KEGG   Homo sapiens (human): 593
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)
SSDB
Motif
Pfam: E1_dh TPP_enzyme_C DXP_synthase_N
Other DBs
NCBI-GeneID: 593
NCBI-ProteinID: NP_000700
OMIM: 608348
HGNC: 986
Ensembl: ENSG00000248098
UniProt: P12694
Structure
Position
19:41397818..41425002
AA seq 445 aa
MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQFSSLDDKPQFPGASAE
FIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILY
ESQRQGRISFYMTNYGEEGTHVGSAAALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYG
NISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYAAKRANANRVVICYFGEGA
ASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIAARGPGYGIMSIRVDG
NDVFAVYNATKEARRRAVAENQPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHP
ISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNLLFSDVYQEMPAQL
RKQQESLARHLQTYGEHYPLDHFDK
NT seq 1338 nt   +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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (6)   
   KEGG PATHWAY (5)   
   KEGG MODULE (1)   
Network (3)   
   KEGG NETWORK (3)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical substance (22)   
   KEGG COMPOUND (22)   
Chemical reaction (15)   
   KEGG ENZYME (1)   
   KEGG REACTION (14)   
Genome (1)   
   KEGG GENOME (1)   
Gene (22)   
   KEGG ORTHOLOGY (1)   
   RefGene (8)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (8)   
   OC (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (48)   
   RefSeq(nuc) (2)   
   GenBank (23)   
   EMBL (23)   
3D Structure (24)   
   PDB (24)   
Protein domain (3)   
   Pfam (3)   
All databases (153)   

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