InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SBDS

Summary

InnateDB Protein

IDBP-18888.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SBDS

Protein Name

Shwachman-Bodian-Diamond syndrome

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000246868

InnateDB Gene

IDBG-18886 (SBDS)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:17643419, ECO:0000269PubMed:19602484, ECO:0000269PubMed:19759903, ECO:0000269PubMed:21536732}.

Subcellular Localization

Cytoplasm. Nucleus, nucleolus. Nucleus, nucleoplasm. Cytoplasm, cytoskeleton, spindle. Note=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). {ECO:0000269PubMed:19759903}.

Disease Associations

Shwachman-Diamond syndrome (SDS) [MIM:260400]: Autosomal recessive disorder characterized by pancreatic exocrine insufficiency, hematologic dysfunction, and skeletal abnormalities. {ECO:0000269PubMed:12496757}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 35 experimentally validated interaction(s) in this database.

Experimentally validated
Total	35 [view]
Protein-Protein	35 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0008017	microtubule binding
GO:0019843	rRNA binding
GO:0043022	ribosome binding
GO:0044822	poly(A) RNA binding

Biological Process

GO:0001833	inner cell mass cell proliferation
GO:0006364	rRNA processing
GO:0008283	cell proliferation
GO:0030282	bone mineralization
GO:0030595	leukocyte chemotaxis
GO:0042254	ribosome biogenesis
GO:0042256	mature ribosome assembly
GO:0042273	ribosomal large subunit biogenesis
GO:0043148	mitotic spindle stabilization
GO:0048539	bone marrow development

Cellular Component

GO:0000922	spindle pole
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005730	nucleolus
GO:0005737	cytoplasm

Protein Structure and Domains

PDB ID

InterPro

IPR002140 Ribosome maturation protein SBDS
IPR018978 Ribosome maturation protein SBDS, C-terminal
IPR019783 Ribosome maturation protein SBDS, N-terminal

PFAM

PF09377
PF01172

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9Y3A5

PhosphoSite