Gene table of DBT : dihydrolipoamide branched chain transacylase E2

Gene-disease associations table

Disease IDDisease nameSource of annotation with DBTOMIM linkNumber of associated genesgenes
PS248600MAPLE SYRUP URINE DISEASEClinVar, OMIM, HUMSAVAR link to OMIM 5DBT, PPM1K, DLD, BCKDHB, BCKDHA

Download the gene annotation in CSV format

Annotation of the gene DBT

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Valine, leucine and isoleucine degradationhsa002807.09
Metabolic pathwayshsa011002.49
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Metabolism of amino acids and derivativesR-HSA-712915.4
MetabolismR-HSA-14307282.34
Branched-chain amino acid catabolismR-HSA-708958.89
Associated GO terms for Molecular function
GO termGO IDGO IC
ubiquitin protein ligase bindingGO:00316254.17
ubiquitin-like protein ligase bindingGO:00443894.15
enzyme bindingGO:00198992.27
catalytic activityGO:00038241.05
transferase activityGO:00167401.95
transferase activity, transferring acyl groupsGO:00167464.2
bindingGO:00054880.18
protein bindingGO:00055150.46
dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activityGO:00437549.74
transferase activity, transferring acyl groups other than amino-acyl groupsGO:00167474.37