ERN1 and PSEN1

Number of citations: 0 (PubMedID 10587643)
Data Source: BioGRID (affinity chromatography technology), HPRD (in vivo, in vitro)

		ERN1	PSEN1
Name		endoplasmic reticulum to nucleus signaling 1	presenilin 1
Structure
GO Annotations	Cellular Component	Nuclear Inner Membrane Cytoplasm Mitochondrion Endoplasmic Reticulum Endoplasmic Reticulum Membrane Membrane Protein-containing Complex Ire1 Complex AIP1-IRE1 Complex IRE1-TRAF2-ASK1 Complex IRE1-RACK1-PP2A Complex	Golgi Membrane Kinetochore Nucleus Nuclear Outer Membrane Nucleoplasm Cytoplasm Mitochondrion Mitochondrial Inner Membrane Lysosomal Membrane Endosome Early Endosome Endoplasmic Reticulum Endoplasmic Reticulum Membrane Smooth Endoplasmic Reticulum Rough Endoplasmic Reticulum Golgi Apparatus Centrosome Plasma Membrane Cell Cortex Synaptic Vesicle Cell Surface Membrane Aggresome Cell Junction Axon Dendrite Growth Cone Cytoplasmic Vesicle Neuromuscular Junction Early Endosome Membrane Nuclear Membrane Protein-containing Complex Ciliary Rootlet Azurophil Granule Membrane Sarcolemma Presynaptic Membrane Cell Projection Neuron Projection Neuronal Cell Body Dendritic Shaft Membrane Raft Synapse Gamma-secretase Complex Synaptic Membrane Postsynapse Glutamatergic Synapse
	Molecular Function	Nucleotide Binding Magnesium Ion Binding Catalytic Activity Endonuclease Activity RNA Endonuclease Activity RNA Nuclease Activity Protein Kinase Activity Protein Serine/threonine Kinase Activity Platelet-derived Growth Factor Receptor Binding Protein Binding ATP Binding Kinase Activity Transferase Activity Hydrolase Activity Enzyme Binding Hsp70 Protein Binding Identical Protein Binding Protein Homodimerization Activity ADP Binding Metal Ion Binding Unfolded Protein Binding Hsp90 Protein Binding Protein Serine Kinase Activity	Endopeptidase Activity Aspartic-type Endopeptidase Activity Calcium Channel Activity Protein Binding Beta-catenin Binding Peptidase Activity Hydrolase Activity PDZ Domain Binding Aspartic Endopeptidase Activity, Intramembrane Cleaving Cadherin Binding ATPase Binding Growth Factor Receptor Binding
	Biological Process	Endothelial Cell Proliferation MRNA Processing RNA Catabolic Process MRNA Catabolic Process Protein Phosphorylation Apoptotic Process Response To Unfolded Protein Negative Regulation Of Gene Expression Regulation Of Macroautophagy Endoplasmic Reticulum Unfolded Protein Response Positive Regulation Of RNA Splicing Cellular Response To Unfolded Protein Response To Endoplasmic Reticulum Stress Cellular Response To Vascular Endothelial Growth Factor Stimulus IRE1-mediated Unfolded Protein Response Positive Regulation Of JNK Cascade MRNA Splicing, Via Endonucleolytic Cleavage And Ligation Intrinsic Apoptotic Signaling Pathway In Response To Endoplasmic Reticulum Stress Cellular Response To Hydrogen Peroxide Cellular Response To Glucose Stimulus Positive Regulation Of Endoplasmic Reticulum Unfolded Protein Response Insulin Metabolic Process Positive Regulation Of Vascular Associated Smooth Muscle Cell Proliferation Positive Regulation Of Response To Endoplasmic Reticulum Stress	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 Myeloid Leukocyte Differentiation Neural Retina Development Protein Glycosylation Proteolysis Membrane Protein Ectodomain Proteolysis Mitochondrial Transport Intracellular Calcium Ion Homeostasis Autophagy Apoptotic Process DNA Damage Response Response To Oxidative Stress Cell Adhesion Notch Signaling Pathway Notch Receptor Processing Brain Development Heart Development Learning Or Memory Memory Post-embryonic Development Gene Expression 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 