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, beta polypeptide
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000083123 BCKDHB 9606 + 6:80106647-80346270 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000320393 BCKDHB-004 80106647-80346270 protein_coding
  ENST00000356489 BCKDHB-005 80106647-80346254 protein_coding
  ENST00000369760 BCKDHB-002 80106647-80169873 protein_coding
  ENST00000468520 BCKDHB-001 80203102-80273190 processed_transcript
  ENST00000486968 BCKDHB-003 80127269-80135887 processed_transcript
  ENST00000491328 BCKDHB-006 80343571-80346254 retained_intron
  ENST00000545529 BCKDHB-201 80106666-80346270 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000320393ENST00000356489ENST00000369760ENST00000545529
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000320393 1.280±0.00 1.264±0.00 2.203±0.00 3.921±1.30 2.306±0.56 2.158±0.31 1.671±1.25 5.186±1.47 3.888±0.62 0.901±0.29 0.540±0.03 2.428±0.08 0.562±0.27 1.614±0.00
ENST00000356489 1.605±0.00 0.942±0.00 2.354±0.00 2.261±0.00 3.324±0.23 3.761±0.00 3.089±1.63 5.722±3.14 4.818±2.29 0.677±0.00 1.921±1.01 2.229±1.24 1.371±0.86 2.810±1.38
ENST00000369760 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 3.003±0.00 4.521±0.04 4.797±0.00 13.815±0.00
ENST00000545529 N/A N/A N/A N/A 0.796±0.00 N/A N/A N/A N/A N/A N/A N/A N/A 0.481±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0006G6 CIL_0006G6_0001 CGP 6:80003887-80346270

Gene Ontology
GO IDEvidence TypeGO Description
GO:0003824 IEA catalytic activity
GO:0003826 IEA alpha-ketoacid dehydrogenase activity
GO:0003863 IEA 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity
GO:0005515 IPI protein binding
GO:0005739 IMP mitochondrion
GO:0005759 TAS mitochondrial matrix
GO:0005947 IMP mitochondrial alpha-ketoglutarate dehydrogenase complex
GO:0007584 IEA response to nutrient
GO:0008152 IEA metabolic process
GO:0009083 IMP branched-chain amino acid catabolic process
GO:0016831 TAS carboxy-lyase activity
GO:0032403 IEA protein complex binding
GO:0034641 TAS cellular nitrogen compound metabolic process
GO:0044281 TAS small molecule metabolic process
GO:0051384 IEA response to glucocorticoid
GO:0051591 IEA response to cAMP
GO:0055114 IEA oxidation-reduction process

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000014676 bckdhb branched chain ketoacid dehydrogenase E1, beta polypeptide protein_coding Danio_rerio
ENSDARG00000086611 BCKDHB (2 of 2) branched chain keto acid dehydrogenase E1, beta polypeptide protein_coding Danio_rerio
ENSMUSG00000032263 Bckdhb branched chain ketoacid dehydrogenase E1, beta polypeptide protein_coding Mus_musculus

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