SBDS Gene Summary [Human]
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. [provided by RefSeq, Jan 2017]
Details
| Type | Protein Coding |
| Official Symbol | SBDS |
| Official Name | SBDS ribosome maturation factor [Source:HGNC Symbol;Acc:HGNC:19440] |
| Ensembl ID | ENSG00000126524 |
| Bio databases IDs | |
| Aliases | SBDS ribosome maturation factor |
| Synonyms | 4733401P19Rik, CGI-97, SBDS ribosome maturation factor, Sbds, ribosome maturation factor, SDO1, SDS, Shwachman-bodian-diamond syndrome protein homolog, SWDS |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SBDS often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- microtubule binding
- rRNA binding
- ribosome binding
- Shwachman-Bodian-Diamond syndrome (SBDS) protein
- rRNA metabolism protein, SBDS family
- protein binding
- SBDS protein, C-terminal domain
- SBDS protein, domain II
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Shwachman-Diamond syndrome type 1
- aplastic anemia
- mental retardation
- hereditary disorder
- atopic dermatitis
- Shwachman syndrome
- myelodysplastic syndrome
role in cell
- accumulation in
- expression in
- apoptosis
- production in
- binding in
- migration
- binding
- colony formation
- differentiation
- expansion
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- cytosol
- nucleoplasm
- nucleoli
- spindle pole
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SBDS gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- bone mineralization
- inner cell mass cell proliferation
- mitotic spindle organization
- rRNA processing
- leukocyte chemotaxis
- mature ribosome assembly
- hemopoietic progenitor cell differentiation
- bone marrow development
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- spindle pole
- cytosol
- nucleolus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- RNA binding
- protein binding
- ribosome binding
- rRNA binding
- microtubule binding