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

Gene name
BCKDHA, BCKDE1A, MSU, MSUD1, OVD1A
Definition
(RefSeq) branched chain keto acid dehydrogenase E1 subunit alpha
  KO
K00166  2-oxoisovalerate dehydrogenase E1 component alpha subunit [EC:1.2.4.4]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00280  Valine, leucine and isoleucine degradation
hsa00640  Propanoate metabolism
hsa01100  Metabolic pathways
Module
hsa_M00036  Leucine degradation, leucine => acetoacetate + acetyl-CoA
Network
nt06024  Valine, leucine and isoleucine degradation
  Element
N00832  Branched-chain amino acids degradation
N00838  BCKDHA deficiency in branched-chain amino acids degradation
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)
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
Vega: OTTHUMG00000168128
Pharos: P12694(Tbio)
UniProt: P12694 A0A024R0K3
LinkDB
Structure
PDB: 

Position
19q13.2
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

KEGG   Homo sapiens (human): 594
Entry
594               CDS       T01001                                 

Gene name
BCKDHB, BCKDE1B, BCKDH_E1-beta, E1B
Definition
(RefSeq) branched chain keto acid dehydrogenase E1 subunit beta
  KO
K00167  2-oxoisovalerate dehydrogenase E1 component beta subunit [EC:1.2.4.4]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00280  Valine, leucine and isoleucine degradation
hsa00640  Propanoate metabolism
hsa01100  Metabolic pathways
Module
hsa_M00036  Leucine degradation, leucine => acetoacetate + acetyl-CoA
Network
nt06024  Valine, leucine and isoleucine degradation
  Element
N00832  Branched-chain amino acids degradation
N00839  BCKDHB deficiency in branched-chain amino acids degradation
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)
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
Vega: OTTHUMG00000016430
Pharos: P21953(Tbio)
UniProt: P21953 A0A140VKB3
LinkDB
Structure
PDB: 

Position
6q14.1
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

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