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QuickView for PSEN1 (gene)


Gene Symbol:
PSEN1 Homo sapiens Homo sapiens
Full name:
presenilin 1
Synonyms:
AD3, FAD, PS-1, PS1, S182, presenilin-1, presenilin-1 isoform I-467
Genomic Location:
Chr 14: 72672932-72756862
Description:
Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postula...
Orthologs:
Mus musculus Rattus norvegicus D. melanogaster C. elegans Macaca mulatta Bos taurus Danio rerio Gallus gallus Canis lupus familiaris Pan troglodytes
External Links:
Entrez Gene
Transcription Factor
Binding Sites:
miRNA binding sites
(Source: TargetScan):
Cytogenetic Map:
chr 14
14q24.2





GO Molecular Function

beta-catenin binding | cadherin binding | passive transmembrane transporter activity | transmembrane transporter activity | aspartic-type peptidase activity | hydrolase activity | catalytic activity | protein domain specific binding | cation transmembrane transporter activity | transporter activity | calcium ion transmembrane transporter activity | ion transmembrane transporter activity | aspartic endopeptidase activity, intramembrane cleaving | cell adhesion molecule binding | protein binding | aspartic-type endopeptidase activity | metal ion transmembrane transporter activity | cation channel activity | inorganic cation transmembrane transporter activity | endopeptidase activity | PDZ domain binding | channel activity | calcium channel activity | ion channel activity | peptidase activity | substrate-specific channel activity

