LMPD Database

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LMP003836

Record overview

LMPD IDLMP003836
Gene ID594
SpeciesHomo sapiens (Human)
Gene Namebranched chain keto acid dehydrogenase E1, beta polypeptide
Gene SymbolBCKDHB
SynonymsE1B; dJ279A18.1
Alternate names2-oxoisovalerate dehydrogenase subunit beta, mitochondrial; BCKDE1B; BCKDH E1-beta; 2-oxoisovalerate dehydrogenase beta subunit; E1b-beta subunit of the branched-chain complex; branched chain alpha-ketoacid dehydrogenase E1-beta subunit; branched-chain alpha-keto acid dehydrogenase E1 component beta chain
Chromosome6
Map Location6q14.1
EC Number1.2.4.4
SummaryBranched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation, and feeding problems. Alternative splicing at this locus results in transcript variants with different 3' non-coding regions, but encoding the same isoform. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for BCKDHB

Proteins

2-oxoisovalerate dehydrogenase subunit beta, mitochondrial precursor
Refseq ID:NP_898871
Protein GI:34101272
UniProt ID:P21953
mRNA ID:NM_183050
Length:392
RefSeq Status:REVIEWED
MAVVAAAAGWLLRLRAAGAEGHWRRLPGAGLARGFLHPAATVEDAAQRRQVAHFTFQPDPEPREYGQTQKMNLFQSVTSALDNSLAKDPTAVIFGEDVAF
GGVFRCTVGLRDKYGKDRVFNTPLCEQGIVGFGIGIAVTGATAIAEIQFADYIFPAFDQIVNEAAKYRYRSGDLFNCGSLTIRSPWGCVGHGALYHSQSP
EAFFAHCPGIKVVIPRSPFQAKGLLLSCIEDKNPCIFFEPKILYRAAAEEVPIEPYNIPLSQAEVIQEGSDVTLVAWGTQVHVIREVASMAKEKLGVSCE
VIDLRTIIPWDVDTICKSVIKTGRLLISHEAPLTGGFASEISSTVQEECFLNLEAPISRVCGYDTPFPHIFEPFYIPDKWKCYDALRKMINY
 
transit_peptide: 1..50
calculated_mol_wt: 5275
peptide sequence: 
MAVVAAAAGWLLRLRAAGAEGHWRRLPGAGLARGFLHPAATVEDAAQRRQ

mat_peptide: 51..392
product: 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
calculated_mol_wt: 37866
peptide sequence: 
VAHFTFQPDPEPREYGQTQKMNLFQSVTSALDNSLAKDPTAVIFGEDVAFGGVFRCTVGLRDKYGKDRVFNTPLCEQGIVGFGIGIAVTGATAIAEIQFA
DYIFPAFDQIVNEAAKYRYRSGDLFNCGSLTIRSPWGCVGHGALYHSQSPEAFFAHCPGIKVVIPRSPFQAKGLLLSCIEDKNPCIFFEPKILYRAAAEE
VPIEPYNIPLSQAEVIQEGSDVTLVAWGTQVHVIREVASMAKEKLGVSCEVIDLRTIIPWDVDTICKSVIKTGRLLISHEAPLTGGFASEISSTVQEECF
LNLEAPISRVCGYDTPFPHIFEPFYIPDKWKCYDALRKMINY

transit_peptide: 1..50
calculated_mol_wt: 5275
peptide sequence: 
MAVVAAAAGWLLRLRAAGAEGHWRRLPGAGLARGFLHPAATVEDAAQRRQ

mat_peptide: 51..392
product: 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
calculated_mol_wt: 37866
peptide sequence: 
VAHFTFQPDPEPREYGQTQKMNLFQSVTSALDNSLAKDPTAVIFGEDVAFGGVFRCTVGLRDKYGKDRVFNTPLCEQGIVGFGIGIAVTGATAIAEIQFA
DYIFPAFDQIVNEAAKYRYRSGDLFNCGSLTIRSPWGCVGHGALYHSQSPEAFFAHCPGIKVVIPRSPFQAKGLLLSCIEDKNPCIFFEPKILYRAAAEE
VPIEPYNIPLSQAEVIQEGSDVTLVAWGTQVHVIREVASMAKEKLGVSCEVIDLRTIIPWDVDTICKSVIKTGRLLISHEAPLTGGFASEISSTVQEECF
LNLEAPISRVCGYDTPFPHIFEPFYIPDKWKCYDALRKMINY
 
2-oxoisovalerate dehydrogenase subunit beta, mitochondrial precursor
Refseq ID:NP_000047
Protein GI:4557353
UniProt ID:P21953
mRNA ID:NM_000056
Length:392
RefSeq Status:REVIEWED
Protein sequence is identical to GI:34101272 (mRNA isoform)