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Primary Information | |
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| BoMiProt ID | Bomi3474 |
| Protein Name | 28S ribosomal protein S2, mitochondrial |
| Organism | Bos taurus |
| Uniprot ID | P82923 |
| Milk Fraction | Whey |
| Ref Sequence ID | NP_001092347.1 |
| Aminoacid Length | 293 |
| Molecular Weight | 31729 |
| FASTA Sequence | Download |
| Gene Name | MRPS2/S2mt |
| Gene ID | 505681 |
| Protein Existence Status | Reviewed |
Secondary Information | |
| Protein Function | mitochondrial-specific ribosomes that carryout mitochondrial translation is executed by a dedicated translation machinery.mitoribosome assembly.mitochondrial-specific ribosome composed of two subunits: the 28S (mt-SSU) and 39S (mt-LSU) ribosomal subunits. |
| Site(s) of PTM(s) N-glycosylation, O-glycosylation, Phosphorylation | na |
| SCOP | Class : Alpha and beta proteins (a/b) Fold : Rossmann(2x3)oid (Flavodoxin-like) Superfamily : SIS domain/Ribosomal protein S2-like Family : Ribosomal protein S2-like Domain Name : 3JD5 B:47-263 |
| CATH | Matched CATH superfamily n/a |
| Predicted Disorder Regions | 1-49, 257-293 |
| DisProt Annotation | |
| TM Helix Prediction | No TM helices |
| PDB ID | 3JD5,6NEQ,6NF8, |
| Additional Comments | mutation of this gene causes Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies |
| Bibliography | Gardeitchik T, Mohamed M, Ruzzenente B, Karall D, Guerrero-Castillo S, Dalloyaux D, van den Brand M, van Kraaij S, van Asbeck E, Assouline Z, Rio M, de Lonlay P, Scholl-Buergi S, Wolthuis DFGJ, Hoischen A, Rodenburg RJ, Sperl W, Urban Z, Brandt U, Mayr JA, Wong S, de Brouwer APM, Nijtmans L, Munnich A, Rötig A, Wevers RA, Metodiev MD, Morava E. Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies. Am J Hum Genet. 2018 Apr 5;102(4):685-695. doi: 10.1016/j.ajhg.2018.02.012. Epub 2018 Mar 22. PMID: 29576219; PMCID: PMC5985281. |