KEGG   Homo sapiens (human): 593Help
Entry
593               CDS       T01001                                 

Gene name
BCKDHA, BCKDE1A, MSU, MSUD1, OVD1A
Definition
branched chain keto acid dehydrogenase E1, alpha polypeptide (EC:1.2.4.4)
Orthology
K00166  
2-oxoisovalerate dehydrogenase E1 component alpha subunit [EC:1.2.4.4]
Organism
hsa  Homo sapiens (human)
Pathway
Valine, leucine and isoleucine degradation
Metabolic pathways
Module
Leucine degradation, leucine => acetoacetate + acetyl-CoA
Disease
H00172  
Maple syrup urine disease (MSUD)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  Amino acid metabolism
   00280 Valine, leucine and isoleucine degradation
    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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
19q13.1-q13.2
AA seq 445 aa AA seqDB search
MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQFSSLDDKPQFPGASAE
FIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILY
ESQRQGRISFYMTNYGEEGTHVGSAAALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYG
NISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYAAKRANANRVVICYFGEGA
ASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIAARGPGYGIMSIRVDG
NDVFAVYNATKEARRRAVAENQPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHP
ISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNLLFSDVYQEMPAQL
RKQQESLARHLQTYGEHYPLDHFDK
NT seq 1338 nt NT seq  +upstreamnt  +downstreamnt
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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