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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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