Gene/Proteome Database (LMPD)

LMPD ID
LMP003836
Gene ID
594
Species
Homo sapiens (Human)
Gene Name
branched chain keto acid dehydrogenase E1, beta polypeptide
Gene Symbol
BCKDHB
Synonyms
E1B; dJ279A18.1
Alternate Names
2-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
Chromosome
6
Map Location
6q14.1
EC Number
1.2.4.4
Summary
Branched-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]
Orthologs
View 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
MAVVAAAAGWLLRLRAAGAEGHWRRLPGAGLARGFLHPAATVEDAAQRRQVAHFTFQPDPEPREYGQTQKMNLFQSVTSALDNSLAKDPTAVIFGEDVAFGGVFRCTVGLRDKYGKDRVFNTPLCEQGIVGFGIGIAVTGATAIAEIQFADYIFPAFDQIVNEAAKYRYRSGDLFNCGSLTIRSPWGCVGHGALYHSQSPEAFFAHCPGIKVVIPRSPFQAKGLLLSCIEDKNPCIFFEPKILYRAAAEEVPIEPYNIPLSQAEVIQEGSDVTLVAWGTQVHVIREVASMAKEKLGVSCEVIDLRTIIPWDVDTICKSVIKTGRLLISHEAPLTGGFASEISSTVQEECFLNLEAPISRVCGYDTPFPHIFEPFYIPDKWKCYDALRKMINY
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: VAHFTFQPDPEPREYGQTQKMNLFQSVTSALDNSLAKDPTAVIFGEDVAFGGVFRCTVGLRDKYGKDRVFNTPLCEQGIVGFGIGIAVTGATAIAEIQFADYIFPAFDQIVNEAAKYRYRSGDLFNCGSLTIRSPWGCVGHGALYHSQSPEAFFAHCPGIKVVIPRSPFQAKGLLLSCIEDKNPCIFFEPKILYRAAAEEVPIEPYNIPLSQAEVIQEGSDVTLVAWGTQVHVIREVASMAKEKLGVSCEVIDLRTIIPWDVDTICKSVIKTGRLLISHEAPLTGGFASEISSTVQEECFLNLEAPISRVCGYDTPFPHIFEPFYIPDKWKCYDALRKMINY 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: VAHFTFQPDPEPREYGQTQKMNLFQSVTSALDNSLAKDPTAVIFGEDVAFGGVFRCTVGLRDKYGKDRVFNTPLCEQGIVGFGIGIAVTGATAIAEIQFADYIFPAFDQIVNEAAKYRYRSGDLFNCGSLTIRSPWGCVGHGALYHSQSPEAFFAHCPGIKVVIPRSPFQAKGLLLSCIEDKNPCIFFEPKILYRAAAEEVPIEPYNIPLSQAEVIQEGSDVTLVAWGTQVHVIREVASMAKEKLGVSCEVIDLRTIIPWDVDTICKSVIKTGRLLISHEAPLTGGFASEISSTVQEECFLNLEAPISRVCGYDTPFPHIFEPFYIPDKWKCYDALRKMINY
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)

Gene Information

Entrez Gene ID
594
Gene Name
branched chain keto acid dehydrogenase E1, beta polypeptide
Gene Symbol
BCKDHB
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005947 IMP:HGNC C mitochondrial alpha-ketoglutarate dehydrogenase complex
GO:0005759 TAS:Reactome C mitochondrial matrix
GO:0005739 IMP:HGNC C mitochondrion
GO:0003863 TAS:ProtInc F 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity
GO:0003826 IEA:Ensembl F alpha-ketoacid dehydrogenase activity
GO:0016831 TAS:HGNC F carboxy-lyase activity
GO:0009083 IMP:HGNC P branched-chain amino acid catabolic process
GO:0034641 TAS:Reactome P cellular nitrogen compound metabolic process
GO:0051591 IEA:Ensembl P response to cAMP
GO:0051384 IEA:Ensembl P response to glucocorticoid
GO:0007584 IEA:Ensembl P response to nutrient
GO:0044281 TAS:Reactome P small molecule metabolic process

BIOCYC Pathway Links

BIOCYC Pathway ID Description
PWY-5046 2-oxoisovalerate decarboxylation to isobutanoyl-CoA
ILEUDEG-PWY isoleucine degradation I

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_197 Branched-chain amino acid catabolism

Domain Information

InterPro Annotations

Accession Description
IPR029061 Thiamin diphosphate-binding fold
IPR005476 Transketolase, C-terminal
IPR009014 Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II
IPR005475 Transketolase-like, pyrimidine-binding domain

UniProt Annotations

Entry Information

Gene Name
branched chain keto acid dehydrogenase E1, beta polypeptide
Protein Entry
ODBB_HUMAN
UniProt ID
P21953
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P21953-1; Sequence=Displayed; Name=2; IsoId=P21953-2; Sequence=VSP_056370, VSP_056371; Note=No experimental confirmation available.;
Catalytic Activity 3-methyl-2-oxobutanoate + [dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] lipoyllysine = [dihydrolipoyllysine-residue (2- methylpropanoyl)transferase] S-(2- methylpropanoyl)dihydrolipoyllysine + CO(2).
Disease Maple syrup urine disease 1B (MSUD1B) [MIM
Function The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3).
Interaction P12694:BCKDHA; NbExp=14; IntAct=EBI-1029067, EBI-1029053;
Subcellular Location Mitochondrion matrix.
Subunit Heterotetramer of 2 alpha and 2 beta chains.

Identical and Related Proteins

Unique RefSeq proteins for LMP003836 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
34101272 RefSeq NP_898871 392 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial precursor

Identical Sequences to LMP003836 proteins

Reference Database Accession Length Protein Name
GI:34101272 GenBank AGU32349.1 392 Sequence 35 from patent US 8507277
GI:34101272 GenBank AGX48253.1 392 Sequence 35 from patent US 8541550
GI:34101272 GenBank AHD74461.1 392 Sequence 14478 from patent US 8586006
GI:34101272 GenBank AHD74462.1 392 Sequence 14479 from patent US 8586006
GI:34101272 GenBank AIC48351.1 392 BCKDHB, partial [synthetic construct]
GI:34101272 RefSeq XP_009449866.1 392 PREDICTED: 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform X1 [Pan troglodytes]

Related Sequences to LMP003836 proteins

Reference Database Accession Length Protein Name
GI:34101272 GenBank AAV38888.1 393 branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease), partial [synthetic construct]
GI:34101272 GenBank AAW00671.1 392 Sequence 52 from patent US 6773917
GI:34101272 GenBank AAX42758.1 393 branched chain keto acid dehydrogenase E1 beta polypeptide, partial [synthetic construct]
GI:34101272 RefSeq XP_009449868.1 392 PREDICTED: 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform X2 [Pan troglodytes]
GI:34101272 RefSeq XP_010386837.1 392 PREDICTED: 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform X1 [Rhinopithecus roxellana]
GI:34101272 RefSeq XP_010386838.1 392 PREDICTED: 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform X1 [Rhinopithecus roxellana]