Center for Bioinformatics
Oxidoreductases | Transferases | Hydrolases | Lyases | Isomerases | Ligases

Basic Information

Gene ID

593, BCKDHA

Enzyme Number

1.2.4.4

RLRdb entry

RL00209

Organisms

Human (9606)

Synonyms

BCKDE1A|FLJ45695|MSU|MSUD1|OVD1A;
BCKDHA;
branched chain keto acid dehydrogenase E1, alpha polypeptide;
2-oxoisovalerate dehydrogenase (lipoamide)|branched-chain alpha-keto acid dehydrogenase complex E1 alpha subunit|maple syrup urine disease

Description

branched chain keto acid dehydrogenase E1, alpha polypeptide

Xrefs

HGNC:986| MIM:608348| Ensembl:ENSG00000142046| HPRD:02009

Chromosome

19 : 19q13.1-q13.2

Links to iHOP

593

Interaction Information

Gene in RLRdb

Interacted gene (Reference)

593 10295 PMID: 17353931

Sequence Information

Nucleotide sequence

>593 : length: 1338
atggcggtagcgatcgctgcagcgagggtctggcggctaaaccgtggtttgagccaggct
gccctcctgctgctgcggcagcctggggctcggggactggctagatctcacccccccagg
cagcagcagcagttttcatctctggatgacaagccccagttcccaggggcctcggcggag
tttatagataagttggaattcatccagcccaacgtcatctctggaatccccatctaccgc
gtcatggaccggcaaggccagatcatcaaccccagcgaggacccccacctgccgaaggag
aaggtgctgaagctctacaagagcatgacactgcttaacaccatggaccgcatcctctat
gagtctcagcggcagggccggatctccttctacatgaccaactatggtgaggagggcacg
cacgtggggagtgccgccgccctggacaacacggacctggtgtttggccagtaccgggag
gcaggtgtgctgatgtatcgggactaccccctggaactattcatggcccagtgctatggc
aacatcagtgacttgggcaaggggcgccagatgcctgtccactacggctgcaaggaacgc
cacttcgtcactatctcctctccactggccacgcagatccctcaggcggtgggggcggcg
tacgcagccaagcgggccaatgccaacagggtcgtcatctgttacttcggcgagggggca
gccagtgagggggacgcccatgccggcttcaacttcgctgccacacttgagtgccccatc
atcttcttctgccggaacaatggctacgccatctccacgcccacctctgagcagtatcgc
ggcgatggcattgcagcacgaggccccgggtatggcatcatgtcaatccgcgtggatggt
aatgatgtgtttgccgtatacaacgccacaaaggaggcccgacggcgggctgtggcagag
aaccagcccttcctcatcgaggccatgacctacaggatcgggcaccacagcaccagtgac
gacagttcagcgtaccgctcggtggatgaggtcaattactgggataaacaggaccacccc
atctcccggctgcggcactatctgctgagccaaggctggtgggatgaggagcaggagaag
gcctggaggaagcagtcccgcaggaaggtgatggaggcctttgagcaggccgagcggaag
cccaaacccaaccccaacctactcttctcagacgtgtatcaggagatgcccgcccagctc
cgcaagcagcaggagtctctggcccgccacctgcagacctacggggagcactacccactg
gatcacttcgataagtga

Protein sequence

>593 : length: 445
MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQFSSLDDKPQFPGASAE
FIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILY
ESQRQGRISFYMTNYGEEGTHVGSAAALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYG
NISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYAAKRANANRVVICYFGEGA
ASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIAARGPGYGIMSIRVDG
NDVFAVYNATKEARRRAVAENQPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHP
ISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNLLFSDVYQEMPAQL
RKQQESLARHLQTYGEHYPLDHFDK



Basic Information

Gene ID

594, BCKDHB

Enzyme Number

1.2.4.4

RLRdb entry

RL00209

Organisms

Human (9606)

