Shwachman-Bodian-Diamond syndrome protein; ribosome maturation protein SBDS (SBDS)

Function

• required for the biogenesis & assembly of mature ribosomes
• together with EFTUD1, triggers GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly & facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing & nuclear export
• required for normal levels of protein synthesis
• may play a role in cellular stress resistance
• may play a role in cellular response to DNA damage
• may play a role in cell proliferation
• associates with the 60S ribosomal subunit
• interacts with NPM1, RPA1 & PRKDC
• may interact with NIP7

Structure

belongs to the SDO1/SBDS family

Compartment

• cytoplasm, cytoskeleton, spindle
• nucleus, nucleolus, nucleoplasm
• primarily detected in the cytoplasm, & at low levels in nucleus & nucleolus
• detected in the nucleolus during G1 & G2 phase of the cell cycle, & diffusely distributed in the nucleus during S phase
• detected at the mitotic spindle
• colocalizes with the microtubule organizing center during interphase

Expression

widely expressed

Pathology

• defects in SBDS are the cause of Shwachman-Diamond syndrome

More general terms

• other protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=51119
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:51119
• OMIM: https://mirror.omim.org/entry/260400
• OMIM: https://mirror.omim.org/entry/607444
• UniProt: http://www.uniprot.org/uniprot/Q9Y3A5.html