SBDS

Name	SBDS ribosome maturation factor
Structure
Interactors	10 interactors: ACD CEBPA CLN3 EFL1 KLHL6 LMNA POT1 RNF2 TERF1 TERF2IP
GO Annotations	Cellular Component	Spindle Pole Nucleus Nucleoplasm Nucleolus Cytoplasm Spindle Cytosol Cytoskeleton
	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 Ribosome Biogenesis Cytosolic Ribosome Assembly Bone Marrow Development
Diseases	Shwachman-Diamond syndrome (SDS) 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 Metaphyseal dysplasias, including: Metaphyseal dysplasia, Schmid type; Metaphyseal dysplasia, McKusik type; Metaphyseal dysplasia, Jansen type; Shwachman-Bodian-Diamond syndrome (SBDS); Metaphyseal anadysplasia (MAD)
GWAS	No GWAS studies recorded
Entrez ID	51119
HPRD ID	07393
Ensembl ID	ENSG00000126524
Uniprot IDs	A0A0S2Z5I7 Q9Y3A5
PDB IDs	2KDO 2L9N 5AN9 5ANB 5ANC 6QKL
GO Terms Enriched among Interactors ?	Shelterin Complex Nuclear Telomere Cap Complex Telomere Capping Telomere Maintenance Via Telomerase RNA-templated DNA Biosynthetic Process Telomeric DNA Binding Telomere Maintenance Via Telomere Lengthening Regulation Of Telomere Maintenance Negative Regulation Of Telomere Maintenance G-rich Strand Telomeric DNA Binding Positive Regulation Of Telomere Maintenance Negative Regulation Of Chromosome Organization Regulation Of Chromosome Organization DNA Biosynthetic Process Negative Regulation Of Telomere Maintenance Via Telomerase Telomere Maintenance Positive Regulation Of Chromosome Organization Negative Regulation Of Telomere Maintenance Via Telomere Lengthening Telomere Organization Negative Regulation Of DNA Biosynthetic Process Negative Regulation Of DNA Metabolic Process Telomere Assembly Regulation Of Telomere Maintenance Via Telomerase Chromosome, Telomeric Region Macromolecule Biosynthetic Process Regulation Of Telomere Maintenance Via Telomere Lengthening Regulation Of DNA Metabolic Process Regulation Of Establishment Of Protein Localization To Telomere Regulation Of Establishment Of Protein Localization To Chromosome Telomerase Inhibitor Activity Establishment Of Protein Localization To Telomere Protection From Non-homologous End Joining At Telomere Organelle Organization Negative Regulation Of Macromolecule Metabolic Process Telomeric D-loop Disassembly Positive Regulation Of DNA Metabolic Process Regulation Of DNA Biosynthetic Process Negative Regulation Of Metabolic Process Telomeric Loop Disassembly Protein Localization To Chromosome, Telomeric Region Regulation Of Organelle Organization Chromosome Negative Regulation Of Cellular Component Organization Telomere Maintenance In Response To DNA Damage Chromosome Organization Nuclear Body Nucleobase-containing Compound Biosynthetic Process Negative Regulation Of Nucleobase-containing Compound Metabolic Process Macromolecule Metabolic Process Positive Regulation Of Organelle Organization