PSEN1 and LRRC74A

		PSEN1	LRRC74A
Description		presenilin 1	leucine rich repeat containing 74A
Image			No pdb structure
GO Annotations	Cellular Component	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	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	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		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
Diseases		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		Apolipoprotein B levels ( 32203549) Glycated hemoglobin levels ( 34059833) Red cell distribution width ( 32888494) Refractive error ( 32231278) Reticulocyte fraction of red cells ( 32888494)	Type 2 diabetes ( 32499647)
Interacting Genes		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		5663	145497
HPRD ID		00087	12621
Ensembl ID		ENSG00000080815	ENSG00000100565
Uniprot IDs		A0A024R6A3 A0A0S2Z4D2 P49768	A0A8I5KUH5 A0A8I5KW16 Q0VAA2
PDB IDs		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
Enriched GO Terms of Interacting Partners?		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	Positive Regulation Of L-glutamate Import Across Plasma Membrane Sequestering Of Calcium Ion Synaptic Vesicle Targeting Protein Catabolic Process At Postsynapse Smooth Endoplasmic Reticulum Calcium Ion Homeostasis Positive Regulation Of Amyloid Fibril Formation Embryonic Morphogenesis Cajal-Retzius Cell Differentiation Negative Regulation Of Core Promoter Binding Gamma-secretase Complex Aspartic Endopeptidase Activity, Intramembrane Cleaving Growth Factor Receptor Binding Negative Regulation Of Transcription Regulatory Region DNA Binding Astrocyte Activation Involved In Immune Response Lens Fiber Cell Morphogenesis Lymphatic Endothelial Cell Differentiation Embryonic Retina Morphogenesis In Camera-type Eye Regulation Of L-glutamate Import Across Plasma Membrane Choline Transport Ciliary Rootlet Notch Receptor Processing Amyloid-beta Formation Skin Morphogenesis Endoplasmic Reticulum Calcium Ion Homeostasis Amyloid Precursor Protein Catabolic Process Vesicle Targeting Myeloid Dendritic Cell Differentiation Regulation Of Receptor Recycling Membrane Protein Ectodomain Proteolysis Positive Regulation Of Receptor Recycling Neuron Projection Maintenance Regulation Of Amyloid Fibril Formation Brain Morphogenesis Smooth Endoplasmic Reticulum L-glutamate Import Across Plasma Membrane Amyloid-beta Metabolic Process Regulation Of Synaptic Vesicle Cycle Negative Regulation Of DNA Binding Astrocyte Activation Regulation Of Resting Membrane Potential Positive Regulation Of Amino Acid Transport Dorsal/ventral Neural Tube Patterning Positive Regulation Of Glycolytic Process Aspartic-type Endopeptidase Activity Regulation Of Transcription Regulatory Region DNA Binding Amyloid Precursor Protein Metabolic Process Neural Retina Development Anatomical Structure Formation Involved In Morphogenesis Cerebral Cortex Neuron Differentiation Hepatocyte Differentiation
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