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SBDS
Description
SBDS ribosome maturation factor
Image
GO Annotations
Cellular Component
Spindle Pole
Nucleus
Nucleoplasm
Nucleolus
Cytoplasm
Cytosol
Molecular Function
RNA Binding
Protein Binding
Microtubule Binding
RRNA Binding
Ribosome Binding
Biological Process
Inner Cell Mass Cell Proliferation
Hematopoietic Progenitor Cell Differentiation
RRNA Processing
Mitotic Spindle Organization
Bone Mineralization
Leukocyte Chemotaxis
Mature Ribosome Assembly
Bone Marrow Development
Pathways
Drugs
Diseases
Shwachman-Diamond syndrome (SDS)
Metaphyseal dysplasias, including: Metaphyseal dysplasia, Schmid type; Metaphyseal dysplasia, McKusik type; Metaphyseal dysplasia, Jansen type; Shwachman-Bodian-Diamond syndrome (SBDS); Metaphyseal anadysplasia (MAD)
Other phagocyte defects, including the following eight diseases: Chediak-Higashi syndrome; Griscelli syndrome, type 1 (GS1); Griscelli syndrome, type 2 (GS2); Griscelli syndrome, type 3 (GS3); beta-actin deficiency; Neutrophil-specific granule deficiency; Myeloperoxidase deficiency; Glucose 6-phosphate dehydrogenase deficiency; Shwachman syndrome
GWAS
Interacting Genes
8 interacting genes:
ACD
CLN3
EFL1
KLHL6
LMNA
POT1
TERF1
TERF2IP
Entrez ID
51119
HPRD ID
07393
Ensembl ID
ENSG00000126524
Uniprot IDs
A0A0S2Z5I7
Q9Y3A5
PDB IDs
2KDO
2L9N
5AN9
5ANB
5ANC
6QKL
Enriched GO Terms of Interacting Partners
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