MGP Database

MGP000295

Record overview

MGPD ID	MGP000295
Gene ID	593
Species	Homo sapiens (Human)
Gene Name	branched chain keto acid dehydrogenase E1, alpha polypeptide
Gene Symbol	BCKDHA
Synonyms	MSU; MSUD1; OVD1A; BCKDE1A;
Alternate names	2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial; 2-oxoisovalerate dehydrogenase (lipoamide); BCKDH E1-alpha; 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:

MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQFSSLDDKPQFPGASAEFIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKE
KVLKLYKSMTLLNTMDRILYESQRQGRISFYMTNYGEEGTHVGSAAALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYGNISDLGKGRQMPVHYGCKER
HFVTISSPLATQIPQAVGAAYAAKRANANRVVICYFGEGAASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIAARGPGYGIMSIRVDG
NDVFAVYNATKEARRRAVAENQPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHPISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERK
PKPNPNLLFSDVYQEMPAQLRKQQESLARHLQTYGEHYPLDHFDK

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: 
SSLDDKPQFPGASAEFIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILYESQRQGRISFYMTNYGEEGTHVGSA
AALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYGNISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYAAKRANANRVVICYFGEGAASEGD
AHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIARGPGYGIMSIRVDGNDVFAVYNATKEARRRAVAENQPFLIEAMTYRIGHHSTSDDSSAYR
SVDEVNYWDKQDHPISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNLLFSDVYQEMPAQLRKQQESLARHLQTYGEHYPLDHFDK

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: 
SSLDDKPQFPGASAEFIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILYESQRQGRISFYMTNYGEEGTHVGSA
AALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYGNISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYAAKRANANRVVICYFGEGAASEGD
AHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIAARGPGYGIMSIRVDGNDVFAVYNATKEARRRAVAENQPFLIEAMTYRIGHHSTSDDSSAY
RSVDEVNYWDKQDHPISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNLLFSDVYQEMPAQLRKQQESLARHLQTYGEHYPLDHFDK

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:

MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQFSSLDDKPQFPGASAEFIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKE
KVLKLYKSMTLLNTMDRILYESQRQGRISFYMTNYGEEGTHVGSAAALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYGNISDLGKGRQMPVHYGCKER
HFVTISSPLATQIPQAVGAAYAAKRANANRVVICYFGEGAASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIARGPGYGIMSIRVDGN
DVFAVYNATKEARRRAVAENQPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHPISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKP
KPNPNLLFSDVYQEMPAQLRKQQESLARHLQTYGEHYPLDHFDK

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: 
SSLDDKPQFPGASAEFIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILYESQRQGRISFYMTNYGEEGTHVGSA
AALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYGNISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYAAKRANANRVVICYFGEGAASEGD
AHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIARGPGYGIMSIRVDGNDVFAVYNATKEARRRAVAENQPFLIEAMTYRIGHHSTSDDSSAYR
SVDEVNYWDKQDHPISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNLLFSDVYQEMPAQLRKQQESLARHLQTYGEHYPLDHFDK