PSEN2 and HPS1

Number of citations of the paper that reports this interaction (PubMedID 21163940)
58

Data Source:
BioGRID (two hybrid)

		PSEN2	HPS1
Description		presenilin 2	HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
Image			No pdb structure
GO Annotations	Cellular Component	Golgi Membrane Kinetochore Nuclear Inner Membrane Early Endosome Endoplasmic Reticulum Endoplasmic Reticulum Membrane Golgi Apparatus Centrosome Plasma Membrane Synaptic Vesicle Membrane Nuclear Membrane Protein-containing Complex Presynaptic Membrane Gamma-secretase Complex Synaptic Membrane	Cytoplasm Lysosome Cytosol BLOC-3 Complex Cytoplasmic Vesicle
	Molecular Function	Protein Binding Peptidase Activity Hydrolase Activity Aspartic Endopeptidase Activity, Intramembrane Cleaving	Guanyl-nucleotide Exchange Factor Activity Protein Binding Protein Dimerization Activity
	Biological Process	Response To Hypoxia Proteolysis Membrane Protein Ectodomain Proteolysis Notch Signaling Pathway Notch Receptor Processing Protein Processing Amyloid-beta Formation Intracellular Signal Transduction Amyloid Precursor Protein Catabolic Process Calcium Ion Homeostasis Regulation Of Calcium Import Into The Mitochondrion Mitochondrion-endoplasmic Reticulum Membrane Tethering	Lysosome Organization Visual Perception Vesicle-mediated Transport Platelet Dense Granule Organization 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 TGFBR3 PTM regulation	RAB GEFs exchange GTP for GDP on RABs
Drugs
Diseases		Alzheimer's disease (AD)	Hermansky-Pudlak syndrome (HPS)
GWAS		Heel bone mineral density ( 30598549) Refractive error ( 32231278)	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	A0A0S2Z3U9 A0A8V8TMQ9 A0A8V8TN94 H0Y4K4 Q92902
PDB IDs		7Y5X 7Y5Z
Enriched GO Terms of Interacting Partners?		Cytosol Notch Signaling Pathway Positive Regulation Of Neuron Apoptotic Process Cell Surface Receptor Signaling Pathway Gamma-secretase Complex Cytoplasm Protein Processing Notch Receptor Processing Amyloid-beta Formation Regulation Of Apoptotic Process Apoptotic Process Programmed Cell Death Cell Death Regulation Of Programmed Cell Death Cysteine-type Endopeptidase Activity Membrane Protein Intracellular Domain Proteolysis Protein Maturation Cellular Response To Staurosporine Plasma Membrane Regulation Of Cell Communication Regulation Of Signaling Cysteine-type Peptidase Activity Pyroptotic Inflammatory Response Luteolysis Endopeptidase Activator Activity Amyloid Precursor Protein Catabolic Process Positive Regulation Of Protein Metabolic Process Organelle Assembly Death-inducing Signaling Complex Amyloid Precursor Protein Metabolic Process Amyloid-beta Metabolic Process Execution Phase Of Apoptosis Golgi Membrane Proteolysis Positive Regulation Of Apoptotic Process Regulation Of Intracellular Signal Transduction Regulation Of Neuron Apoptotic Process Positive Regulation Of Programmed Cell Death Signal Transduction Regulation Of Signal Transduction Membrane Protein Proteolysis Regulation Of Autophagy Positive Regulation Of Proteolysis Cellular Response To Alkaloid Organelle Organization Angiogenesis Negative Regulation Of Programmed Cell Death Ovulation Cycle Process Regulation Of Protein Metabolic Process Regulation Of Smooth Muscle Cell Differentiation	Regulation Of Eye Pigmentation Platelet Dense Granule Positive Regulation Of Eye Pigmentation BLOC-3 Complex Mitochondrion-endoplasmic Reticulum Membrane Tethering Gamma-secretase Complex Regulation Of Calcium Import Into The Mitochondrion Aspartic Endopeptidase Activity, Intramembrane Cleaving Positive Regulation Of Developmental Pigmentation Notch Receptor Processing Amyloid-beta Formation Regulation Of Developmental Pigmentation Membrane Protein Ectodomain Proteolysis Amyloid Precursor Protein Metabolic Process Amyloid-beta Metabolic Process Amyloid Precursor Protein Catabolic Process Melanocyte Differentiation Pigment Cell Differentiation Platelet Dense Granule Organization Melanosome Assembly Membrane Protein Proteolysis Melanosome Organization Positive Regulation Of Establishment Of Protein Localization To Mitochondrion Positive Regulation Of Protein Targeting To Mitochondrion Pigment Granule Organization Regulation Of Protein Targeting To Mitochondrion Nuclear Inner Membrane Synaptic Membrane Lysosome Organization Secretory Granule Organization Organelle Localization By Membrane Tethering Membrane Docking Coagulation Melanosome Blood Coagulation Notch Signaling Pathway Hemostasis Synaptic Vesicle Presynaptic Membrane Regulation Of Calcium Ion Transmembrane Transport
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