKD1)
   00380 Tryptophan metabolism
    55526 (DHTKD1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    55526 (DHTKD1)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.2  Acting on the aldehyde or oxo group of donors
   1.2.4  With a disulfide as acceptor
    1.2.4.2  oxoglutarate dehydrogenase (succinyl-transferring)
     55526 (DHTKD1)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Regulator of mitochondrial biogenesis
   Other regulator of mitochondrial biogenesis
    55526 (DHTKD1)
SSDB
Motif
Pfam: Transket_pyr OxoGdeHyase_C E1_dh
Other DBs
NCBI-GeneID: 55526
NCBI-ProteinID: NP_061176
OMIM: 614984
HGNC: 23537
Ensembl: ENSG00000181192
Vega: OTTHUMG00000017677
Pharos: Q96HY7(Tbio)
UniProt: Q96HY7
LinkDB
Position
10p14
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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