| Primary Identifier | IPR018978 | Type | Domain |
| Short Name | SDO1/SBDS_central |
| description | This entry represents the central domain of proteins that are highly conserved in species ranging from archaea to vertebrates and plants []. This entry contains several Shwachman-Bodian-Diamond syndrome (SBDS) proteins from both mouse and humans. Shwachman-Diamond syndrome (OMIM 260400) is an autosomal recessive disorder with clinical features that include pancreatic exocrine insufficiency, haematological dysfunction and skeletal abnormalities. It is characterised by bone marrow failure and leukemia predisposition.Members of this entry play a role in RNA metabolism [, ]. In yeast, SBDS orthologue SDO1 is involved in the biogenesis of the 60S ribosomal subunit and translational activation of ribosomes. Together with the EF-2-like GTPase RIA1 (EfI1), it triggers the GTP-dependent release of TIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating TIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. This data links defective late 60S subunit maturation to an inherited bone marrow failure syndrome associated with leukemia predisposition [].The SBDS protein is composed of three domains. The N-terminal (FYSH, ) domain is the most frequent target for disease mutations and contains a novel mixed α/β-fold, the central domain (represented in this entry) consists of a three-helical bundle and the C-terminal domain () has a ferredoxin-like fold [, ]. |
