This gene encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants. The encoded protein may function in RNA metabolism. Mutations within this gene are associated with Shwachman-Bodian-Diamond syndrome. 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. [provided by RefSeq, Jul 2008]
Function:
Required for the assembly of mature ribosomes and ribosome biogenesis. Together with EFTUD1, triggers the GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and 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.
Subcellular Location:
Cytoplasm. Nucleus > nucleolus. Nucleus > nucleoplasm. Cytoplasm > cytoskeleton > spindle. Primarily detected in the cytoplasm, and at low levels in nucleus and nucleolus (PubMed:19602484 and PubMed:17475909). Detected in the nucleolus during G1 and G2 phase of the cell cycle, and diffusely distributed in the nucleus during S phase. Detected at the mitotic spindle. Colocalizes with the microtubule organizing center during interphase.
Tissue Specificity:
Widely expressed.
DISEASE:
Defects in SBDS are the cause of Shwachman-Diamond syndrome (SDS) [MIM:260400]. SDS is an autosomal recessive disorder characterized by pancreatic exocrine insufficiency, hematologic dysfunction, and skeletal abnormalities.
Similarity:
Belongs to the SDO1/SBDS family.
SWISS:
Q9Y3A5
Gene ID:
51119
Database links:
Entrez Gene: 51119 Human
Entrez Gene: 513237 Cow
Entrez Gene: 66711 Mouse
Entrez Gene: 288615 Rat
Omim: 607444 Human
SwissProt: Q3SWZ6 Cow
SwissProt: Q9Y3A5 Human
SwissProt: P70122 Mouse
SwissProt: Q5RK30 Rat
Unigene: 12631 Cow
Unigene: 110445 Human
Unigene: 280484 Mouse
Unigene: 107123 Rat
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