Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
1.8.1.4
Oxidoreductases;
Acting on a sulfur group of donors;
With NAD+ or NADP+ as acceptor;
dihydrolipoyl dehydrogenase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 1ZMC | 2.53 | Crystal Structure of Human dihydrolipoamide dehydrogenase complexed to NAD+ |
| 1ZMD | 2.08 | Crystal Structure of Human dihydrolipoamide dehydrogenase complexed to NADH |
| 1ZY8 | 2.59 | The crystal structure of dihydrolipoamide dehydrogenase and dihydrolipoamide dehydrogenase-binding protein (didomain) subcomplex of human pyruvate dehydrogenase complex. |
| 2F5Z | 2.18 | Crystal Structure of Human Dihydrolipoamide Dehydrogenase (E3) Complexed to the E3-Binding Domain of Human E3-Binding Protein |
| 3RNM | 2.4 | The crystal structure of the subunit binding of human dihydrolipoamide transacylase (E2b) bound to human dihydrolipoamide dehydrogenase (E3) |
| 5J5Z | 1.84 | Crystal structure of the D444V disease-causing mutant of the human dihydrolipoamide dehydrogenase |
| 5NHG | 2.27 | Crystal structure of the human dihydrolipoamide dehydrogenase |
| 6HG8 | 1.76 | Crystal structure of the R460G disease-causing mutant of the human dihydrolipoamide dehydrogenase. |
| 6I4P | 1.6 | Crystal structure of the disease-causing G194C mutant of the human dihydrolipoamide dehydrogenase |
| 6I4Q | 1.75 | Crystal structure of the human dihydrolipoamide dehydrogenase at 1.75 Angstrom resolution |
| 6I4R | 1.439 | Crystal structure of the disease-causing R460G mutant of the human dihydrolipoamide dehydrogenase at 1.44 Angstrom resolution |
| 6I4S | 1.75 | Crystal structure of the disease-causing R447G mutant of the human dihydrolipoamide dehydrogenase |
| 6I4T | 1.823 | Crystal structure of the disease-causing I445M mutant of the human dihydrolipoamide dehydrogenase |
| 6I4U | 1.84 | Crystal structure of the disease-causing G426E mutant of the human dihydrolipoamide dehydrogenase |
| 6I4Z | 2.342 | Crystal structure of the disease-causing P453L mutant of the human dihydrolipoamide dehydrogenase |
| GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006086 | acetyl-CoA biosynthetic process from pyruvate |
| Biological Process | GO:0009083 | branched-chain amino acid catabolic process |
| Biological Process | GO:0007369 | gastrulation |
| Biological Process | GO:0106077 | histone succinylation |
| Biological Process | GO:0006120 | mitochondrial electron transport, NADH to ubiquinone |
| Biological Process | GO:0006508 | proteolysis |
| Biological Process | GO:0042391 | regulation of membrane potential |
| Biological Process | GO:0048240 | sperm capacitation |
| Molecular Function | GO:0004148 | dihydrolipoyl dehydrogenase activity |
| Molecular Function | GO:0050660 | flavin adenine dinucleotide binding |
| Cellular Component | GO:1902493 | acetyltransferase complex |
| Cellular Component | GO:0043159 | acrosomal matrix |
| Cellular Component | GO:0005947 | mitochondrial alpha-ketoglutarate dehydrogenase complex |
| Cellular Component | GO:0005759 | mitochondrial matrix |
| Cellular Component | GO:0005967 | mitochondrial pyruvate dehydrogenase complex |
| Cellular Component | GO:0005739 | mitochondrion |
| Cellular Component | GO:0031514 | motile cilium |
| Cellular Component | GO:0005634 | nucleus |
| Cellular Component | GO:0045252 | oxoglutarate dehydrogenase complex |
| Cellular Component | GO:0045254 | pyruvate dehydrogenase complex |
| InterPro
|
InterPro name |
|---|---|
| IPR001100 | Pyridine nucleotide-disulphide oxidoreductase, class I |
| IPR004099 | Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain |
| IPR006258 | Dihydrolipoamide dehydrogenase |
| IPR012999 | Pyridine nucleotide-disulphide oxidoreductase, class I, active site |
| IPR016156 | FAD/NAD-linked reductase, dimerisation domain superfamily |
| IPR023753 | FAD/NAD(P)-binding domain |
| IPR036188 | FAD/NAD(P)-binding domain superfamily |
| Pfam
|
Pfam name |
|---|---|
| PF02852 | Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain |
| PF07992 | Pyridine nucleotide-disulphide oxidoreductase |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-204174 | Regulation of pyruvate dehydrogenase (PDH) complex | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-389661 | Glyoxylate metabolism and glycine degradation | Internal node | R-HSA-1430728 | Metabolism |
| R-HSA-5362517 | Signaling by Retinoic Acid | Internal node | R-HSA-162582 | Signal Transduction |
| R-HSA-6783984 | Glycine degradation | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-70268 | Pyruvate metabolism | Internal node | R-HSA-1430728 | Metabolism |
| R-HSA-70895 | Branched-chain amino acid catabolism | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-71064 | Lysine catabolism | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-71403 | Citric acid cycle (TCA cycle) | Leaf | R-HSA-1430728 | Metabolism |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cell projection, cilium, flagellum | ECO:0000250 | |
| Cytoplasmic vesicle, secretory vesicle, acrosome | ECO:0000269 | PubMed:15888450 |
| Mitochondrion matrix | ECO:0000305 | PubMed:29211711 |
| Mitochondrion matrix | ECO:0000305 | PubMed:3693355 |
| Nucleus | ECO:0000269 | PubMed:29211711 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000252 | Microcephaly |
| HP:0000708 | Atypical behavior |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001254 | Lethargy |
| HP:0001257 | Spasticity |
| HP:0001263 | Global developmental delay |
| HP:0001290 | Generalized hypotonia |
| HP:0001298 | Encephalopathy |
| HP:0001332 | Dystonia |
| HP:0001399 | Hepatic failure |
| HP:0001410 | Decreased liver function |
| HP:0001508 | Failure to thrive |
| HP:0001638 | Cardiomyopathy |
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0001942 | Metabolic acidosis |
| HP:0001943 | Hypoglycemia |
| HP:0001987 | Hyperammonemia |
| HP:0001993 | Ketoacidosis |
| HP:0002013 | Vomiting |
| HP:0002151 | Increased serum lactate |
| HP:0002240 | Hepatomegaly |
| HP:0002480 | Hepatic encephalopathy |
| HP:0002910 | Elevated hepatic transaminase |
| HP:0003128 | Lactic acidosis |
| HP:0003234 | Decreased plasma carnitine |
| HP:0003394 | Muscle spasm |
| HP:0003542 | Increased serum pyruvate |
| HP:0003593 | Infantile onset |
| HP:0003819 | Death in childhood |
| HP:0007663 | Reduced visual acuity |
| HP:0008344 | Elevated circulating branched chain amino acid concentration |
| HP:0010913 | Hyperisoleucinemia |
| HP:0011968 | Feeding difficulties |
| HP:0012402 | Increased urine alpha-ketoglutarate concentration |
| HP:0012758 | Neurodevelopmental delay |
| HP:0030872 | Abnormal cardiac ventricular function |
| HP:0100724 | Hypercoagulability |
| HP:0500187 | Increased CSF valine concentration |
| HP:0500191 | Increased CSF leucine concentration |
| HP:0500193 | Increased CSF isoleucine concentration |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| pyruvate dehydrogenase e3 deficiency | MONDO:0009529 | E74 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:246900 | Orphanet:2394 |