SBDS

This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal subunit allowing assembly of the 80S subunit. Mutations within this gene are associated with the autosomal recessive disorder Shwachman-Bodian-Diamond syndrome. This gene has a closely linked pseudogene that is distally located.

Full Name

SBDS, Ribosome Maturation Factor

Function

Required for the assembly of mature ribosomes and ribosome biogenesis. Together with EFL1, 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.

Biological Process

Biological Process bone marrow developmentManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process bone mineralizationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process hematopoietic progenitor cell differentiationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process inner cell mass cell proliferationIEA:Ensembl
Biological Process leukocyte chemotaxisManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process mature ribosome assemblyManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process mitotic spindle organizationManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process rRNA processingManual Assertion Based On ExperimentIMP:UniProtKB

Cellular 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 (PubMed:19759903).

Involvement in disease

Shwachman-Diamond syndrome 1 (SDS1):
A form of Shwachman-Diamond syndrome, a disorder characterized by hematopoietic abnormalities, exocrine pancreatic dysfunction, and skeletal dysplasia. Intermittent or chronic neutropenia is the most common hematological manifestation, followed by anemia and thrombocytopenia. Some patients progress to bone marrow failure, myelodysplastic syndrome and malignant transformation, with acute myelogenous leukemia being the most common. Exocrine pancreatic dysfunction is generally the first presenting symptom in infancy. Short stature and metaphyseal dysplasia are the most frequent skeletal manifestations. SDS1 inheritance is autosomal recessive.