DLD

Description		dihydrolipoamide dehydrogenase
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GO Annotations	Cellular Component	Acrosomal Vesicle Nucleus Cytoplasm Mitochondrion Mitochondrial Matrix Cilium Cytoplasmic Vesicle Motile Cilium Cell Projection Acrosomal Matrix Oxoglutarate Dehydrogenase Complex Pyruvate Dehydrogenase Complex Branched-chain Alpha-ketoacid Dehydrogenase Complex Oxoadipate Dehydrogenase Complex Acetyltransferase Complex
	Molecular Function	Dihydrolipoyl Dehydrogenase (NADH) Activity Protein Binding Oxidoreductase Activity Oxidoreductase Activity, Acting On A Sulfur Group Of Donors, NAD(P) As Acceptor Flavin Adenine Dinucleotide Binding
	Biological Process	Pyruvate Decarboxylation To Acetyl-CoA Pyruvate Metabolic Process 2-oxoglutarate Metabolic Process Mitochondrial Electron Transport, NADH To Ubiquinone Proteolysis Gastrulation Branched-chain Amino Acid Catabolic Process Regulation Of Membrane Potential Sperm Capacitation 2-oxoglutarate Decarboxylation To Succinyl-CoA Branched-chain Alpha-keto Acid Decarboxylation To Branched-chain Acyl-CoA
Pathways		Regulation of pyruvate dehydrogenase (PDH) complex Signaling by Retinoic Acid Glycine degradation Branched-chain amino acid catabolism Mitochondrial protein degradation OGDH complex synthesizes succinyl-CoA from 2-OG OADH complex synthesizes glutaryl-CoA from 2-OA BCKDH synthesizes BCAA-CoA from KIC, KMVA, KIV PDH complex synthesizes acetyl-CoA from PYR Loss-of-function mutations in DBT cause MSUD2 Loss-of-function mutations in DLD cause MSUD3/DLDD Branched-chain ketoacid dehydrogenase kinase deficiency H139Hfs13* PPM1K causes a mild variant of MSUD
Drugs		NADH Flavin adenine dinucleotide
Diseases		Pyruvate dehydrogenase complex deficiency; X-linked Leigh syndrome Maple syrup urine disease (MSUD)
GWAS		Inflammatory bowel disease ( 28067908) Ulcerative colitis ( 19122664 20228799 23128233 28067908) Waist-to-hip ratio adjusted for BMI ( 26426971) Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) ( 26426971)
Novel Interacting Genes		5 novel interacting genes: ITGB1BP1 OGDH OGT PDHX SLC2A4
Interacting Genes		5 interacting genes: ITGB1BP1 OGDH OGT PDHX SLC2A4
Entrez ID		1738
HPRD ID		02006
Ensembl ID		ENSG00000091140
Uniprot IDs		A0A024R713 E9PEX6 P09622
PDB IDs		1ZMC 1ZMD 1ZY8 2F5Z 3RNM 5J5Z 5NHG 6HG8 6I4P 6I4Q 6I4R 6I4S 6I4T 6I4U 6I4Z 7PSC 7ZYT
Enriched GO Terms of Interacting Partners?		Oxidoreductase Activity, Acting On The Aldehyde Or Oxo Group Of Donors Pyruvate Metabolic Process Acyl-CoA Metabolic Process Amylopectin Biosynthetic Process D-glucose Uniporter Activity Regulation Of Synaptic Vesicle Budding From Presynaptic Endocytic Zone Membrane Protein N-acetylglucosaminyltransferase Complex Negative Regulation Of Non-canonical Inflammasome Complex Assembly Olfactory Bulb Mitral Cell Layer Development Positive Regulation Of Brain-derived Neurotrophic Factor Receptor Signaling Pathway Dihydrolipoyllysine-residue Acetyltransferase Activity Mitochondrial Membrane Thiamine Pyrophosphate Binding Carbohydrate Derivative Metabolic Process Pyramidal Neuron Development Oxidoreductase Activity, Acting On The Aldehyde Or Oxo Group Of Donors, Disulfide As Acceptor Tangential Migration From The Subventricular Zone To The Olfactory Bulb Sulfur Compound Metabolic Process Oxoglutarate Dehydrogenase Complex Oxoglutarate Dehydrogenase (succinyl-transferring) Activity Cerebellar Cortex Development Insulin-responsive Compartment Carbohydrate Homeostasis Dehydroascorbic Acid Transport Glucose Import In Response To Insulin Stimulus Glucose Homeostasis Vascular Process In Circulatory System Response To Insulin White Fat Cell Proliferation Fat Cell Proliferation Pyruvate Decarboxylation To Acetyl-CoA Pyruvate Dehydrogenase Complex Positive Regulation Of Transcription From RNA Polymerase II Promoter By Glucose Non-canonical Inflammasome Complex Assembly Regulation Of Cell Junction Assembly Positive Regulation Of Transcription By Glucose Carbon Catabolite Regulation Of Transcription Regulation Of Transcription From RNA Polymerase II Promoter By Glucose Protein O-acetylglucosaminyltransferase Activity Activation Of Protein Kinase B Activity Negative Regulation Of Cell Adhesion Involved In Substrate-bound Cell Migration Negative Regulation Of Protein Targeting To Membrane Blood Vessel Endothelial Cell Proliferation Involved In Sprouting Angiogenesis Regulation Of Transcription By Glucose Succinyl-CoA Metabolic Process D-glucose Transmembrane Transporter Activity Thalamus Development Response To Peptide Hormone NSL Complex Integrin Activation
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