Gene/Proteome Database (LMPD)

LMPD ID
LMP005481
Gene ID
593
Species
Homo sapiens (Human)
Gene Name
branched chain keto acid dehydrogenase E1, alpha polypeptide
Gene Symbol
BCKDHA
Synonyms
BCKDE1A; MSU; MSUD1; OVD1A
Alternate Names
2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial; BCKDH E1-alpha; 2-oxoisovalerate dehydrogenase (lipoamide); branched-chain alpha-keto acid dehydrogenase E1 component alpha chain
Chromosome
19
Map Location
19q13.1-q13.2
EC Number
1.2.4.4
Summary
The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Orthologs
View orthologs and multiple alignments for BCKDHA

Proteins

2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 1 precursor
Refseq ID NP_000700
Protein GI 11386135
UniProt ID P12694
mRNA ID NM_000709
Length 445
RefSeq Status REVIEWED
MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQFSSLDDKPQFPGASAEFIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILYESQRQGRISFYMTNYGEEGTHVGSAAALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYGNISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYAAKRANANRVVICYFGEGAASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIAARGPGYGIMSIRVDGNDVFAVYNATKEARRRAVAENQPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHPISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNLLFSDVYQEMPAQLRKQQESLARHLQTYGEHYPLDHFDK
2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 2 precursor
Refseq ID NP_001158255
Protein GI 258645172
UniProt ID P12694
mRNA ID NM_001164783
Length 444
RefSeq Status REVIEWED
MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQFSSLDDKPQFPGASAEFIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILYESQRQGRISFYMTNYGEEGTHVGSAAALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYGNISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYAAKRANANRVVICYFGEGAASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIARGPGYGIMSIRVDGNDVFAVYNATKEARRRAVAENQPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHPISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNLLFSDVYQEMPAQLRKQQESLARHLQTYGEHYPLDHFDK
transit_peptide: 1..45 calculated_mol_wt: 4976 peptide sequence: MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQF mat_peptide: 46..445 product: 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 1 calculated_mol_wt: 45513 peptide sequence: SSLDDKPQFPGASAEFIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILYESQRQGRISFYMTNYGEEGTHVGSAAALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYGNISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYAAKRANANRVVICYFGEGAASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIAARGPGYGIMSIRVDGNDVFAVYNATKEARRRAVAENQPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHPISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNLLFSDVYQEMPAQLRKQQESLARHLQTYGEHYPLDHFDK transit_peptide: 1..45 calculated_mol_wt: 4976 peptide sequence: MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQF mat_peptide: 46..444 product: 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 2 calculated_mol_wt: 45442 peptide sequence: SSLDDKPQFPGASAEFIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILYESQRQGRISFYMTNYGEEGTHVGSAAALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYGNISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYAAKRANANRVVICYFGEGAASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIARGPGYGIMSIRVDGNDVFAVYNATKEARRRAVAENQPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHPISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNLLFSDVYQEMPAQLRKQQESLARHLQTYGEHYPLDHFDK

Gene Information

Entrez Gene ID
593
Gene Name
branched chain keto acid dehydrogenase E1, alpha polypeptide
Gene Symbol
BCKDHA
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005947 IDA:HGNC C mitochondrial alpha-ketoglutarate dehydrogenase complex
GO:0005759 TAS:Reactome C mitochondrial matrix
GO:0005739 IDA:UniProt C mitochondrion
GO:0003863 TAS:ProtInc F 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity
GO:0003826 IDA:HGNC F alpha-ketoacid dehydrogenase activity
GO:0016831 TAS:HGNC F carboxy-lyase activity
GO:0046872 IEA:UniProtKB-KW F metal ion binding
GO:0009083 IDA: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
IPR001017 Dehydrogenase, E1 component
IPR029061 Thiamin diphosphate-binding fold

UniProt Annotations

Entry Information

Gene Name
branched chain keto acid dehydrogenase E1, alpha polypeptide
Protein Entry
ODBA_HUMAN
UniProt ID
P12694
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P12694-1; Sequence=Displayed; Name=2; IsoId=P12694-2; Sequence=VSP_056156, VSP_056157; 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).
Cofactor Name=thiamine diphosphate; Xref=ChEBI
Disease Maple syrup urine disease 1A (MSUD1A) [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 P21953:BCKDHB; NbExp=14; IntAct=EBI-1029053, EBI-1029067;
Miscellaneous Bound potassium ions stabilize the protein structure.
Sequence Caution Sequence=AAB59549.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ;
Similarity Belongs to the BCKDHA family.
Subcellular Location Mitochondrion matrix.
Subunit Heterotetramer of alpha and beta chains.

Identical and Related Proteins

Unique RefSeq proteins for LMP005481 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
11386135 RefSeq NP_000700 445 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 1 precursor
258645172 RefSeq NP_001158255 444 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 2 precursor

Identical Sequences to LMP005481 proteins

Reference Database Accession Length Protein Name
GI:258645172 DBBJ BAD93065.1 444 branched chain keto acid dehydrogenase E1, alpha polypeptide variant, partial [Homo sapiens]
GI:11386135 GenBank AEQ84577.1 445 Sequence 71 from patent US 8039587
GI:11386135 GenBank AEU53440.1 445 Sequence 71 from patent US 8062891
GI:11386135 GenBank AGO72393.1 445 Sequence 71 from patent US 8470972
GI:11386135 GenBank AGU32384.1 445 Sequence 71 from patent US 8507277
GI:11386135 GenBank AGX48288.1 445 Sequence 71 from patent US 8541550
GI:11386135 GenBank AHD78836.1 445 Sequence 28480 from patent US 8586006

Related Sequences to LMP005481 proteins

Reference Database Accession Length Protein Name
GI:11386135 DBBJ BAD93065.1 444 branched chain keto acid dehydrogenase E1, alpha polypeptide variant, partial [Homo sapiens]
GI:11386135 DBBJ BAG36106.1 445 unnamed protein product [Homo sapiens]
GI:11386135 GenBank AAB59549.1 444 branched-chain alpha-keto acid dehydrogenase, partial [Homo sapiens]
GI:11386135 GenBank AAB20222.2 443 branched-chain alpha-keto acid dehydrogenase E1 alpha subunit, partial [Homo sapiens]
GI:258645172 GenBank AAH23983.1 445 Branched chain keto acid dehydrogenase E1, alpha polypeptide [Homo sapiens]
GI:258645172 GenBank EAW57039.1 445 branched chain keto acid dehydrogenase E1, alpha polypeptide, isoform CRA_a [Homo sapiens]
GI:258645172 GenBank EAW57040.1 445 branched chain keto acid dehydrogenase E1, alpha polypeptide, isoform CRA_a [Homo sapiens]
GI:258645172 GenBank AEU53440.1 445 Sequence 71 from patent US 8062891
GI:258645172 GenBank AGO72393.1 445 Sequence 71 from patent US 8470972
GI:11386135 GenBank AIC54061.1 445 BCKDHA, partial [synthetic construct]
GI:258645172 RefSeq NP_000700.1 445 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 1 precursor [Homo sapiens]
GI:11386135 RefSeq NP_001158255.1 444 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 2 precursor [Homo sapiens]