DBT

Description		dihydrolipoamide branched chain transacylase E2
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GO Annotations	Cellular Component	Mitochondrion Mitochondrial Matrix Cytosol Microtubule Cytoskeleton Mitochondrial Nucleoid Branched-chain Alpha-ketoacid Dehydrogenase Complex
	Molecular Function	Protein Binding Transferase Activity Acyltransferase Activity Acyltransferase Activity, Transferring Groups Other Than Amino-acyl Groups Ubiquitin Protein Ligase Binding Dihydrolipoamide Branched Chain Acyltransferase Activity
	Biological Process	Branched-chain Amino Acid Catabolic Process Branched-chain Alpha-keto Acid Decarboxylation To Branched-chain Acyl-CoA
Pathways		Branched-chain amino acid catabolism RHOH GTPase cycle Mitochondrial protein degradation Protein lipoylation BCKDH synthesizes BCAA-CoA from KIC, KMVA, KIV Loss-of-function mutations in DBT cause MSUD2 Loss-of-function mutations in BCKDHA or BCKDHB cause MSUD Loss-of-function mutations in DLD cause MSUD3/DLDD Branched-chain ketoacid dehydrogenase kinase deficiency H139Hfs13* PPM1K causes a mild variant of MSUD
Drugs
Diseases		Maple syrup urine disease (MSUD)
GWAS		Lung cancer in ever smokers ( 28604730)
Novel Interacting Genes		1 novel interacting genes: ACADM
Interacting Genes		1 interacting genes: OGT
Entrez ID		1629
HPRD ID		02010
Ensembl ID		ENSG00000137992
Uniprot IDs		A0A7P0T9W1 P11182
PDB IDs		1K8M 1K8O 1ZWV 2COO 3RNM
Enriched GO Terms of Interacting Partners?		Regulation Of Gluconeogenesis Regulation Of Glucose Metabolic Process Mitochondrial Membrane Protein N-acetylglucosaminyltransferase Complex Negative Regulation Of Non-canonical Inflammasome Complex Assembly Regulation Of Small Molecule Metabolic Process Carnitine Metabolic Process, CoA-linked Medium-chain Fatty Acyl-CoA Dehydrogenase Activity Medium-chain Fatty Acid Catabolic Process Carnitine Biosynthetic Process Protein O-acetylglucosaminyltransferase Activity Positive Regulation Of Transcription From RNA Polymerase II Promoter By Glucose Non-canonical Inflammasome Complex Assembly Positive Regulation Of Transcription By Glucose Regulation Of Transcription From RNA Polymerase II Promoter By Glucose Response To Nutrient Levels Carbon Catabolite Regulation Of Transcription Medium-chain Fatty Acid Metabolic Process Regulation Of Transcription By Glucose Carnitine Metabolic Process Fatty Acid Beta-oxidation Using Acyl-CoA Dehydrogenase Acyl-CoA Dehydrogenase Activity NSL Complex Amino-acid Betaine Metabolic Process Glycogen Biosynthetic Process Regulation Of Neurotransmitter Receptor Localization To Postsynaptic Specialization Membrane Acetylglucosaminyltransferase Activity Polysaccharide Biosynthetic Process Oxidoreductase Activity, Acting On The CH-CH Group Of Donors Sin3-type Complex Histone Acetyltransferase Complex Negative Regulation Of Stem Cell Population Maintenance Regulation Of Protein Localization To Synapse Regulation Of Receptor Localization To Synapse Regulation Of Necroptotic Process Regulation Of Rac Protein Signal Transduction Cardiac Muscle Cell Differentiation Phosphatidylinositol-3,4,5-trisphosphate Binding Cellular Response To Nutrient Regulation Of Programmed Necrotic Cell Death Response To Cold Pyroptotic Inflammatory Response Cardiocyte Differentiation Negative Regulation Of Translational Initiation Negative Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process Positive Regulation Of Translational Initiation Positive Regulation Of Stem Cell Population Maintenance Mitochondrion Glycogen Metabolic Process Energy Reserve Metabolic Process
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