PSEN2 and HPS1

Number of citations of the paper that reports this interaction (PubMedID 21163940)
33

Data Source:
BioGRID (two hybrid)

		PSEN2	HPS1
Description		presenilin 2	HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
Image		No pdb structure	No pdb structure
GO Annotations	Cellular Component	Golgi Membrane Kinetochore Nucleus Nuclear Inner Membrane Mitochondrial Inner Membrane Lysosomal Membrane Early Endosome Endoplasmic Reticulum Endoplasmic Reticulum Membrane Golgi Apparatus Centrosome Plasma Membrane Integral Component Of Plasma Membrane Cell Cortex Synaptic Vesicle Cell Surface Membrane Apical Plasma Membrane Z Disc Axon Growth Cone Neuromuscular Junction Protein-containing Complex Ciliary Rootlet Neuronal Cell Body Dendritic Shaft Membrane Raft Perinuclear Region Of Cytoplasm Integral Component Of Presynaptic Membrane	Cytoplasm Lysosome Cytosol BLOC-3 Complex Cytoplasmic Vesicle
	Molecular Function	Endopeptidase Activity Protein Binding Aspartic Endopeptidase Activity, Intramembrane Cleaving	Guanyl-nucleotide Exchange Factor Activity Protein Binding Protein Dimerization Activity
	Biological Process	Response To Hypoxia Membrane Protein Ectodomain Proteolysis Calcium Ion Transport Notch Receptor Processing Protein Processing Membrane Protein Intracellular Domain Proteolysis Notch Receptor Processing, Ligand-dependent Intracellular Signal Transduction Amyloid Precursor Protein Catabolic Process Positive Regulation Of Apoptotic Process Negative Regulation Of Apoptotic Process Positive Regulation Of Catalytic Activity Ephrin Receptor Signaling Pathway Amyloid-beta Metabolic Process Regulation Of Calcium Import Into The Mitochondrion Mitochondrion-endoplasmic Reticulum Membrane Tethering	Lysosome Organization Visual Perception Response To Stimulus Melanosome Assembly
Pathways		Nuclear signaling by ERBB4 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 NOTCH3 Activation and Transmission of Signal to the Nucleus NOTCH4 Activation and Transmission of Signal to the Nucleus Noncanonical activation of NOTCH3	RAB GEFs exchange GTP for GDP on RABs
Drugs
Diseases		Alzheimer's disease (AD)	Hermansky-Pudlak syndrome (HPS)
GWAS		Heel bone mineral density ( 30598549)	Bitter non-alcoholic beverage consumption ( 31046077) Metabolite levels ( 23823483) Obesity-related traits ( 23251661)
Interacting Genes		61 interacting genes: AAMP ACTG1 AP1G1 APH1A APH1B APP AURKA BCL2L1 CAPN1 CASP1 CASP3 CASP6 CASP7 CASP8 CEP55 CFLAR CHKA CIB1 CSNK1A1 CSNK1D CSNK2A1 CTNNB1 CTNND2 DNAJB1 DOCK3 ECD EID1 ELAVL1 EVI5L EXOC6 FBXL12 FHL2 FLNA FLNB GCDH GFAP HLA-DMB HPS1 ICAM5 IFIT3 IFIT5 KCNIP3 KCNIP4 LIPF MAST1 METTL2B NCSTN NOS3 NOTCH1 NOTCH2 NOTCH3 NOTCH4 OGA PDCD4 PSENEN RAB11A RHEB RNF32 SPC24 SRI UBQLN1	2 interacting genes: HPS4 PSEN2
Entrez ID		5664	3257
HPRD ID		02860	05403
Ensembl ID		ENSG00000143801	ENSG00000107521
Uniprot IDs		P49810	A0A0S2Z3U1 A0A0S2Z3U9 Q658M9 Q92902
PDB IDs
Enriched GO Terms of Interacting Partners?
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