• Gene id: 593

Gene Summary

• Gene Symbol: BCKDHA   Gene   UCSC   Ensembl
• Aliases: BCKDE1A, MSU, MSUD1, OVD1A
• Gene name: branched chain keto acid dehydrogenase E1 subunit alpha
• Alternate names: 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial, 2-oxoisovalerate dehydrogenase (lipoamide), BCKDH E1-alpha, branched chain keto acid dehydrogenase E1 alpha protein, branched chain keto acid dehydrogenase E1, alpha polypeptide, branched-chain alpha,
• Gene location: 19q13.2 (41397817: 41425001)     Exons: 9     NC_000019.10
• Gene summary(Entrez): 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 con
• OMIM: 601671

Protein Summary

• Protein general information: P12694  
  • Name: 2 oxoisovalerate dehydrogenase subunit alpha, mitochondrial (EC 1.2.4.4) (Branched chain alpha keto acid dehydrogenase E1 component alpha chain) (BCKDE1A) (BCKDH E1 alpha)
  • Length: 445  
  • Mass: 50471
• Sequence:

  MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQFSSLDDKPQFPGASAEFIDKLEFIQPNVISG
  IPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILYESQRQGRISFYMTNYGEEGTHVGSAAALDN
  TDLVFGQYREAGVLMYRDYPLELFMAQCYGNISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYAAKR
  ANANRVVICYFGEGAASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIAARGPGYGIMSIRVDG
  NDVFAVYNATKEARRRAVAENQPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHPISRLRHYLLSQGWWD
  EEQEKAWRKQSRRKVMEAFEQAERKPKPNPNLLFSDVYQEMPAQLRKQQESLARHLQTYGEHYPLDHFDK

• Structural information:
  • Interpro: IPR034616  IPR001017  IPR029061  
  • PDB: 1DTW 1OLS 1OLU 1OLX 1U5B 1V11 1V16 1V1M 1V1R 1WCI 1X7W 1X7X 1X7Y 1X7Z 1X80 2BEU 2BEV 2BEW 2BFB 2BFC 2BFD 2BFE 2BFF 2J9F
  • PDBsum: 1DTW 1OLS 1OLU 1OLX 1U5B 1V11 1V16 1V1M 1V1R 1WCI 1X7W 1X7X 1X7Y 1X7Z 1X80 2BEU 2BEV 2BEW 2BFB 2BFC 2BFD 2BFE 2BFF 2J9F
  • DIP: 6146
  • STRING: ENSP00000269980
• Other Databases: GeneCards:  BCKDHA  Malacards:  BCKDHA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003826	alpha-ketoacid dehydrogenase activity	IDA	molecular function
GO:0009083	branched-chain amino acid catabolic process	IDA	biological process
GO:0016831	carboxy-lyase activity	TAS	molecular function
GO:0005947	mitochondrial alpha-ketoglutarate dehydrogenase complex	IDA	cellular component
GO:0005739	mitochondrion	TAS	cellular component
GO:0009083	branched-chain amino acid catabolic process	IBA	biological process
GO:0005947	mitochondrial alpha-ketoglutarate dehydrogenase complex	IBA	cellular component
GO:0003826	alpha-ketoacid dehydrogenase activity	IBA	molecular function
GO:0016624	oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor	IEA	molecular function
GO:0003826	alpha-ketoacid dehydrogenase activity	IEA	molecular function
GO:0003863	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity	IEA	molecular function
GO:0009083	branched-chain amino acid catabolic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0003863	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity	TAS	molecular function
GO:0003863	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0009083	branched-chain amino acid catabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00280	Valine, leucine and isoleucine degradation
hsa00640	Propanoate metabolism

Diseases

Associated diseases	References
Maple syrup urine disease	KEGG:H00172
Maple syrup urine disease	KEGG:H00172
Maple syrup urine disease	PMID:1943689
Maple syrup urine disease	PMID:8037208
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq