SBDS

Gene Name		Shwachman-Bodian-Diamond syndrome
Image
Gene Ontology Annotations	Cellular Component	Spindle Pole Nucleus Nucleoplasm Nucleolus Cytoplasm
	Molecular Function	Protein Binding Microtubule Binding RRNA Binding Ribosome Binding Poly(A) RNA Binding
	Biological Process	Inner Cell Mass Cell Proliferation RRNA Processing Cell Proliferation Bone Mineralization Leukocyte Chemotaxis Mature Ribosome Assembly Ribosomal Large Subunit Biogenesis Mitotic Spindle Stabilization Bone Marrow Development
Pathways
Drugs
Diseases
GWAS
Protein-protein Interactions		5 interactors: ACD CLN3 POT1 TERF1 TERF2IP
Entrez ID		51119
HPRD ID		07393
Ensembl ID		ENSG00000126524
Uniprot IDs		Q9Y3A5
PDB IDs		2KDO 2L9N
Enriched GO Terms of Interacting Partners?		Negative Regulation Of Telomere Maintenance Regulation Of Telomere Maintenance Telomere Capping Negative Regulation Of Telomere Maintenance Via Telomerase Telomere Maintenance Telomere Maintenance Via Telomerase Regulation Of Telomere Maintenance Via Telomerase Negative Regulation Of Chromosome Organization Negative Regulation Of DNA Metabolic Process Regulation Of Telomerase Activity RNA-dependent DNA Replication Telomere Maintenance Via Telomere Lengthening Regulation Of Chromosome Organization Regulation Of DNA Biosynthetic Process Negative Regulation Of DNA Replication Telomere Assembly Protection From Non-homologous End Joining At Telomere Protein Localization To Chromosome, Telomeric Region Positive Regulation Of Telomerase Activity Homeostatic Process Regulation Of DNA Replication Negative Regulation Of Telomerase Activity Negative Regulation Of Cellular Metabolic Process Positive Regulation Of DNA Biosynthetic Process Negative Regulation Of DNA Biosynthetic Process Regulation Of Organelle Organization Protein Localization To Chromosome DNA Replication Chromosome Organization DNA Metabolic Process Organelle Organization Positive Regulation Of DNA Replication Positive Regulation Of Single-stranded Telomeric DNA Binding Positive Regulation Of DNA Strand Elongation Lysosomal Lumen PH Elevation Negative Regulation Of DNA Recombination At Telomere Regulation Of Cellular Component Organization Negative Regulation Of Catalytic Activity Positive Regulation Of DNA Metabolic Process Globoside Metabolic Process Negative Regulation Of Telomere Maintenance Via Semi-conservative Replication Cellular Nitrogen Compound Metabolic Process Regulation Of Catalytic Activity Telomeric Loop Formation Age-dependent Telomere Shortening Telomere Formation Via Telomerase Nitrogen Compound Metabolic Process Telomere Maintenance Via Telomere Shortening Lysosomal Lumen Acidification Regulation Of Lysosomal Lumen PH
Tagcloud ?		ancestral aromatic arose catalyzed centrally confer consists corresponds duplication heterotrimeric homotetrameric inactivates lethal mystery notion p13 p36 p69 photocross protomer refer rpa ssb ssbs ssdna stably tetrameric wrapping