Search by BoMiProt ID - Bomi3474

Primary Information

BoMiProt ID Bomi3474
Protein Name 28S ribosomal protein S2, mitochondrial
Organism Bos taurus
Uniprot IDP82923
Milk FractionWhey
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,
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
Predicted Disorder Regions 1-49, 257-293
DisProt Annotation
TM Helix Prediction No TM helices
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.