RBSN and PSEN1

		RBSN	PSEN1
Description		rabenosyn, RAB effector	presenilin 1
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GO Annotations	Cellular Component	Endosome Cytosol Plasma Membrane Endosome Membrane Early Endosome Membrane Intracellular Membrane-bounded Organelle Extracellular Exosome	Golgi Membrane Kinetochore Nucleus Nuclear Outer Membrane Nucleoplasm Mitochondrion Mitochondrial Inner Membrane Lysosomal Membrane Endoplasmic Reticulum Endoplasmic Reticulum Membrane Smooth Endoplasmic Reticulum Rough Endoplasmic Reticulum Golgi Apparatus Centrosome Plasma Membrane Integral Component Of Plasma Membrane Cell Cortex Synaptic Vesicle Cell Surface Membrane Integral Component Of Membrane Aggresome Apical Plasma Membrane Z Disc Cell Junction Growth Cone Neuromuscular Junction Early Endosome Membrane Nuclear Membrane Protein-containing Complex Ciliary Rootlet Azurophil Granule Membrane Sarcolemma Neuron Projection Neuronal Cell Body Dendritic Shaft Membrane Raft Perinuclear Region Of Cytoplasm Gamma-secretase Complex Integral Component Of Presynaptic Membrane
	Molecular Function	Protein Binding Zinc Ion Binding	Endopeptidase Activity Aspartic-type Endopeptidase Activity Calcium Channel Activity Protein Binding Beta-catenin Binding PDZ Domain Binding Aspartic Endopeptidase Activity, Intramembrane Cleaving Cadherin Binding ATPase Binding Growth Factor Receptor Binding
	Biological Process	Protein Transport Endosomal Transport Early Endosome To Golgi Transport Golgi To Lysosome Transport Regulation Of Golgi Organization	Autophagosome Assembly Negative Regulation Of Transcription By RNA Polymerase II Blood Vessel Development Cell Fate Specification Somitogenesis Neuron Migration Positive Regulation Of Receptor Recycling Heart Looping Positive Regulation Of L-glutamate Import Across Plasma Membrane Hematopoietic Progenitor Cell Differentiation Astrocyte Activation Involved In Immune Response T Cell Activation Involved In Immune Response Neural Retina Development Protein Glycosylation Membrane Protein Ectodomain Proteolysis Calcium Ion Transport Mitochondrial Transport Cellular Response To DNA Damage Stimulus Response To Oxidative Stress Negative Regulation Of Epidermal Growth Factor-activated Receptor Activity Notch Signaling Pathway Notch Receptor Processing Learning Or Memory Memory Post-embryonic Development Regulation Of Gene Expression Positive Regulation Of Gene Expression Negative Regulation Of Gene Expression Regulation Of Neuron Projection Development Protein Transport Choline Transport Synaptic Vesicle Targeting Protein Processing Cerebellum Development Cerebral Cortex Cell Migration Cajal-Retzius Cell Differentiation Dorsal/ventral Neural Tube Patterning Embryonic Limb Morphogenesis Positive Regulation Of Protein Binding Positive Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process Endoplasmic Reticulum Calcium Ion Homeostasis Positive Regulation Of Tumor Necrosis Factor Production Amyloid-beta Formation Intracellular Signal Transduction Positive Regulation Of Protein Import Into Nucleus Regulation Of Phosphorylation Positive Regulation Of Phosphorylation Amyloid Precursor Protein Metabolic Process Amyloid Precursor Protein Catabolic Process Myeloid Dendritic Cell Differentiation Positive Regulation Of Apoptotic Process Negative Regulation Of Apoptotic Process Positive Regulation Of