KEGG   Homo sapiens (human): 594
Entry
594               CDS       T01001                                 
Symbol
BCKDHB, BCKDE1B, BCKDH_E1-beta, E1B, MSUD1B, OVD1B
Name
(RefSeq) branched chain keto acid dehydrogenase E1 subunit beta
  KO
K00167  2-oxoisovalerate dehydrogenase E1 component subunit beta [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
    594 (BCKDHB)
  09105 Amino acid metabolism
   00280 Valine, leucine and isoleucine degradation
    594 (BCKDHB)
  09108 Metabolism of cofactors and vitamins
   00785 Lipoic acid metabolism
    594 (BCKDHB)
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)
     594 (BCKDHB)
SSDB
Motif
Pfam: Transket_pyr Transketolase_C
Other DBs
NCBI-GeneID: 594
NCBI-ProteinID: NP_000047
OMIM: 248611
HGNC: 987
Ensembl: ENSG00000083123
UniProt: P21953 A0A140VKB3
Structure
Position
6:80106610..80466676
AA seq 392 aa
MAVVAAAAGWLLRLRAAGAEGHWRRLPGAGLARGFLHPAATVEDAAQRRQVAHFTFQPDP
EPREYGQTQKMNLFQSVTSALDNSLAKDPTAVIFGEDVAFGGVFRCTVGLRDKYGKDRVF
NTPLCEQGIVGFGIGIAVTGATAIAEIQFADYIFPAFDQIVNEAAKYRYRSGDLFNCGSL
TIRSPWGCVGHGALYHSQSPEAFFAHCPGIKVVIPRSPFQAKGLLLSCIEDKNPCIFFEP
KILYRAAAEEVPIEPYNIPLSQAEVIQEGSDVTLVAWGTQVHVIREVASMAKEKLGVSCE
VIDLRTIIPWDVDTICKSVIKTGRLLISHEAPLTGGFASEISSTVQEECFLNLEAPISRV
CGYDTPFPHIFEPFYIPDKWKCYDALRKMINY
NT seq 1179 nt   +upstreamnt  +downstreamnt
atggcggttgtagcggcggctgccggctggctactcaggctcagggcggcaggggctgag
gggcactggcgtcggcttcctggcgcggggctggcgcggggctttttgcaccccgccgcg
actgtcgaggatgcggcccagaggcggcaggtggctcattttactttccagccagatccg
gagccccgggagtacgggcaaactcagaaaatgaatcttttccagtctgtaacaagtgcc
ttggataactcattggccaaagatcctactgcagtaatatttggtgaagatgttgccttt
ggtggagtctttagatgcactgttggcttgcgagacaaatatggaaaagatagagttttt
aataccccattgtgtgaacaaggaattgttggatttggaatcggaattgcggtcactgga
gctactgccattgcggaaattcagtttgcagattatattttccctgcatttgatcagatt
gttaatgaagctgccaagtatcgctatcgctctggggatctttttaactgtggaagcctc
actatccggtccccttggggctgtgttggtcatggggctctctatcattctcagagtcct
gaagcattttttgcccattgcccaggaatcaaggtggttatacccagaagccctttccag
gccaaaggacttcttttgtcatgcatagaggataaaaatccttgtatattttttgaacct
aaaatactttacagggcagcagcggaagaagtccctatagaaccatacaacatcccactg
tcccaggccgaagtcatacaggaagggagtgatgttactctagttgcctggggcactcag
gttcatgtgatccgagaggtagcttccatggcaaaagaaaagcttggagtgtcttgtgaa
gtcattgatctgaggactataataccttgggatgtggacacaatttgtaagtctgtgatc
aaaacagggcgactgctaatcagtcacgaggctcccttgacaggcggctttgcatcggaa
atcagctctacagttcaggaggaatgtttcttgaacctagaggctcctatatcaagagta
tgtggttatgacacaccatttcctcacatttttgaaccattctacatcccagacaaatgg
aagtgttatgatgcccttcgaaaaatgatcaactattga

  All links  
Disease (2)   
   OMIM (2)   
Gene (10)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (28)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (25)   
DNA sequence (107)   
   RefSeq(nuc) (37)   
   GenBank (35)   
   EMBL (35)   
3D Structure (24)   
   PDB (24)   
Protein domain (2)   
   Pfam (2)   
All databases (173)   

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