SBDS and CLN3

Data Source:
BioGRID (two hybrid)

		SBDS	CLN3
Description		SBDS ribosome maturation factor	CLN3 lysosomal/endosomal transmembrane protein, battenin
Image			No pdb structure
GO Annotations	Cellular Component	Spindle Pole Nucleus Nucleoplasm Nucleolus Cytoplasm Cytosol	Golgi Membrane Nucleus Cytoplasm Lysosome Lysosomal Membrane Early Endosome Late Endosome Vacuole Autophagosome Endoplasmic Reticulum Golgi Apparatus Golgi Stack Trans-Golgi Network Cytosol Plasma Membrane Caveola Synaptic Vesicle Integral Component Of Membrane Integral Component Of Endoplasmic Reticulum Membrane Early Endosome Membrane Late Endosome Membrane Neuron Projection Autolysosome Membrane Raft Recycling Endosome
	Molecular Function	RNA Binding Protein Binding Microtubule Binding RRNA Binding Ribosome Binding	Protein Binding Glycolipid Binding Sulfatide 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	Action Potential Receptor-mediated Endocytosis Lysosome Organization Lysosomal Lumen Acidification Learning Or Memory Associative Learning Cellular Water Homeostasis Regulation Of Fibroblast Migration Arginine Transport Protein Processing Regulation Of Synaptic Transmission, GABAergic Ionotropic Glutamate Receptor Signaling Pathway Lysosomal Lumen PH Elevation Renal Potassium Excretion Neurotransmitter Metabolic Process Amyloid Precursor Protein Catabolic Process Positive Regulation Of Golgi To Plasma Membrane Protein Transport Negative Regulation Of Apoptotic Process Negative Regulation Of Catalytic Activity Negative Regulation Of Neuron Apoptotic Process Plasma Membrane Raft Organization Negative Regulation Of Proteolysis Glycerophospholipid Biosynthetic Process Glycolipid Transport Vesicle Transport Along Microtubule Regulation Of Short-term Neuronal Synaptic Plasticity Positive Regulation Of Pinocytosis Neuromuscular Process Controlling Balance Regulation Of Intracellular PH Regulation Of Cytosolic Calcium Ion Concentration Regulation Of Cytoskeleton Organization Regulation Of Synaptic Transmission, Glutamatergic Membrane Organization Autophagosome-lysosome Fusion Regulation Of Protein Processing Golgi To Lysosome Transport Phagosome-lysosome Docking Phagosome-lysosome Fusion Autophagosome Maturation Regulation Of Cellular Response To Osmotic Stress Regulation Of Arginine Biosynthetic Process Regulation Of Autophagosome Maturation Regulation Of Protein Localization To Plasma Membrane Lysosomal Protein Catabolic Process Regulation Of Phagosome Maturation Regulation Of Modification Of Synaptic Structure Positive Regulation Of Caveolin-mediated Endocytosis
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	Neuronal ceroid lipofuscinosis, including: Infantile Neuronal Ceroid Lipofuscinosis (INCL)/ Santavuori-Haltia Disease (CLN1); Late-Infantile Neuronal Ceroid Lipofuscinosis (LINCL)/ Jansky-Bielschowsky Disease (CLN2); Juvenile Neuronal Ceroid Lipofuscinosis (JNCL)/Batten Disease/ Spielmeyer-Vogt Disease (CLN3); Adult Neuronal Ceroid Lipofuscinosis (ANCL)/ Kufs Disease (CLN4); LINCL variant (CLN5, CLN6, CLN7, CLN8); Batten Disease variant (CLN9); Congenital NCL (CLN10) Progressive myoclonic epilepsy (PME), including: Lafora disease (LBD); Unverricht-Lundborg disease (ULD); Neuronal ceroid lipofuscinoses (NCL); Type I sialidosis; Action myoclonus-renal failure syndrome (AMRF); Type III Gaucher disease (GD)
GWAS			Body fat distribution (arm fat ratio) ( 30664634) Body fat distribution (leg fat ratio) ( 30664634) Body fat distribution (trunk fat ratio) ( 30664634) Brain morphology (MOSTest) ( 32665545) Crohn's disease ( 28067908) Extremely high intelligence ( 29520040) General cognitive ability ( 29844566) Inflammatory bowel disease ( 28067908) Inflammatory bowel disease (early onset) ( 19915574) Intelligence (MTAG) ( 29326435) Lamb consumption ( 32066663) Mean platelet volume ( 32888494) Platelet count ( 32888494) Platelet distribution width ( 27863252) Type 1 diabetes ( 30572963)
Interacting Genes		8 interacting genes: ACD CLN3 EFL1 KLHL6 LMNA POT1 TERF1 TERF2IP	2 interacting genes: KCNIP3 SBDS
Entrez ID		51119	1201
HPRD ID		07393	08450
Ensembl ID		ENSG00000126524	ENSG00000188603
Uniprot IDs		A0A0S2Z5I7 Q9Y3A5	A0A024QZB8 B4DFF3 B4DMY6 Q13286 Q2TA70
PDB IDs		2KDO 2L9N 5AN9 5ANB 5ANC 6QKL
Enriched GO Terms of Interacting Partners?
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