Homo sapiens (human): 593
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Entry
593 CDS
T01001
Symbol
BCKDHA, BCKDE1A, MSU, MSUD1, MSUD1A, OVD1A
Name
(RefSeq) branched chain keto acid dehydrogenase E1 subunit alpha
KO
K00166
2-oxoisovalerate dehydrogenase E1 component subunit alpha [EC:
1.2.4.4
]
Organism
hsa
Homo sapiens (human)
Pathway
hsa00280
Valine, leucine and isoleucine degradation
hsa00640
Propanoate metabolism
hsa00785
Lipoic acid metabolism
hsa01100
Metabolic pathways
hsa01210
2-Oxocarboxylic acid metabolism
Module
hsa_M00036
Leucine degradation, leucine => acetoacetate + acetyl-CoA
Network
nt06024
Valine, leucine and isoleucine degradation
nt06032
Lipoic acid metabolism
Element
N01619
Branched-chain amino acids degradation 2
Disease
H00172
Maple syrup urine disease
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09101 Carbohydrate metabolism
00640 Propanoate metabolism
593 (BCKDHA)
09105 Amino acid metabolism
00280 Valine, leucine and isoleucine degradation
593 (BCKDHA)
09108 Metabolism of cofactors and vitamins
00785 Lipoic acid metabolism
593 (BCKDHA)
Enzymes [BR:
hsa01000
]
1. Oxidoreductases
1.2 Acting on the aldehyde or oxo group of donors
1.2.4 With a disulfide as acceptor
1.2.4.4 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring)
593 (BCKDHA)
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Motif
Pfam:
E1_dh
TPP_enzyme_C
DXP_synthase_N
Motif
Other DBs
NCBI-GeneID:
593
NCBI-ProteinID:
NP_000700
OMIM:
608348
HGNC:
986
Ensembl:
ENSG00000248098
Pharos:
P12694
(Tbio)
UniProt:
P12694
Structure
PDB
PDBj
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All DBs
Position
19:41397818..41425002
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AA seq
445 aa
AA seq
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MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQFSSLDDKPQFPGASAE
FIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILY
ESQRQGRISFYMTNYGEEGTHVGSAAALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYG
NISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYAAKRANANRVVICYFGEGA
ASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIAARGPGYGIMSIRVDG
NDVFAVYNATKEARRRAVAENQPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHP
ISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNLLFSDVYQEMPAQL
RKQQESLARHLQTYGEHYPLDHFDK
NT seq
1338 nt
NT seq
+upstream
nt +downstream
nt
atggcggtagcgatcgctgcagcgagggtctggcggctaaaccgtggtttgagccaggct
gccctcctgctgctgcggcagcctggggctcggggactggctagatctcacccccccagg
cagcagcagcagttttcatctctggatgacaagccccagttcccaggggcctcggcggag
tttatagataagttggaattcatccagcccaacgtcatctctggaatccccatctaccgc
gtcatggaccggcaaggccagatcatcaaccccagcgaggacccccacctgccgaaggag
aaggtgctgaagctctacaagagcatgacactgcttaacaccatggaccgcatcctctat
gagtctcagcggcagggccggatctccttctacatgaccaactatggtgaggagggcacg
cacgtggggagtgccgccgccctggacaacacggacctggtgtttggccagtaccgggag
gcaggtgtgctgatgtatcgggactaccccctggaactattcatggcccagtgctatggc
aacatcagtgacttgggcaaggggcgccagatgcctgtccactacggctgcaaggaacgc
cacttcgtcactatctcctctccactggccacgcagatccctcaggcggtgggggcggcg
tacgcagccaagcgggccaatgccaacagggtcgtcatctgttacttcggcgagggggca
gccagtgagggggacgcccatgccggcttcaacttcgctgccacacttgagtgccccatc
atcttcttctgccggaacaatggctacgccatctccacgcccacctctgagcagtatcgc
ggcgatggcattgcagcacgaggccccgggtatggcatcatgtcaatccgcgtggatggt
aatgatgtgtttgccgtatacaacgccacaaaggaggcccgacggcgggctgtggcagag
aaccagcccttcctcatcgaggccatgacctacaggatcgggcaccacagcaccagtgac
gacagttcagcgtaccgctcggtggatgaggtcaattactgggataaacaggaccacccc
atctcccggctgcggcactatctgctgagccaaggctggtgggatgaggagcaggagaag
gcctggaggaagcagtcccgcaggaaggtgatggaggcctttgagcaggccgagcggaag
cccaaacccaaccccaacctactcttctcagacgtgtatcaggagatgcccgcccagctc
cgcaagcagcaggagtctctggcccgccacctgcagacctacggggagcactacccactg
gatcacttcgataagtga
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