Krebs cycle disorders (Homo sapiens)
From WikiPathways
Description
This pathway shows an simplified version of the Krebs cycle (for more details see [1] ), with 4 genetic diseases related to it.
For succinyl-CoA synthetase deficiencies, relevant metabolic markers are depicted in light green. Patients with a mutation in the SUCLG1 might present a severe (fatal) form of mitochondrial encephalomyopathy.
This pathway was inspired by Chapter 20 of the book of Blau (ISBN 3642403360 (978-3642403361)).Quality Tags
Ontology Terms
Bibliography
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- Kyle S McCommis, Brian N Finck; ''Mitochondrial pyruvate transport: a historical perspective and future research directions ''; Biochem J., 2015 PubMed Europe PMC Scholia
- Kowluru A, Tannous M, Chen HQ; ''Localization and characterization of the mitochondrial isoform of the nucleoside diphosphate kinase in the pancreatic beta cell: evidence for its complexation with mitochondrial succinyl-CoA synthetase.''; Arch Biochem Biophys, 2002 PubMed Europe PMC Scholia
- Kavanaugh-Black A, Connolly DM, Chugani SA, Chakrabarty AM; ''Characterization of nucleoside-diphosphate kinase from Pseudomonas aeruginosa: complex formation with succinyl-CoA synthetase.''; Proc Natl Acad Sci U S A, 1994 PubMed Europe PMC Scholia
- Lawrence R Gray, Sean C Tompkins, Eric B Taylor; ''Disorders of the Pyruvate Metabolism and the Krebs Cycle''; Cell Mol Life Sci ., 2014 PubMed Europe PMC Scholia
- Kadrmas EF, Ray PD, Lambeth DO; ''Apparent ATP-linked succinate thiokinase activity and its relation to nucleoside diphosphate kinase in mitochondrial matrix preparations from rabbit.''; Biochim Biophys Acta, 1991 PubMed Europe PMC Scholia
- Nenad Blau, Marinus Duran, K Michael Gibson, Carlo Dionisi-Vici.; ''Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases''; Springer-Verlag Berlin Heidelberg, 2014
History
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External references
DataNodes
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Name | Type | Database reference | Comment |
---|---|---|---|
(S)-malate | Metabolite | Q27104150 (Wikidata) | Not in original drawing, adapted from https://www.wikipathways.org/index.php/Pathway:WP78 |
2-KGD complex | Protein | Q1B4V6 (Uniprot-TrEMBL) |
|
3-hydroxypropionate | Metabolite | Q27101949 (Wikidata) | |
ADP-forming (A-SCS) | Protein | 6.2.1.5 (Enzyme Nomenclature) |
|
ADP | Metabolite | CHEBI:16761 (ChEBI) | |
ALT | Protein | P24298 (Uniprot-TrEMBL) | AKA alanine aminotransferase |
ATP | Metabolite | CHEBI:15422 (ChEBI) | |
Acetyl-CoA | Metabolite | Q715317 (Wikidata) | |
Alanine | Metabolite | 16977 (ChEBI) | |
Alpha-ketoglutarate | Metabolite | CHEBI:16810 (ChEBI) | |
Citrate | Metabolite | CHEBI:133748 (ChEBI) | |
E1-subunit | Protein | Q96HY7 (Uniprot-TrEMBL) | |
E2-subunit | Protein | P36957 (Uniprot-TrEMBL) | |
E3-subunit | Protein | O00330 (Uniprot-TrEMBL) | |
FH | GeneProduct | 2271 (Entrez Gene) | Fumarate hydratase |
Fumarate | Metabolite | CHEBI:18012 (ChEBI) | |
GDP-forming (G-SCS) | Protein | 6.2.1.4 (Enzyme Nomenclature) |
|
GDP | Metabolite | CHEBI:17552 (ChEBI) | |
GTP | Metabolite | CHEBI:15996 (ChEBI) | |
LDH | Protein | 1.1.1.27 (Enzyme Nomenclature) | AKA LDH lactate dehydrogenase |
LDH1 | Protein | 1.1.1.27 (Enzyme Nomenclature) | AKA LDH-1 lactate dehydrogenase 1, 4H; expressed in heart, red blood cells (RBC), brain) |
LDH2 | Protein | 1.1.1.27 (Enzyme Nomenclature) | AKA LDH-2 lactate dehydrogenase 2 (3H1M); expressed in reticuloendohelial system |
LDH3 | Protein | 1.1.1.27 (Enzyme Nomenclature) | AKA LDH-3 lactate dehydrogenase 3 (2H2M); expressed in lungs |
LDH4 | Protein | 1.1.1.27 (Enzyme Nomenclature) | AKA LDH-4 lactate dehydrogenase 4 (1H3M); expressed in kidneys, placenta, pancreas. |
LDH5 | Protein | 1.1.1.27 (Enzyme Nomenclature) | AKA LDH-5 lactate dehydrogenase 5 (4M); expressed in liver, striated muscle, brain. |
LDHA | Protein | P00338 (Uniprot-TrEMBL) | |
LDHB | Protein | P07195 (Uniprot-TrEMBL) | |
LDHC | Protein | P07864 (Uniprot-TrEMBL) | AKA lactate dehydrogenase C; expressed in testes. |
Lactate | Metabolite | CHEBI:24996 (ChEBI) | |
MPC | Protein | Q9Y5U8 (Uniprot-TrEMBL) | AKA Mitochondrial pyruvate transport |
Methylcitrate | Metabolite | Q27104155 (Wikidata) | a.k.a. 2-methylcitric acid |
Methylmalonic acid | Metabolite | CHEBI:30860 (ChEBI) | |
Methylmalonyl carnitine ester (C4DC) | Metabolite | HMDB0062785 (HMDB) | |
Methylmalonyl-CoA | Metabolite | HMDB0001269 (HMDB) | |
NDPK | Protein | 2.7.4.6 (Enzyme Nomenclature) | Nucleoside diphosphate kinase |
Oxaloacetate | Metabolite | Q408658 (Wikidata) | Not in original drawing, adapted from https://www.wikipathways.org/index.php/Pathway:WP78 |
PDH | Protein | 1.2.4.1 (Enzyme Nomenclature) | AKA pyruvate dehydrogenase |
PEPCK | Protein | 5106 (Entrez Gene) | AKA phosphoenolpyruvate carboxykinase |
Propionyl | Metabolite | CHEBI:26294 (ChEBI) | |
Propionylcarnitine (C3) | Metabolite | Q27103933 (Wikidata) | a.k.a. 2-methylcitric acid |
Pyruvate | Metabolite | CHEBI:15361 (ChEBI) | |
SUCLA2 | Protein | Q9P2R7 (Uniprot-TrEMBL) | |
SUCLG1 | Protein | P53597 (Uniprot-TrEMBL) | |
SUCLG2 | Protein | Q96I99 (Uniprot-TrEMBL) | |
Succinate | Metabolite | CHEBI:30031 (ChEBI) | |
Succinyl carnitine ester (C4DC) | Metabolite | Q27140249 (Wikidata) | |
Succinyl coenzyme A | Metabolite | CHEBI:15380 (ChEBI) | |
mtDNA synthesis | Pathway | WP111 (WikiPathways) |
Annotated Interactions
No annotated interactions