C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: branched chain keto acid dehydrogenase E1, alpha polypeptide
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000248098 BCKDHA 9606 + 19:41397460-41431345 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000269980 BCKDHA-001 41397460-41425005 protein_coding
  ENST00000457836 BCKDHA-002 41397823-41425001 protein_coding
  ENST00000535632 BCKDHA-008 41415382-41422761 processed_transcript
  ENST00000538423 BCKDHA-005 41397808-41422207 retained_intron
  ENST00000541315 BCKDHA-004 41410722-41422249 protein_coding
  ENST00000542943 BCKDHA-007 41397820-41423075 protein_coding
  ENST00000544905 BCKDHA-006 41423109-41425002 protein_coding
  ENST00000545787 BCKDHA-009 41419023-41422734 retained_intron
  ENST00000595085 BCKDHA-201 41397789-41431345 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryTestisENST00000269980ENST00000457836ENST00000541315ENST00000542943
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Testis
ENST00000269980 N/A N/A N/A 4.402±0.00 3.401±0.00 N/A N/A 6.400±0.00 3.515±0.00 2.001±0.00 6.353±0.00 8.552±7.59 13.844±0.00
ENST00000457836 20.267±0.00 16.867±0.00 N/A 15.539±0.00 18.872±0.00 11.582±10.29 25.705±0.00 38.267±0.00 29.882±0.00 12.505±0.00 32.675±0.00 1.415±0.00 26.045±4.05
ENST00000541315 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 12.872±0.00 N/A N/A
ENST00000542943 28.573±0.00 N/A 3.807±0.00 13.671±7.36 27.014±0.00 N/A 15.694±10.51 N/A 24.636±0.00 N/A 16.726±7.49 N/A 36.864±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0008TR CIL_0008TR_0001 VISTA 19:41131081-41732986
CIL_0003UM CIL_0003UM_0002 CGP 19:41386374-41431345

Gene Ontology
GO IDEvidence TypeGO Description
GO:0003826 IDA alpha-ketoacid dehydrogenase activity
GO:0003863 IEA 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity
GO:0005515 IPI protein binding
GO:0005739 TAS mitochondrion
GO:0005759 TAS mitochondrial matrix
GO:0005947 IDA mitochondrial alpha-ketoglutarate dehydrogenase complex
GO:0008152 IEA metabolic process
GO:0009083 IDA branched-chain amino acid catabolic process
GO:0016624 IEA oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor
GO:0016831 TAS carboxy-lyase activity
GO:0034641 TAS cellular nitrogen compound metabolic process
GO:0044281 TAS small molecule metabolic process
GO:0046872 IEA metal ion binding
GO:0055114 IEA oxidation-reduction process

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000040555 bckdha branched chain keto acid dehydrogenase E1, alpha polypeptide protein_coding Danio_rerio
ENSMUSG00000060376 Bckdha branched chain ketoacid dehydrogenase E1, alpha polypeptide protein_coding Mus_musculus

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