HPS1 and PSEN2

Data Source:
BioGRID (two hybrid)

		HPS1	PSEN2
Description		HPS1 biogenesis of lysosomal organelles complex 3 subunit 1	presenilin 2
Image		No pdb structure	No pdb structure
GO Annotations	Cellular Component	Cytoplasm Lysosome Cytosol BLOC-3 Complex Cytoplasmic Vesicle	Golgi Membrane Kinetochore Nucleus Nuclear Inner Membrane Mitochondrial Inner Membrane Lysosomal Membrane Endoplasmic Reticulum Endoplasmic Reticulum Membrane Golgi Apparatus Centrosome Plasma Membrane Integral Component Of Plasma Membrane Cell Cortex Cell Surface Membrane Apical Plasma Membrane Z Disc Growth Cone Neuromuscular Junction Protein-containing Complex Ciliary Rootlet Neuronal Cell Body Dendritic Shaft Membrane Raft Perinuclear Region Of Cytoplasm Gamma-secretase Complex
	Molecular Function	Guanyl-nucleotide Exchange Factor Activity Protein Binding Protein Dimerization Activity	Endopeptidase Activity Protein Binding Aspartic Endopeptidase Activity, Intramembrane Cleaving
	Biological Process	Lysosome Organization Visual Perception Vesicle-mediated Transport Regulation Of Catalytic Activity Response To Stimulus Melanosome Assembly	Membrane Protein Ectodomain Proteolysis Calcium Ion Transport Notch Receptor Processing Protein Processing Membrane Protein Intracellular Domain Proteolysis Amyloid-beta Formation 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
Pathways		RAB GEFs exchange GTP for GDP on RABs	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
Drugs
Diseases		Hermansky-Pudlak syndrome (HPS)	Alzheimer's disease (AD)
GWAS		Bitter non-alcoholic beverage consumption ( 31046077) Metabolite levels ( 23823483) Obesity-related traits ( 23251661)	Heel bone mineral density ( 30598549) Refractive error ( 32231278)
Interacting Genes		2 interacting genes: HPS4 PSEN2	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
Entrez ID		3257	5664
HPRD ID		05403	02860
Ensembl ID		ENSG00000107521	ENSG00000143801
Uniprot IDs		A0A0S2Z3U1 A0A0S2Z3U9 Q658M9 Q92902	P49810
PDB IDs
Enriched GO Terms of Interacting Partners?
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