Search by BoMiProt ID - Bomi9563


Primary Information

BoMiProt ID Bomi9563
Protein Name Succinate dehydrogenase assembly factor 1, mitochondrial
Organism Bos taurus
Uniprot IdA8PU71
Milk FractionWhey,exosome
Ref Sequence Id NP_001103912.1
Aminoacid Length 118
Molecular Weight 13253
Fasta Sequence https://www.uniprot.org/uniprot/A8PU71.fasta
Gene Name SDHAF1
Gene Id 784051
Protein Existence Status reviewed

Secondary Information

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.
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.
Site(s) of PTM(s)

N-glycosylation, O-glycosylation,
Phosphorylation
NA
Predicted Disorder Regions 2 disordered segment; (1-42), (57-118)
DisProt Annotation
TM Helix Prediction No TM helices
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)
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.