CLN3 and SBDS

Number of citations: 49 (PubMedID 20015955)
Data Source: BioGRID (two hybrid)

		CLN3	SBDS
Name		CLN3 lysosomal/endosomal transmembrane protein, battenin	SBDS ribosome maturation factor
Structure		No pdb structure
GO Annotations	Cellular Component	Golgi Membrane Nucleus Cytoplasm Lysosome Lysosomal Membrane Endosome Early Endosome Late Endosome Autophagosome Endoplasmic Reticulum Endoplasmic Reticulum Membrane Golgi Apparatus Golgi Stack Trans-Golgi Network Cytosol Plasma Membrane Caveola Synaptic Vesicle Membrane Cytoplasmic Vesicle Early Endosome Membrane Late Endosome Membrane Neuron Projection Autolysosome Membrane Raft Synapse Recycling Endosome	Spindle Pole Nucleus Nucleoplasm Nucleolus Cytoplasm Spindle Cytosol Cytoskeleton
	Molecular Function	Protein Binding Glycolipid Transfer Activity Calcium-dependent Protein Binding Glycolipid Binding Sulfatide Binding	RNA Binding Protein Binding Microtubule Binding RRNA Binding Ribosome Binding
	Biological Process	Action Potential Amino Acid Transport Endocytosis Receptor-mediated Endocytosis Lysosome Organization Lysosomal Lumen Acidification Learning Or Memory Associative Learning Intracellular Water Homeostasis Regulation Of Autophagy Regulation Of Fibroblast Migration Macroautophagy Regulation Of Autophagosome Size Protein Processing Intracellular Monoatomic Cation Homeostasis Actin Cytoskeleton Organization Regulation Of Proteolysis Regulation Of Synaptic Transmission, GABAergic Ionotropic Glutamate Receptor Signaling Pathway Ceramide Transport Lysosomal Lumen PH Elevation Renal Potassium Excretion Amyloid Precursor Protein Catabolic Process Positive Regulation Of Golgi To Plasma Membrane Protein Transport Negative Regulation Of Apoptotic Process Negative Regulation Of Neuron Apoptotic Process Blood Vessel Endothelial Cell Migration 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 Cytosolic Calcium Ion Concentration Regulation Of Filopodium Assembly Regulation Of Cytoskeleton Organization Establishment Of Localization In Cell Regulation Of Synaptic Transmission, Glutamatergic Membrane Organization Autophagosome-lysosome Fusion Regulation Of Biological Quality Regulation Of Protein Processing Protein Localization To Membrane Protein Localization To Plasma Membrane 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 L-arginine Transmembrane Transport Lysosomal Protein Catabolic Process Regulation Of Phagosome Maturation Regulation Of Modification Of Synaptic Structure Positive Regulation Of Caveolin-mediated Endocytosis	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
Pathways		Glycosphingolipid transport	None
Diseases		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) 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)	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		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 ) Bullous pemphigoid ( 34011352 ) 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 )	No GWAS studies recorded
Interacting Genes		2 interacting genes: KCNIP3 SBDS	10 interacting genes: ACD CEBPA CLN3 EFL1 KLHL6 LMNA POT1 RNF2 TERF1 TERF2IP
Entrez ID		1201	51119
HPRD ID		08450	07393
Ensembl ID		ENSG00000188603	ENSG00000126524
Uniprot IDs		B4DFF3 B4DMY6 Q13286 Q2TA70	A0A0S2Z5I7 Q9Y3A5
PDB IDs		Not available	2KDO 2L9N 5AN9 5ANB 5ANC 6QKL
GO Terms Enriched among Interactors		None	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