7ZYT
Crystal structure of the I318T pathogenic variant of the human dihydrolipoamide dehydrogenase
Functional Information from GO Data
| Chain | GOid | namespace | contents |
| A | 0001669 | cellular_component | acrosomal vesicle |
| A | 0004148 | molecular_function | dihydrolipoyl dehydrogenase (NADH) activity |
| A | 0005515 | molecular_function | protein binding |
| A | 0005634 | cellular_component | nucleus |
| A | 0005654 | cellular_component | nucleoplasm |
| A | 0005739 | cellular_component | mitochondrion |
| A | 0005759 | cellular_component | mitochondrial matrix |
| A | 0006086 | biological_process | pyruvate decarboxylation to acetyl-CoA |
| A | 0006099 | biological_process | tricarboxylic acid cycle |
| A | 0006103 | biological_process | 2-oxoglutarate metabolic process |
| A | 0009083 | biological_process | branched-chain amino acid catabolic process |
| A | 0016491 | molecular_function | oxidoreductase activity |
| A | 0016668 | molecular_function | oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor |
| A | 0019477 | biological_process | L-lysine catabolic process |
| A | 0031514 | cellular_component | motile cilium |
| A | 0045252 | cellular_component | oxoglutarate dehydrogenase complex |
| A | 0045254 | cellular_component | pyruvate dehydrogenase complex |
| A | 0050660 | molecular_function | flavin adenine dinucleotide binding |
| A | 0120551 | biological_process | 2-oxoglutarate decarboxylation to succinyl-CoA |
| A | 0120552 | biological_process | branched-chain alpha-keto acid decarboxylation to branched-chain acyl-CoA |
| A | 0160157 | cellular_component | branched-chain alpha-ketoacid dehydrogenase complex |
| A | 0160167 | cellular_component | oxoadipate dehydrogenase complex |
| B | 0001669 | cellular_component | acrosomal vesicle |
| B | 0004148 | molecular_function | dihydrolipoyl dehydrogenase (NADH) activity |
| B | 0005515 | molecular_function | protein binding |
| B | 0005634 | cellular_component | nucleus |
| B | 0005654 | cellular_component | nucleoplasm |
| B | 0005739 | cellular_component | mitochondrion |
| B | 0005759 | cellular_component | mitochondrial matrix |
| B | 0006086 | biological_process | pyruvate decarboxylation to acetyl-CoA |
| B | 0006099 | biological_process | tricarboxylic acid cycle |
| B | 0006103 | biological_process | 2-oxoglutarate metabolic process |
| B | 0009083 | biological_process | branched-chain amino acid catabolic process |
| B | 0016491 | molecular_function | oxidoreductase activity |
| B | 0016668 | molecular_function | oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor |
| B | 0019477 | biological_process | L-lysine catabolic process |
| B | 0031514 | cellular_component | motile cilium |
| B | 0045252 | cellular_component | oxoglutarate dehydrogenase complex |
| B | 0045254 | cellular_component | pyruvate dehydrogenase complex |
| B | 0050660 | molecular_function | flavin adenine dinucleotide binding |
| B | 0120551 | biological_process | 2-oxoglutarate decarboxylation to succinyl-CoA |
| B | 0120552 | biological_process | branched-chain alpha-keto acid decarboxylation to branched-chain acyl-CoA |
| B | 0160157 | cellular_component | branched-chain alpha-ketoacid dehydrogenase complex |
| B | 0160167 | cellular_component | oxoadipate dehydrogenase complex |
Functional Information from PROSITE/UniProt
| site_id | PS00076 |
| Number of Residues | 11 |
| Details | PYRIDINE_REDOX_1 Pyridine nucleotide-disulphide oxidoreductases class-I active site. GGtCLnvGCIP |
| Chain | Residue | Details |
| A | GLY42-PRO52 |
Functional Information from SwissProt/UniProt
| site_id | SWS_FT_FI1 |
| Number of Residues | 2 |
| Details | Active site: {"description":"Proton acceptor","evidences":[{"source":"UniProtKB","id":"P09624","evidenceCode":"ECO:0000250"}]} |
| Chain | Residue | Details |
| site_id | SWS_FT_FI2 |
| Number of Residues | 54 |
| Details | Binding site: {"evidences":[{"source":"PubMed","id":"15946682","evidenceCode":"ECO:0000269"}]} |
| Chain | Residue | Details |
| site_id | SWS_FT_FI3 |
| Number of Residues | 4 |
| Details | Site: {"description":"Important for interaction with PDHX and activity of multienzyme pyruvate dehydrogenase complex","evidences":[{"source":"PubMed","id":"20385101","evidenceCode":"ECO:0000269"}]} |
| Chain | Residue | Details |
| site_id | SWS_FT_FI4 |
| Number of Residues | 14 |
| Details | Modified residue: {"description":"N6-succinyllysine; alternate","evidences":[{"source":"UniProtKB","id":"O08749","evidenceCode":"ECO:0000250"}]} |
| Chain | Residue | Details |
| site_id | SWS_FT_FI5 |
| Number of Residues | 10 |
| Details | Modified residue: {"description":"N6-succinyllysine","evidences":[{"source":"UniProtKB","id":"O08749","evidenceCode":"ECO:0000250"}]} |
| Chain | Residue | Details |
| site_id | SWS_FT_FI6 |
| Number of Residues | 2 |
| Details | Modified residue: {"description":"Phosphoserine","evidences":[{"source":"UniProtKB","id":"O08749","evidenceCode":"ECO:0000250"}]} |
| Chain | Residue | Details |
| site_id | SWS_FT_FI7 |
| Number of Residues | 2 |
| Details | Modified residue: {"description":"Phosphoserine","evidences":[{"source":"UniProtKB","id":"Q6P6R2","evidenceCode":"ECO:0000250"}]} |
| Chain | Residue | Details |
| site_id | SWS_FT_FI8 |
| Number of Residues | 4 |
| Details | Modified residue: {"description":"N6-acetyllysine","evidences":[{"source":"UniProtKB","id":"O08749","evidenceCode":"ECO:0000250"}]} |
| Chain | Residue | Details |
| site_id | SWS_FT_FI9 |
| Number of Residues | 2 |
| Details | Modified residue: {"description":"N6-acetyllysine","evidences":[{"source":"PubMed","id":"19608861","evidenceCode":"ECO:0007744"}]} |
| Chain | Residue | Details |
| site_id | SWS_FT_FI10 |
| Number of Residues | 2 |
| Details | Modified residue: {"description":"Phosphoserine","evidences":[{"source":"PubMed","id":"23186163","evidenceCode":"ECO:0007744"}]} |
| Chain | Residue | Details |
