PSEN2 and HPS1

Number of citations of the paper that reports this interaction (PMID 21163940)
13

Data Source:
BioGRID (two hybrid)

		PSEN2	HPS1
Gene Name		presenilin 2	Hermansky-Pudlak syndrome 1
Image		No pdb structure	No pdb structure
Gene Ontology Annotations	Cellular Component	Golgi Membrane Kinetochore Nuclear Inner Membrane Mitochondrial Inner Membrane Lysosomal Membrane Endoplasmic Reticulum Endoplasmic Reticulum Membrane Golgi Apparatus Centrosome Cytosol Plasma Membrane Integral Component Of Plasma Membrane Cell Cortex Cell Surface Membrane Apical Plasma Membrane Z Disc Axon Growth Cone Neuromuscular Junction Ciliary Rootlet Ciliary Basal Body Neuronal Cell Body Dendritic Shaft Protein Complex Membrane Raft Perinuclear Region Of Cytoplasm	Cytoplasm Lysosome Integral Component Of Plasma Membrane Cytoplasmic Membrane-bounded Vesicle BLOC-3 Complex
	Molecular Function	Endopeptidase Activity Aspartic-type Endopeptidase Activity Protein Binding	Protein Binding Protein Dimerization Activity
	Biological Process	Response To Hypoxia Cell Fate Specification Somitogenesis Negative Regulation Of Protein Phosphorylation Hair Follicle Development Hematopoietic Progenitor Cell Differentiation T Cell Activation Involved In Immune Response Myeloid Leukocyte Differentiation Membrane Protein Ectodomain Proteolysis Calcium Ion Transport Regulation Of Epidermal Growth Factor-activated Receptor Activity Notch Signaling Pathway Notch Receptor Processing Axon Guidance Memory Protein Transport Protein Processing Dorsal/ventral Neural Tube Patterning Embryonic Limb Morphogenesis Forebrain Development Membrane Protein Intracellular Domain Proteolysis Negative Regulation Of Protein Complex Assembly Negative Regulation Of Protein Binding Endoplasmic Reticulum Calcium Ion Homeostasis Intracellular Signal Transduction Amyloid Precursor Protein Catabolic Process Positive Regulation Of Apoptotic Process Negative Regulation Of Apoptotic Process Positive Regulation Of Catalytic Activity Neurotrophin TRK Receptor Signaling Pathway Ephrin Receptor Signaling Pathway Regulation Of Synaptic Plasticity Lung Alveolus Development Thymus Development Brain Morphogenesis Beta-amyloid Metabolic Process Positive Regulation Of Coagulation T Cell Receptor Signaling Pathway Cardiac Muscle Contraction Apoptotic Signaling Pathway Negative Regulation Of Extrinsic Apoptotic Signaling Pathway Via Death Domain Receptors Positive Regulation Of Extrinsic Apoptotic Signaling Pathway Via Death Domain Receptors	Lysosome Organization Blood Coagulation Visual Perception Melanocyte Differentiation Positive Regulation Of Natural Killer Cell Activation Secretion Of Lysosomal Enzymes Eye Pigmentation Retina Development In Camera-type Eye
Pathways		Signaling by NOTCH1 HD Domain Mutants in Cancer Axon guidance Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant Signaling by NOTCH2 EPH-ephrin mediated repulsion of cells Signaling by NOTCH1 EPH-Ephrin signaling Signaling by NOTCH1 in Cancer Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants FBXW7 Mutants and NOTCH1 in Cancer Signaling by NOTCH4 Regulated proteolysis of p75NTR Signalling by NGF Cell death signalling via NRAGE, NRIF and NADE Signaling by NOTCH p75 NTR receptor-mediated signalling Signaling by ERBB4 NOTCH2 Activation and Transmission of Signal to the Nucleus Activated NOTCH1 Transmits Signal to the Nucleus Nuclear signaling by ERBB4 NRIF signals cell death from the nucleus Signaling by NOTCH1 PEST Domain Mutants in Cancer Signaling by NOTCH3 Constitutive Signaling by NOTCH1 PEST Domain Mutants
Drugs
Diseases
GWAS			Obesity-related traits ( 23251661)
Protein-Protein Interactions		58 interactors: AAMP ACTG1 APH1A APH1B APP 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 HPS1 ICAM5 IFIT3 IFIT5 KCNIP3 KCNIP4 LIPF MAST1 METTL2B MGEA5 NCSTN NOS3 NOTCH1 NOTCH2 NOTCH3 NOTCH4 PDCD4 PSENEN RAB11A RHEB RNF32 SPC24 SRI UBQLN1	2 interactors: HPS4 PSEN2
Entrez ID		5664	3257
HPRD ID		02860	05403
Ensembl ID		ENSG00000143801	ENSG00000107521
Uniprot IDs		P49810	Q658M9 Q92902
PDB IDs