Synonyms

E1B|FLJ17880|dJ279A18.1;
BCKDHB;
branched chain keto acid dehydrogenase E1, beta polypeptide;
2-oxoisovalerate dehydrogenase beta subunit|E1b-beta subunit of the branched-chain complex|OTTHUMP00000018048|OTTHUMP00000018049|branched chain alpha-ketoacid dehydrogenase E1-beta subunit|branched chain keto acid dehydrogenase E1 beta polypeptide|branched-chain alpha-keto acid dehydrogenase E1 component beta chain

Description

branched chain keto acid dehydrogenase E1, beta polypeptide

Xrefs

HGNC:987| MIM:248611| Ensembl:ENSG00000083123| HPRD:02011

Chromosome

6 : 6q13-q15

Links to iHOP

594

Interaction Information

Gene in RLRdb

Interacted gene (Reference)

594 10295 PMID: 1377677

Sequence Information

Nucleotide sequence

>594 : length: 1179
atggcggttgtagcggcggctgccggctggctactcaggctcagggcggcaggggctgag
gggcactggcgtcggcttcctggcgcggggctggcgcggggctttttgcaccccgccgcg
actgtcgaggatgcggcccagaggcggcaggtggctcattttactttccagccagatccg
gagccccgggagtacgggcaaactcagaaaatgaatcttttccagtctgtaacaagtgcc
ttggataactcattggccaaagatcctactgcagtaatatttggtgaagatgttgccttt
ggtggagtctttagatgcactgttggcttgcgagacaaatatggaaaagatagagttttt
aataccccattgtgtgaacaaggaattgttggatttggaatcggaattgcggtcactgga
gctactgccattgcggaaattcagtttgcagattatattttccctgcatttgatcagatt
gttaatgaagctgccaagtatcgctatcgctctggggatctttttaactgtggaagcctc
actatccggtccccttggggctgtgttggtcatggggctctctatcattctcagagtcct
gaagcattttttgcccattgcccaggaatcaaggtggttatacccagaagccctttccag
gccaaaggacttcttttgtcatgcatagaggataaaaatccttgtatattttttgaacct
aaaatactttacagggcagcagcggaagaagtccctatagaaccatacaacatcccactg
tcccaggccgaagtcatacaggaagggagtgatgttactctagttgcctggggcactcag
gttcatgtgatccgagaggtagcttccatggcaaaagaaaagcttggagtgtcttgtgaa
gtcattgatctgaggactataataccttgggatgtggacacaatttgtaagtctgtgatc
aaaacagggcgactgctaatcagtcacgaggctcccttgacaggcggctttgcatcggaa
atcagctctacagttcaggaggaatgtttcttgaacctagaggctcctatatcaagagta
tgtggttatgacacaccatttcctcacatttttgaaccattctacatcccagacaaatgg
aagtgttatgatgcccttcgaaaaatgatcaactattga

Protein sequence

>594 : length: 392
MAVVAAAAGWLLRLRAAGAEGHWRRLPGAGLARGFLHPAATVEDAAQRRQVAHFTFQPDP
EPREYGQTQKMNLFQSVTSALDNSLAKDPTAVIFGEDVAFGGVFRCTVGLRDKYGKDRVF
NTPLCEQGIVGFGIGIAVTGATAIAEIQFADYIFPAFDQIVNEAAKYRYRSGDLFNCGSL
TIRSPWGCVGHGALYHSQSPEAFFAHCPGIKVVIPRSPFQAKGLLLSCIEDKNPCIFFEP
KILYRAAAEEVPIEPYNIPLSQAEVIQEGSDVTLVAWGTQVHVIREVASMAKEKLGVSCE
VIDLRTIIPWDVDTICKSVIKTGRLLISHEAPLTGGFASEISSTVQEECFLNLEAPISRV
CGYDTPFPHIFEPFYIPDKWKCYDALRKMINY



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  Last Modified: 2009-03-24  
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