This entry represents the N-terminal domain of proteins that are highly conserved in species ranging from archaea to vertebrates and plants [[cite:PUB00020303]], including 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. It is characterised by bone marrow failure and leukemia predisposition. Members of this entry play a role in RNA metabolism [[cite:PUB00020304]][[cite:PUB00020305]]. In yeast these proteins have been shown to be critical for the release and recycling of the nucleolar shuttling factor Tif6 from pre-60S ribosomes, a key step in 60S maturation and translational activation of ribosomes [[cite:PUB00045126]]. This data links defective late 60S subunit maturation to an inherited bone marrow failure syndrome associated with leukemia predisposition [[cite:PUB00045126]].
","llm":false,"checked":false,"updated":false}],"wikipedia":[{"title":"SBDS","extract":"Ribosome maturation protein SBDS is a protein that in humans is encoded by the SBDS gene. An alternative transcript has been described, but its biological nature has not been determined. This gene has a closely linked pseudogene that is distally located. This gene encodes a member of a highly conserved protein family that exists in all archaea and eukaryotes.
","thumbnail":null}],"literature":{"PUB00020304":{"PMID":15701634,"ISBN":null,"volume":"280","issue":"19","year":2005,"title":"The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism.","URL":null,"raw_pages":"19213-20","medline_journal":"J Biol Chem","ISO_journal":"J. Biol. Chem.","authors":["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."],"DOI_URL":"http://dx.doi.org/10.1074/jbc.M414421200"},"PUB00045126":{"PMID":17353896,"ISBN":null,"volume":"39","issue":"4","year":2007,"title":"The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast.","URL":null,"raw_pages":"486-95","medline_journal":"Nat Genet","ISO_journal":"Nat. Genet.","authors":["Menne TF","Goyenechea B","Sanchez-Puig N","Wong CC","Tonkin LM","Ancliff PJ","Brost RL","Costanzo M","Boone C","Warren AJ."],"DOI_URL":"http://dx.doi.org/10.1038/ng1994"},"PUB00020303":{"PMID":12496757,"ISBN":null,"volume":"33","issue":"1","year":2003,"title":"Mutations in SBDS are associated with Shwachman-Diamond syndrome.","URL":null,"raw_pages":"97-101","medline_journal":"Nat Genet","ISO_journal":"Nat. Genet.","authors":["Boocock GR","Morrison JA","Popovic M","Richards N","Ellis L","Durie PR","Rommens JM."],"DOI_URL":"http://dx.doi.org/10.1038/ng1062"},"PUB00020305":{"PMID":15701631,"ISBN":null,"volume":"280","issue":"19","year":2005,"title":"Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome.","URL":null,"raw_pages":"19221-9","medline_journal":"J Biol Chem","ISO_journal":"J. Biol. Chem.","authors":["Shammas C","Menne TF","Hilcenko C","Michell SR","Goyenechea B","Boocock GR","Durie PR","Rommens JM","Warren AJ."],"DOI_URL":"http://dx.doi.org/10.1074/jbc.M414656200"}},"set_info":null,"overlaps_with":null,"counters":{"subfamilies":0,"domain_architectures":73,"interactions":0,"matches":5781,"pathways":0,"proteins":5765,"proteomes":3701,"sets":0,"structural_models":{"alphafold":4925},"structures":14,"taxa":9360},"entry_annotations":{"hmm":0,"logo":0,"alignment:seed":224,"alignment:full":4229},"cross_references":{},"is_llm":false,"is_reviewed_llm":false,"is_updated_llm":false,"representative_structure":null}}