Primary Information |
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| BoMiProt ID | Bomi3764 |
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| Protein Name | AFG3-like protein 2 |
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| Organism | Bos taurus |
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| Uniprot ID | Q2KJI7 |
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| Milk Fraction | Whey |
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| Ref Sequence ID | NP_001039676.1 |
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| Aminoacid Length | 805 |
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| Molecular Weight | 89388 |
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| FASTA Sequence |
Download |
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| Gene Name | AFG3L2 |
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| Gene ID | 515757 |
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| Protein Existence Status | reviewed |
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Secondary Information |
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| Protein Function | ATP-dependent protease ,essential for axonal and neuron development,mitochondrial ribosome assembly. |
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| Biochemical Properties | a subunit of the mitochondrial m-AAA protease |
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| PTMs | Proteolytic cleavage |
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Site(s) of PTM(s)
N-glycosylation,
O-glycosylation,
Phosphorylation
| na |
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| Predicted Disorder Regions | 75-123, 420-424, 754-805 |
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| DisProt Annotation | |
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| TM Helix Prediction | 2TMHs; (146-164),(254-272) |
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| Significance of PTMs | After entry into the mitochondria, the N-terminal transit peptide is cleaved to generate an intermediate form which undergoes autocatalytic proteolytic cleavage to generate active mature form. |
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| Additional Comments | Mutations in the AFG3L2 gene have been linked to spinocerebellar ataxia type 28 and spastic ataxia-neuropathy syndrome in humans. In knockout of Afg3l2,studies have revealed a decreased rate of mitochondrial protein synthesis associated with impaired mitochondrial ribosome assembly |
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| Bibliography | Almajan ER, Richter R, Paeger L, Martinelli P, Barth E, Decker T, Larsson NG, Kloppenburg P, Langer T, Rugarli EI. AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival. J Clin Invest. 2012 Nov;122(11):4048-58. doi: 10.1172/JCI64604. Epub 2012 Oct 8. PMID: 23041622; PMCID: PMC3484458. |
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