Cerebral Cortex Development Neurogenesis Neuron Differentiation Embryonic Limb Morphogenesis Forebrain Development Positive Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process Endoplasmic Reticulum Calcium Ion Homeostasis Positive Regulation Of Tumor Necrosis Factor Production Amyloid-beta Formation Segmentation Intracellular Signal Transduction Locomotion Negative Regulation Of Epidermal Growth Factor Receptor Signaling Pathway Positive Regulation Of Protein Import Into Nucleus 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 Negative Regulation Of Neuron Apoptotic Process Skin Morphogenesis Positive Regulation Of Glycolytic Process Positive Regulation Of DNA-templated Transcription 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 Smooth Endoplasmic Reticulum Calcium Ion Homeostasis Protein Maturation Regulation Of Synaptic Transmission, Glutamatergic Calcium Ion Homeostasis Regulation Of Resting Membrane Potential Regulation Of Canonical Wnt Signaling Pathway Positive Regulation Of Dendritic Spine Development Neuron Cellular Homeostasis Calcium Ion Transmembrane Transport Apoptotic Signaling Pathway Cell-cell Adhesion Regulation Of Synaptic Vesicle Cycle L-glutamate Import Across Plasma Membrane Regulation Of Postsynapse Organization Protein Catabolic Process At Postsynapse Cellular Response To Amyloid-beta Negative Regulation Of Core Promoter Binding Positive Regulation Of Amyloid Fibril Formation Neuron Projection Maintenance Negative Regulation Of Ubiquitin-dependent Protein Catabolic Process Negative Regulation Of Apoptotic Signaling Pathway
Pathways		IRE1alpha activates chaperones IRE1alpha activates chaperones	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 TGFBR3 PTM regulation
Drugs		N~2~-1H-benzimidazol-5-yl-N~4~-(3-cyclopropyl-1H-pyrazol-5-yl)pyrimidine-2,4-diamine Fostamatinib	None
Diseases		None	Alzheimer's disease (AD) Frontotemporal lobar degeneration (FTLD), including: Pick disease of brain; Frontotemporal dementia (FTD); Ubiquitin-positive frontotemporal dementia (UP-FTD); Progressive supranuclear palsy type 1 (PSNP1); Inclusion body myopathy with early-onset paget disease and frontotemporal dementia (IBMPFD); Frontotemporal dementia, chromosome 3-linked (FTD3) Acne inversa; Hidradenitis supprativa
GWAS		Chronic inflammatory diseases (ankylosing spondylitis, Crohn's disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy) ( 26974007 ) Liver enzyme levels (alkaline phosphatase) ( 33972514 ) Liver injury in anti-retroviral drug treated HIV ( 28388302 )	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: BAK1 BAX COPS5 HSP90AA1 HSPA5 MAP3K5 P4HB PSEN1 RNF10 SRPK2 STUB1 SYVN1 TAOK3 TNFRSF1A TRAF2	92 interacting genes: ACTN1 AP1M2 APBA1 APH1A APH1B APOE APP BACE1 BCL2 BCL2L1 CASP1 CASP3 CASP4 CASP6 CASP7 CASP8 CDH1 CDK5 CFL1 CIB1 CTNNA1 CTNNB1 CTNND1 CTNND2 CYP2C18 CYP2C8 DLL1 DOCK3 ECSIT EFHD1 EFNB2 ENSA EPB41L3 ERN1 ETFA FBXL12 FBXW7 FGF13 FLNA FLNB GAPDH GCDH GDI1 GFAP GSK3B HERPUD1 HMGB1 ICAM5 ITSN2 JUP KANK2 KCNIP3 KCNIP4 MAPK9 MAPT METTL2B MTCH1 NCSTN NOS3 NOTCH1 NOTCH2 NOTCH3 NOTCH4 OXCT1 PDCD4 PIK3R1 PKP4 PRAM1 PRDX2 PRKACA PRKCZ PSENEN PSMA5 PSMB1 RAB11A RAB3A RAD23A RHEB RMDN3 RNF32 RYR2 SCAF11 SCN1A SLC10A6 ST13 STAMBPL1 TCF7L2 TDP2 TUBA1B UBQLN1 UMPS YME1L1
Entrez ID		2081	5663
HPRD ID		04943	00087
Ensembl ID		ENSG00000178607	ENSG00000080815
Uniprot IDs		O75460	A0A024R6A3 A0A0S2Z4D2 P49768
PDB IDs		2HZ6 3P23 4U6R 4YZ9 4YZC 4YZD 4Z7G 4Z7H 5HGI 6HV0 6HX1 6SHC 6URC 6W39 6W3A 6W3B 6W3C 6W3E 6W3K 6XDB 6XDD 6XDF 7BMK 8UVL	2KR6 4UIS 5A63 5FN2 5FN3 5FN4 5FN5 6IDF 6IYC 6LQG 6LR4 7C9I 7D8X 7Y5T 8IM7 8K8E 8KCO 8KCP 8KCS 8KCT 8KCU 8OQY 8OQZ 8X52 8X53 8X54
