Homo sapiens (human): 55526
Help
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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
OxoGdeHyase_C
Transket_pyr
E1_dh
Motif
Other DBs
NCBI-GeneID:
55526
NCBI-ProteinID:
NP_061176
OMIM:
614984
HGNC:
23537
Ensembl:
ENSG00000181192
UniProt:
Q96HY7
Structure
PDB
LinkDB
All DBs
Position
10:12068954..12123221
Genome browser
AA seq
919 aa
AA seq
DB search
MASATAAAARRGLGRALPLFWRGYQTERGVYGYRPRKPESREPQGALERPPVDHGLARLV
TVYCEHGHKAAKINPLFTGQALLENVPEIQALVQTLQGPFHTAGLLNMGKEEASLEEVLV
YLNQIYCGQISIETSQLQSQDEKDWFAKRFEELQKETFTTEERKHLSKLMLESQEFDHFL
ATKFSTVKRYGGEGAESMMGFFHELLKMSAYSGITDVIIGMPHRGRLNLLTGLLQFPPEL
MFRKMRGLSEFPENFSATGDVLSHLTSSVDLYFGAHHPLHVTMLPNPSHLEAVNPVAVGK
TRGRQQSRQDGDYSPDNSAQPGDRVICLQVHGDASFCGQGIVPETFTLSNLPHFRIGGSV
HLIVNNQLGYTTPAERGRSSLYCSDIGKLVGCAIIHVNGDSPEEVVRATRLAFEYQRQFR
KDVIIDLLCYRQWGHNELDEPFYTNPIMYKIIRARKSIPDTYAEHLIAGGLMTQEEVSEI
KSSYYAKLNDHLNNMAHYRPPALNLQAHWQGLAQPEAQITTWSTGVPLDLLRFVGMKSVE
VPRELQMHSHLLKTHVQSRMEKMMDGIKLDWATAEALALGSLLAQGFNVRLSGQDVGRGT
FSQRHAIVVCQETDDTYIPLNHMDPNQKGFLEVSNSPLSEEAVLGFEYGMSIESPKLLPL
WEAQFGDFFNGAQIIFDTFISGGEAKWLLQSGIVILLPHGYDGAGPDHSSCRIERFLQMC
DSAEEGVDGDTVNMFVVHPTTPAQYFHLLRRQMVRNFRKPLIVASPKMLLRLPAAVSTLQ
EMAPGTTFNPVIGDSSVDPKKVKTLVFCSGKHFYSLVKQRESLGAKKHDFAIIRVEELCP
FPLDSLQQEMSKYKHVKDHIWSQEEPQNMGPWSFVSPRFEKQLACKLRLVGRPPLPVPAV
GIGTVHLHQHEDILAKTFA
NT seq
2760 nt
NT seq
+upstream
nt +downstream
nt
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
DBGET
integrated database retrieval system