• Gene id: 594

Gene Summary

• Gene Symbol: BCKDHB   Gene   UCSC   Ensembl
• Aliases: BCKDE1B, BCKDH E1-beta, E1B
• Gene name: branched chain keto acid dehydrogenase E1 subunit beta
• Alternate names: 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial, E1b-beta subunit of the branched-chain complex, branched chain alpha-ketoacid dehydrogenase E1-beta subunit, branched chain keto acid dehydrogenase E1, beta polypeptide, branched-chain alpha-keto aci,
• Gene location: 6q14.1 (87876492: 87909552)     Exons: 12     NC_000007.14
• Gene summary(Entrez): This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in
• OMIM: 248611

SNPs

rs1801085

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.27128971A>G
NC_000007.13   g.27168590A>G
NM_002141.4   c.*254T>C
NM_002141.5   c.*254T>C|SEQ=[A/G]|GENE=HOXA3
HOXA4   3201
HOXA-AS2   285943

Protein Summary

• Protein general information: P21953  
  • Name: 2 oxoisovalerate dehydrogenase subunit beta, mitochondrial (EC 1.2.4.4) (Branched chain alpha keto acid dehydrogenase E1 component beta chain) (BCKDE1B) (BCKDH E1 beta)
  • Length: 392  
  • Mass: 43122
• Sequence:

  MAVVAAAAGWLLRLRAAGAEGHWRRLPGAGLARGFLHPAATVEDAAQRRQVAHFTFQPDPEPREYGQTQKMNLFQ
  SVTSALDNSLAKDPTAVIFGEDVAFGGVFRCTVGLRDKYGKDRVFNTPLCEQGIVGFGIGIAVTGATAIAEIQFA
  DYIFPAFDQIVNEAAKYRYRSGDLFNCGSLTIRSPWGCVGHGALYHSQSPEAFFAHCPGIKVVIPRSPFQAKGLL
  LSCIEDKNPCIFFEPKILYRAAAEEVPIEPYNIPLSQAEVIQEGSDVTLVAWGTQVHVIREVASMAKEKLGVSCE
  VIDLRTIIPWDVDTICKSVIKTGRLLISHEAPLTGGFASEISSTVQEECFLNLEAPISRVCGYDTPFPHIFEPFY
  IPDKWKCYDALRKMINY

• Structural information:
  • Interpro: IPR029061  IPR009014  IPR005475  IPR033248  
  • 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: 6147
  • STRING: ENSP00000318351
• Other Databases: GeneCards:  BCKDHB  Malacards:  BCKDHB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IMP	cellular component
GO:0009083	branched-chain amino acid catabolic process	IMP	biological process
GO:0005947	mitochondrial alpha-ketoglutarate dehydrogenase complex	IMP	cellular component
GO:0007584	response to nutrient	IBA	biological process
GO:0009083	branched-chain amino acid catabolic process	IBA	biological process
GO:0005947	mitochondrial alpha-ketoglutarate dehydrogenase complex	IBA	cellular component
GO:0005739	mitochondrion	IBA	cellular component
GO:0003824	catalytic activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
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:0003826	alpha-ketoacid dehydrogenase activity	IMP	contributes to
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:0003826	alpha-ketoacid dehydrogenase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005730	nucleolus	IDA	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:2022752
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)