| Ensembl ID | Symbol | Entrez ID | RBD | RBPome | PRI | Expresion | Pathway | Phenotype | Paralog | Ortholog | GO |
|---|---|---|---|---|---|---|---|---|---|---|---|
This family is highly conserved in species ranging from archaea to vertebrates and plants. The family contains several Shwachman-Bodian-Diamond syndrome (SBDS) 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. Members of this family play a role in RNA metabolism [2] [3].
This entry represents the C-terminal domain of proteins that are highly conserved in species ranging from archaea to vertebrates and plants [PUBMED: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. Members of this family play a role in RNA metabolism [PUBMED:15701631, PUBMED:15701634]. 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 [PUBMED:17353896].
Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, Rommens JM; , Nat Genet 2003;33:97-101.: Mutations in SBDS are associated with Shwachman-Diamond syndrome. PUBMED:12496757 EPMC:12496757 .
Savchenko A, Krogan N, Cort JR, Evdokimova E, Lew JM, Yee AA, Sanchez-Pulido L, Andrade MA, Bochkarev A, Watson JD, Kennedy MA, Greenblatt J, Hughes T, Arrowsmith CH, Rommens JM, Edwards AM; , J Biol Chem 2005; [Epub ahead of print]: The SHWACHMAN-Bodian-diamond syndromeprotein family is involved in RNA metabolism. PUBMED:15701634 EPMC:15701634 .
Shammas C, Menne TF, Hilcenko C, Michell SR, Goyenechea B, Boocock GR, Durie PR, Rommens JM, Warren AJ; , J Biol Chem 2005; [Epub ahead of print]: Structural and mutational analysis of the SBDS protein family: insight into the leukemia-associated shwachman-diamond syndrome. PUBMED:15701631 EPMC:15701631.