GO Terms Enriched among Interactors		Regulation Of Programmed Cell Death Regulation Of Apoptotic Process Response To Endoplasmic Reticulum Stress Regulation Of Response To Endoplasmic Reticulum Stress Cellular Response To Stress Regulation Of IRE1-mediated Unfolded Protein Response Positive Regulation Of Apoptotic Process Positive Regulation Of Programmed Cell Death Intrinsic Apoptotic Signaling Pathway In Response To Endoplasmic Reticulum Stress Protein-folding Chaperone Binding Regulation Of Endoplasmic Reticulum Unfolded Protein Response Positive Regulation Of Macromolecule Metabolic Process Response To Stress Regulation Of Intracellular Signal Transduction Regulation Of Cellular Response To Stress Positive Regulation Of Metabolic Process Apoptotic Signaling Pathway Negative Regulation Of Apoptotic Process Intrinsic Apoptotic Signaling Pathway Negative Regulation Of Programmed Cell Death Intracellular Signal Transduction Protein Catabolic Process Regulation Of Signal Transduction BAK Complex B Cell Negative Selection Regulation Of Apoptotic Signaling Pathway Endoplasmic Reticulum Calcium Ion Homeostasis Regulation Of Protein-containing Complex Assembly Cellular Response To Topologically Incorrect Protein Regulation Of Cell Communication Regulation Of Signaling Protein Modification Process Positive Regulation Of Protein Metabolic Process Post-embryonic Camera-type Eye Morphogenesis IRE1-TRAF2-ASK1 Complex Tumor Necrosis Factor Receptor Superfamily Complex Intracellular Signaling Cassette Protein Metabolic Process Positive Regulation Of Response To Endoplasmic Reticulum Stress Apoptotic Process Apoptotic Process Involved In Blood Vessel Morphogenesis Regulation Of JNK Cascade Cell Death Programmed Cell Death Negative Regulation Of Endoplasmic Reticulum Calcium Ion Concentration Regulation Of Protein Modification Process Post-embryonic Eye Morphogenesis Positive Regulation Of Apoptotic Process Involved In Morphogenesis Chaperone-mediated Autophagy Tumor Necrosis Factor Binding	Regulation Of Cell Communication Regulation Of Programmed Cell Death Regulation Of Signaling Regulation Of Apoptotic Process Plasma Membrane Positive Regulation Of Neuron Apoptotic Process Cell Surface Receptor Signaling Pathway Positive Regulation Of Apoptotic Process Positive Regulation Of Programmed Cell Death Apoptotic Process Regulation Of Protein Localization Regulation Of Cell Development Neuron Projection Development Cytoplasm Regulation Of Cell Differentiation Programmed Cell Death Regulation Of Developmental Process Cell Death Negative Regulation Of Developmental Process Regulation Of Transport Protein Processing Cellular Response To Oxygen-containing Compound Notch Signaling Pathway Cytosol Amyloid-beta Formation Regulation Of Signal Transduction Positive Regulation Of Cell Communication Positive Regulation Of Signaling Regulation Of Neuron Apoptotic Process Positive Regulation Of Signal Transduction Regulation Of Biological Quality Amyloid Precursor Protein Metabolic Process Apoptotic Signaling Pathway Negative Regulation Of Cell Development Cellular Response To Indole-3-methanol Cell Junction Organization Regulation Of Establishment Of Protein Localization Response To Indole-3-methanol Cellular Localization Modulation Of Chemical Synaptic Transmission Cell-cell Junction Regulation Of Synaptic Plasticity Positive Regulation Of Proteolysis Regulation Of Autophagy Regulation Of Multicellular Organismal Process Positive Regulation Of Protein Localization Regulation Of Intracellular Signal Transduction Protein Maturation Regulation Of Developmental Growth Amyloid Precursor Protein Catabolic Process