Description

IPR037188 is a Ribosome maturation protein Sdo1/SBDS, central domain superfamily.

<p>Proteins containing this domain are highly conserved in species ranging from archaea to vertebrates and plants [[cite:PUB00020303]], including several Shwachman-Bodian-Diamond syndrome (SBDS, OMIM 260400) proteins from both mouse and humans. Shwachman-Diamond syndrome 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 superfamily play a role in RNA metabolism [[cite:PUB00020305], [cite:PUB00020304]]. In yeast 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 [[cite:PUB00045126]].</p> <p>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 [[cite:PUB00020305], [cite:PUB00076340]].</p>

This description is obtained from EB-eye REST.

Associated GO terms

Unable to find any GO terms for the transcript with the identifier.

Associated Lotus transcripts 2

Co-occuring domains 1

A list of co-occurring predicted domains within the L. japonicus gene space: