Primary Information |
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BoMiProt ID | Bomi9609 |
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Protein Name | Survival motor neuron protein |
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Organism | Bos taurus |
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Uniprot ID | O18870 |
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Milk Fraction | Whey |
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Ref Sequence ID | NP_783632.1 |
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Aminoacid Length | 287 |
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Molecular Weight | 31327 |
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FASTA Sequence |
Download |
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Gene Name | SMN1/SMN |
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Gene ID | 281492 |
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Protein Existence Status | reviewed |
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Secondary Information |
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Protein Function | catalyzes the assembly of small nuclear ribonucleoproteins (snRNPs).Functioning of motor neurons. |
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PTMs | Isopeptide bond formation, Phosphorylation, Ubl conjugation |
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Site(s) of PTM(s)
N-glycosylation,
O-glycosylation,
Phosphorylation
| >sp|O18870|SMN_BOVIN Survival motor neuron protein OS=Bos taurus OX=9913 GN=SMN1 PE=2 SV=2
MGGGGGGFPEPEDSVLFRRGT*21GES*24DDS*27DVWDDTALIKAYDKAVASFKHALKNGDISEASE
KPKGT*65PKRKSAKNKSQRKNT*80TSPSKQWKVGDNCCAIWSEDGCIYPATIASIDFKRETCVV
VYTGYGNREEQNLSDLLSPTSEVANIEQNAQENENESQISTDESENSSRSPLNKPNNIRS
RAAPWNSFLPPPPHMPRSGLGPGKSGLNFSGPPPPPPPPPHFLSRWLPPFPAGPPMIPPP
PPICPDSLDDADALGSMLISWYMSGYHTGYYMGFKQSQKEGRYSHFN |
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Predicted Disorder Regions | 1-32, 40-89, 126-208, 217-222, 228-235, 245-250, 279-287 |
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DisProt Annotation | |
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TM Helix Prediction | No TM helices |
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Additional Comments | spinal muscular atrophy, is caused by loss or mutation of the survival motor neuron1 gene (SMN1) leading to reduced SMN protein levels and a selective dysfunction of motor neurons. |
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Bibliography | 1.Burghes AH, Beattie CE. Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? Nat Rev Neurosci. 2009 Aug;10(8):597-609. doi: 10.1038/nrn2670. Epub 2009 Jul 8. PMID: 19584893; PMCID: PMC2853768. |