Enriched GO Terms of Interacting Partners?		Notch Receptor Processing Cell Death Death Apoptotic Process Programmed Cell Death Notch Signaling Pathway Regulation Of Apoptotic Process Cell Differentiation Regulation Of Cell Death Cell Development Positive Regulation Of Apoptotic Process Cell Morphogenesis Involved In Differentiation Positive Regulation Of Programmed Cell Death Positive Regulation Of Cell Death Anatomical Structure Morphogenesis Developmental Process Signal Transduction Protein Processing Cellular Response To Stimulus Signaling Execution Phase Of Apoptosis Response To Stimulus Multicellular Organismal Development System Development Cell Communication Anatomical Structure Development Membrane Protein Intracellular Domain Proteolysis Apoptotic Signaling Pathway Cell Morphogenesis Regulation Of Signaling Cell Surface Receptor Signaling Pathway Neuron Differentiation Regulation Of Cellular Process Cellular Component Disassembly Involved In Execution Phase Of Apoptosis Positive Regulation Of Proteolysis Intracellular Receptor Signaling Pathway Response To External Stimulus Cardiovascular System Development Anatomical Structure Formation Involved In Morphogenesis Angiogenesis Positive Regulation Of Metabolic Process Regulation Of Catalytic Activity Negative Regulation Of Programmed Cell Death Regulation Of Cellular Component Organization Positive Regulation Of Peptidase Activity Membrane Protein Proteolysis Positive Regulation Of Catalytic Activity Generation Of Neurons Cell Cycle Negative Regulation Of Cell Death	Positive Regulation Of Eye Pigmentation Regulation Of Eye Pigmentation Amyloid Precursor Protein Catabolic Process Positive Regulation Of Developmental Pigmentation Membrane Protein Intracellular Domain Proteolysis Positive Regulation Of Extrinsic Apoptotic Signaling Pathway Via Death Domain Receptors Membrane Protein Ectodomain Proteolysis Beta-amyloid Metabolic Process Amyloid Precursor Protein Metabolic Process Notch Receptor Processing Regulation Of Developmental Pigmentation Negative Regulation Of Extrinsic Apoptotic Signaling Pathway Via Death Domain Receptors Epithelium Development Regulation Of Epidermal Growth Factor-activated Receptor Activity Endoplasmic Reticulum Calcium Ion Homeostasis Dorsal/ventral Neural Tube Patterning Membrane Protein Proteolysis Positive Regulation Of Coagulation Melanocyte Differentiation Brain Morphogenesis Protein Transport Regulation Of Extrinsic Apoptotic Signaling Pathway Via Death Domain Receptors Establishment Of Protein Localization Neuroepithelial Cell Differentiation Cardiac Muscle Contraction Lung Alveolus Development Negative Regulation Of Protein Binding Lysosome Organization Thymus Development Neural Tube Patterning Regulation Of Protein Tyrosine Kinase Activity Heart Contraction Tissue Development T Cell Activation Involved In Immune Response Developmental Pigmentation Regulation Of Epidermal Growth Factor Receptor Signaling Pathway Regulation Of ERBB Signaling Pathway Protein Localization Somitogenesis Striated Muscle Contraction Positive Regulation Of Extrinsic Apoptotic Signaling Pathway Protein Stabilization Hair Follicle Development Hair Cycle Process Cell Fate Specification Somite Development Negative Regulation Of Binding Ephrin Receptor Signaling Pathway Vacuole Organization Hair Cycle
Tagcloud ?		abeta1 accelerated amyloid apoe4 bace1 becomes casp3 deposits event hallmark hyperphosphorylation increasingly later losses nonetheless nonsynonymous nontransgenic oxys picalm posits precede proof psen1 snps sorl1 sporadic triggers turn unlikely	abnormal ad appear appsw brains damaged excessive find gtpases happ hippocampal impair mfn1 mfn2 mitochondria mitochondrial mitofusin morphology neurogenesis obscure pathogenesis plaque preventive propose prp sh swedish sy5y theanine
Tagcloud (Difference) ?		abeta1 accelerated amyloid apoe4 bace1 becomes casp3 deposits event hallmark hyperphosphorylation increasingly later losses nonetheless nonsynonymous nontransgenic oxys picalm posits precede proof psen1 snps sorl1 sporadic triggers turn unlikely	abnormal ad appear appsw brains damaged excessive find gtpases happ hippocampal impair mfn1 mfn2 mitochondria mitochondrial mitofusin morphology neurogenesis obscure pathogenesis plaque preventive propose prp sh swedish sy5y theanine
Tagcloud (Intersection) ?