Primary Information |
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BoMiProt ID | Bomi9563 |
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Protein Name | Succinate dehydrogenase assembly factor 1, mitochondrial |
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Organism | Bos taurus |
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Uniprot ID | A8PU71 |
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Milk Fraction | Whey,exosome |
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Ref Sequence ID | NP_001103912.1 |
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Aminoacid Length | 118 |
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Molecular Weight | 13253 |
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FASTA Sequence |
Download |
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Gene Name | SDHAF1 |
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Gene ID | 784051 |
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Protein Existence Status | reviewed |
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Secondary Information |
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Protein Function | functional and structural integrity of succinate dehydrogenase (SDH) complex which plays an imp role in both tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain.oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol. |
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Biochemical Properties | SDH is a heterotetramer protein complex consisting of four subunits encoded by nuclear genes.SDHA andSDHB form the catalytic domain, andSDHC andSDHD anchor the complex to the inner mitochondrial membrane. |
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Site(s) of PTM(s)
N-glycosylation,
O-glycosylation,
Phosphorylation
| NA |
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Predicted Disorder Regions | 2 disordered segment; (1-42), (57-118) |
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DisProt Annotation | |
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TM Helix Prediction | No TM helices |
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Additional Comments | Defects in theSDH genes result in succinate accumulation, which is a competitive inhibitor of the 2-oxoglutarate-dependent dioxygenases (e.g., HIF prolyl hydroxylases and histone or DNA demethylases), which leads to the stabilization of HIF isoforms and the activation of hypoxic signaling and to epigenetic modifications.Mutations in this gene are associated with SDH-defective infantile leukoencephalopathy (mitochondrial complex II deficiency) |
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Bibliography | Ghezzi D, Goffrini P, Uziel G, Horvath R, Klopstock T, Lochmüller H, D'Adamo P, Gasparini P, Strom TM, Prokisch H, Invernizzi F, Ferrero I, Zeviani M. SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. Nat Genet. 2009 Jun;41(6):654-6. doi: 10.1038/ng.378. Epub 2009 May 24. PMID: 19465911. |