Family

Ribosome maturation protein Sdo1/SBDS (IPR002140)

Short name: Sdo1/SBDS

Family relationships

None.

Description

The proteins in this entry are highly conserved in species ranging from archaea to vertebrates and plants [PMID: 12496757]. The family contains 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 [PMID: 17353896]. SBDS is required for the assembly of mature ribosomes and ribosome biogenesis [PMID: 21536732].

Homologue of SBDS from budding yeast is known as Sdo1, which is a guanine nucleotide exchange factor (GEF) involved in ribosome maturation. Together with the EF-2-like GTPase RIA1 (EfI1), it triggers the GTP-dependent release of TIF6 from 60S pre-ribosomes in the cytoplasm, allowing the assembly of mature ribosomes [PMID: 23831625].

GO terms

Biological Process

GO:0042256 mature ribosome assembly

Molecular Function

No terms assigned in this category.

Cellular Component

No terms assigned in this category.

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
TIGRFAMs
PANTHER