SDHA
Summary: This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| succinate dehydrogenase complex flavoprotein subunit A | MIM:600857 | Ensembl:ENSG00000073578 | HGNC:HGNC:10680 | PA35605 | 5p15.33 |
Gene Categories:
CLINICALLY ACTIONABLEGO terms in SDHA
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0000104 | succinate dehydrogenase activity |
| MF | IMP | GO:0000104 | succinate dehydrogenase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0008177 | succinate dehydrogenase (ubiquinone) activity |
| MF | IMP | GO:0008177 | succinate dehydrogenase (ubiquinone) activity |
| MF | IBA | GO:0009055 | electron transfer activity |
| MF | IBA | GO:0016491 | oxidoreductase activity |
| MF | IEA | GO:0050660 | flavin adenine dinucleotide binding |
| CC | IDA | GO:0005730 | nucleolus |
| CC | IDA | GO:0005739 | mitochondrion |
| CC | ISS | GO:0005743 | mitochondrial inner membrane |
| CC | TAS | GO:0005743 | mitochondrial inner membrane |
| CC | IBA | GO:0005749 | mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) |
| CC | ISS | GO:0005749 | mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) |
| CC | TAS | GO:0005749 | mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) |
| CC | IEA | GO:0043209 | myelin sheath |
| CC | IBA | GO:0045282 | plasma membrane succinate dehydrogenase complex |
| BP | IBA | GO:0006099 | tricarboxylic acid cycle |
| BP | IEA | GO:0006099 | tricarboxylic acid cycle |
| BP | TAS | GO:0006099 | tricarboxylic acid cycle |
| BP | IDA | GO:0006105 | succinate metabolic process |
| BP | IBA | GO:0006121 | mitochondrial electron transport, succinate to ubiquinone |
| BP | IMP | GO:0007399 | nervous system development |
| BP | IBA | GO:0009061 | anaerobic respiration |
| BP | IDA | GO:0022904 | respiratory electron transport chain |
| BP | IDA | GO:0055114 | oxidation-reduction process |
Gene expression in normal tissue: SDHA
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SDHA
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1428517 | The citric acid (TCA) cycle and respiratory electron transport |
| reactome | R-HSA-1428517 | The citric acid (TCA) cycle and respiratory electron transport |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-163200 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
| reactome | R-HSA-611105 | Respiratory electron transport |
| reactome | R-HSA-71403 | Citric acid cycle (TCA cycle) |
| reactome | R-HSA-71406 | Pyruvate metabolism and Citric Acid (TCA) cycle |
| wikipathways | WP111 | Electron Transport Chain |
| wikipathways | WP2453 | TCA Cycle and Deficiency of Pyruvate Dehydrogenase complex (PDHc) |
| wikipathways | WP3925 | Amino Acid metabolism |
| wikipathways | WP3961 | fig-met-1-last-solution |
| wikipathways | WP78 | TCA Cycle |
| smpdb | SMP00057 | Citric Acid Cycle |
| smpdb | SMP00355 | Mitochondrial Electron Transport Chain |
| smpdb | SMP00546 | Congenital lactic acidosis |
| smpdb | SMP00547 | Fumarase deficiency |
| smpdb | SMP00548 | Mitochondrial complex II deficiency |
| smpdb | SMP00549 | 2-ketoglutarate dehydrogenase complex deficiency |
| smpdb | SMP00550 | Pyruvate dehydrogenase deficiency (E3) |
| smpdb | SMP00551 | Pyruvate dehydrogenase deficiency (E2) |
| smpdb | SMP00654 | Warburg Effect |
| smpdb | SMP02291 | The oncogenic action of 2-hydroxyglutarate |
| smpdb | SMP02292 | The oncogenic action of Succinate |
| smpdb | SMP02295 | The oncogenic action of Fumarate |
| smpdb | SMP02298 | Glutaminolysis and Cancer |
| smpdb | SMP02358 | The oncogenic action of L-2-hydroxyglutarate in Hydroxygluaricaciduria |
| smpdb | SMP02359 | The oncogenic action of D-2-hydroxyglutarate in Hydroxygluaricaciduria |
| humancyc | PWY66-398 | TCA cycle |
| humancyc | PWY66-407 | superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle |
| kegg | hsa00020 | Citrate cycle (TCA cycle) - Homo sapiens (human) |
| kegg | hsa00190 | Oxidative phosphorylation - Homo sapiens (human) |
| kegg | hsa04714 | Thermogenesis - Homo sapiens (human) |
| kegg | hsa04932 | Non-alcoholic fatty liver disease (NAFLD) - Homo sapiens (human) |
| kegg | hsa05010 | Alzheimer,s disease - Homo sapiens (human) |
| kegg | hsa05012 | Parkinson,s disease - Homo sapiens (human) |
| kegg | hsa05016 | Huntington,s disease - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SDHA
CLASSFICATION
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