Catalytic Activity Positive Regulation Of MAP Kinase Activity Negative Regulation Of Neuron Apoptotic Process Skin Morphogenesis Positive Regulation Of Glycolytic Process Positive Regulation Of Transcription, DNA-templated Astrocyte Activation Regulation Of Synaptic Plasticity Thymus Development Neuron Development Skeletal System Morphogenesis Brain Morphogenesis Amyloid-beta Metabolic Process Epithelial Cell Proliferation Negative Regulation Of Axonogenesis Synapse Organization Positive Regulation Of Coagulation T Cell Receptor Signaling Pathway Sequestering Of Calcium Ion Neuron Apoptotic Process Negative Regulation Of Ubiquitin-protein Transferase Activity Smooth Endoplasmic Reticulum Calcium Ion Homeostasis Regulation Of Synaptic Transmission, Glutamatergic Regulation Of Resting Membrane Potential Regulation Of Canonical Wnt Signaling Pathway Positive Regulation Of Dendritic Spine Development Calcium Ion Transmembrane Transport Modulation Of Age-related Behavioral Decline Cell-cell Adhesion L-glutamate Import Across Plasma Membrane Cellular Response To Amyloid-beta Negative Regulation Of Core Promoter Binding Negative Regulation Of Low-density Lipoprotein Receptor Activity Positive Regulation Of Amyloid Fibril Formation Neuron Projection Maintenance Negative Regulation Of Ubiquitin-dependent Protein Catabolic Process Negative Regulation Of Apoptotic Signaling Pathway
Pathways		Toll Like Receptor 9 (TLR9) Cascade Factors involved in megakaryocyte development and platelet production	Nuclear signaling by ERBB4 Degradation of the extracellular matrix Regulated proteolysis of p75NTR NRIF signals cell death from the nucleus Activated NOTCH1 Transmits Signal to the Nucleus Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants NOTCH2 Activation and Transmission of Signal to the Nucleus EPH-ephrin mediated repulsion of cells Neutrophil degranulation NOTCH3 Activation and Transmission of Signal to the Nucleus NOTCH4 Activation and Transmission of Signal to the Nucleus Noncanonical activation of NOTCH3
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Diseases
GWAS			Apolipoprotein B levels ( 32203549) Glycated hemoglobin levels ( 34059833) Red cell distribution width ( 32888494) Refractive error ( 32231278) Reticulocyte fraction of red cells ( 32888494)
Interacting Genes		15 interacting genes: AGTR1 DISC1 DNAJC5 DTNBP1 EHD1 EHD2 MAPK14 PSEN1 RAB14 RAB24 RAB2A RAB4A RAB5A RAB5C VPS45	98 interacting genes: ACTN1 AP1M2 APBA1 APH1A APH1B APOE APP BACE1 BCL2 BCL2L1 CASP1 CASP3 CASP4 CASP6 CASP7 CASP8 CDH1 CDK5 CFL1 CIB1 CKB CTNNA1 CTNNB1 CTNND1 CTNND2 CYP2C18 CYP2C8 DCT DLL1 DOCK3 ECSIT EFHD1 EFNB2 ENSA EPB41L3 ERN1 ETFA FBXL12 FBXW7 FGF13 FLNA FLNB GAPDH GCDH GDI1 GFAP GSK3B GSTZ1 HERPUD1 HMGB1 ICAM5 ITSN2 JUP KANK2 KCNIP3 KCNIP4 LRRC74A MAPK9 MAPT METTL2B MTCH1 NCSTN NOS3 NOTCH1 NOTCH2 NOTCH3 NOTCH4 OXCT1 PDCD4 PIK3R1 PKP4 PRAM1 PRDX2 PRKACA PRKCZ PSENEN PSMA5 PSMB1 RAB11A RAB3A RAD23A RBSN RHEB RMDN3 RNF32 RYR2 SCAF11 SCN1A SLC10A6 SNUPN ST13 STAMBPL1 TCF7L2 TDP2 TUBA1B UBQLN1 UMPS YME1L1
Entrez ID		64145	5663
HPRD ID		15732	00087
Ensembl ID		ENSG00000131381	ENSG00000080815
Uniprot IDs		A8K5H3 Q9H1K0	A0A024R6A3 A0A0S2Z4D2 P49768
PDB IDs		1YZM 1Z0J 1Z0K	2KR6 4UIS 5A63 5FN2 5FN3 5FN4 5FN5 6IDF 6IYC 6LQG 6LR4 7C9I 7D8X
Enriched GO Terms of Interacting Partners?
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