InterPro domain: IPR039100

Shwachman-Bodian-Diamond syndrome (SDS) is an autosomal disorder with pancreatic, skeletal and bone marrow deficiencies and a predisposition to hematological dysfunction. The syndrome is associated with mutations in the SBDS gene, which encodes a protein that is required for biogenesis of the 60S ribosomal subunit and activation of the ribosome [ 1 ]. Maturation of the ribosomal 60S subunit requires SBDS and the GTPase EFL1, which release the anti-association factor eIF6 from the surface of the ribosomal subunit 60S [ 2 ]. In yeast, SBDS is known as Sdo1, which with the EF-2-like GTPase Ria1, may trigger the GTP-dependent release of Tif6 from 60S pre-ribosomes in the cytoplasm, thereby activating them [ 3 ].

This entry also includes Sdo1/SBDS related proteins, including Rtc3 from budding yeasts. The function of Rtc3 is not clear.

1. The Shwachman-Bodian-Diamond syndrome associated protein interacts with HsNip7 and its down-regulation affects gene expression at the transcriptional and translational levels. Exp. Cell Res. 313, 4180-95
2. Defective Guanine Nucleotide Exchange in the Elongation Factor-like 1 (EFL1) GTPase by Mutations in the Shwachman-Diamond Syndrome Protein. J. Biol. Chem. 290, 17669-78
3. The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast. Nat. Genet. 39, 486-95