GO Biological Process

positive regulation of immune response | synaptic vesicle exocytosis | negative regulation of signaling receptor activity | negative regulation of phosphorylation | brain development | membrane protein proteolysis | limb development | regulation of supramolecular fiber organization | Notch signaling pathway | positive regulation of macromolecule biosynthetic process | regulation of intracellular protein transport | exocytosis | positive regulation of cellular component organization | cell motility | regulation of cell morphogenesis | negative regulation of core promoter binding | regulation of neurogenesis | neurotransmitter secretion | immune response-regulating signaling pathway | neutrophil activation | regulation of cellular localization | intracellular signal transduction | positive regulation of apoptotic process | proteolysis | regulation of cell development | regulation of localization | morphogenesis of an epithelium | macroautophagy | modulation of age-related behavioral decline | regulation of programmed cell death | eye development | establishment of localization | immune response-regulating cell surface receptor signaling pathway | amyloid-beta formation | regulation of immune system process | myeloid cell differentiation | astrocyte development | neuron death | negative regulation of neuron death | neuron migration | negative regulation of cellular process | negative regulation of kinase activity | neural tube patterning | positive regulation of developmental process | regulation of MAP kinase activity | protein processing | negative regulation of RNA biosynthetic process | embryonic appendage morphogenesis | regulation of protein import | cell differentiation | immune response-activating cell surface receptor signaling pathway | positive regulation of proteasomal ubiquitin-dependent protein catabolic process | organic cation transport | T cell receptor signaling pathway | positive regulation of receptor recycling | nervous system development | positive regulation of protein catabolic process | negative regulation of protein phosphorylation | cellular chemical homeostasis | neurogenesis | positive regulation of phosphate metabolic process | generation of neurons | intracellular transport | negative regulation of proteolysis | pattern specification process | regulation of neuron death | neural retina development | positive regulation of cellular biosynthetic process | cellular process | astrocyte activation involved in immune response | secretion | cell fate specification | negative regulation of axonogenesis | leukocyte degranulation | establishment of organelle localization | localization | cellular homeostasis | epithelial tube morphogenesis | negative regulation of ubiquitin-dependent protein catabolic process | negative regulation of receptor-mediated endocytosis | limb morphogenesis | regulation of ubiquitin-protein transferase activity | protein transport | heart morphogenesis | passive transmembrane transporter activity | forebrain cell migration | negative regulation of signaling | metal ion transport | neuron projection maintenance | chemical synaptic transmission | neuron development | central nervous system neuron differentiation | determination of left/right symmetry | Cajal-Retzius cell differentiation | cerebral cortex neuron differentiation | immune system development | negative regulation of nucleic acid-templated transcription | positive regulation of protein kinase activity | macromolecule localization | negative regulation of apoptotic process | regulation of proteolysis | positive regulation of catalytic activity | myeloid dendritic cell differentiation | positive regulation of nitrogen compound metabolic process | regulation of neuron projection development | regulation of canonical Wnt signaling pathway | establishment of localization in cell | negative regulation of cellular metabolic process | regulation of resting membrane potential | tissue development | regulation of binding | regulation of cell differentiation | negative regulation of apoptotic signaling pathway | glycoprotein biosynthetic process | regulation of immune response | regulation of cellular process | leukocyte activation | regulation of apoptotic process | regulation of metabolic process | negative regulation of ubiquitin-protein transferase activity | gliogenesis | catabolic process | organelle localization | transmembrane transporter activity | aspartic-type peptidase activity | positive regulation of cellular protein metabolic process | epithelium development | cellular response to organonitrogen compound | negative regulation of epidermal growth factor receptor signaling pathway | cellular component organization | negative regulation of cell morphogenesis involved in differentiation | calcium ion homeostasis | negative regulation of cellular protein catabolic process | positive regulation of protein binding | T cell activation | head development | positive regulation of cellular protein catabolic process | response to stimulus | thymus development | vasculature development | regulation of cellular protein localization | embryonic limb morphogenesis | neutrophil degranulation | regulation of peptidyl-tyrosine phosphorylation | skin morphogenesis | positive regulation of immune system process | positive regulation of protein metabolic process | regulation of cellular protein catabolic process | determination of heart left/right asymmetry | response to stress | membrane protein ectodomain proteolysis | leukocyte activation involved in immune response | negative regulation of protein kinase activity | positive regulation of cellular protein localization | regulation of response to drug | negative regulation of neuron projection development | regulation of protein ubiquitination | tube morphogenesis | response to peptide | telencephalon cell migration | hematopoietic progenitor cell differentiation | Notch receptor processing, ligand-dependent | programmed cell death | regulation of transcription regulatory region DNA binding | positive regulation of proteolysis involved in cellular protein catabolic process | cellular localization | divalent metal ion transport | secretion by cell | cardiovascular system development | regulation of neurotransmitter uptake | positive regulation of proteolysis | cellular nitrogen compound metabolic process | immune response-activating signal transduction | negative regulation of transport | regulation of DNA binding | carbohydrate derivative biosynthetic process | regulation of protein transport | myeloid dendritic cell activation | brain morphogenesis | negative regulation of metabolic process | positive regulation of protein serine/threonine kinase activity | positive regulation of RNA biosynthetic process | hemopoiesis | cellular component assembly | protein modification process | macromolecule glycosylation | regulation of peptide transport | modulation of chemical synaptic transmission | cellular biosynthetic process | dorsal/ventral pattern formation | embryo development | macromolecule modification | vesicle targeting | cell-cell signaling | activation of protein kinase activity | regulation of intracellular transport | metal ion homeostasis | blood vessel development | anterior/posterior pattern specification | regulation of nucleic acid-templated transcription | regulation of membrane potential | leukocyte differentiation | regulation of neurotransmitter levels | locomotion | response to nitrogen compound | negative regulation of neuron apoptotic process | apoptotic process | organelle assembly | synaptic vesicle cycle | regulation of protein tyrosine kinase activity | system development | nitrogen compound metabolic process | regulation of signal transduction | smooth endoplasmic reticulum calcium ion homeostasis | autophagosome organization | negative regulation of phosphate metabolic process | positive regulation of neuron projection development | astrocyte activation | multicellular organism development | negative regulation of catalytic activity | cell migration | regulation of synaptic transmission, glutamatergic | calcium ion transmembrane transport | regulation of MAPK cascade | learning or memory | regulation of axonogenesis | cellular response to DNA damage stimulus | leukocyte mediated immunity | regulation of catalytic activity | regulation of protein serine/threonine kinase activity | regulation of phosphorylation | ion transmembrane transport | telencephalon development | regulation of receptor-mediated endocytosis | determination of bilateral symmetry | regulation of neuron differentiation | regulation of gene expression | organic substance transport | cellular response to stress | nervous system process | cellular response to peptide | synaptic signaling | cation transmembrane transporter activity | positive regulation of intracellular protein transport | myeloid leukocyte differentiation | embryonic heart tube morphogenesis | regulation of protein import into nucleus, translocation | positive regulation of cellular metabolic process | positive regulation of protein phosphorylation | cellular ion homeostasis | animal organ morphogenesis | mitochondrial transport | positive regulation of ion transmembrane transport | regulation of protein localization to nucleus | regulation of nitrogen compound metabolic process | neuron apoptotic process | positive regulation of cell projection organization | peptide transport | positive regulation of intracellular signal transduction | negative regulation of DNA binding | cellular amide metabolic process | vesicle-mediated transport | regulation of transcription by RNA polymerase II | calcium ion transmembrane transporter activity | response to oxidative stress | synapse organization | ion transmembrane transporter activity | negative regulation of binding | positive regulation of cell differentiation | cognition | establishment of vesicle localization | cell proliferation | membrane protein intracellular domain proteolysis | regulation of L-glutamate import across plasma membrane | positive regulation of protein localization to nucleus | biosynthetic process | neural tube development | regulation of cellular protein metabolic process | positive regulation of proteasomal protein catabolic process | negative regulation of transcription regulatory region DNA binding | glial cell differentiation | T cell activation involved in immune response | regulated exocytosis | heart looping | protein maturation | regulation of apoptotic signaling pathway | skin development | cerebral cortex cell migration | positive regulation of dendritic spine development | post-embryonic development | cation homeostasis | sensory organ development | vacuole organization | autophagy | aspartic endopeptidase activity, intramembrane cleaving | chordate embryonic development | cellular cation homeostasis | cell communication | regulation of cellular metabolic process | regulation of protein kinase activity | regulation of core promoter binding | amyloid precursor protein catabolic process | positive regulation of response to drug | regulation of neuron apoptotic process | skeletal system morphogenesis | astrocyte differentiation | cell activation involved in immune response | activation of MAPKK activity | cellular response to amyloid-beta | myeloid cell activation involved in immune response | regulation of protein metabolic process | dorsal/ventral neural tube patterning | positive regulation of signal transduction | neutrophil activation involved in immune response | heart development | cellular calcium ion homeostasis | homeostatic process | positive regulation of establishment of protein localization | regulation of protein phosphorylation | peptide metabolic process | embryo development ending in birth or egg hatching | regulation of RNA metabolic process | negative regulation of protein ubiquitination | positive regulation of transport | cerebral cortex development | embryonic morphogenesis | positive regulation of dendrite development | positive regulation of amyloid fibril formation | lymphocyte activation | positive regulation of molecular function | regulation of nucleocytoplasmic transport | regulation of proteasomal ubiquitin-dependent protein catabolic process | neuron differentiation | cation transmembrane transport | embryonic organ morphogenesis | regulation of signaling receptor activity | regulation of epidermal growth factor-activated receptor activity | activation of immune response | regulation of cell morphogenesis involved in differentiation | protein metabolic process | regulation of establishment of protein localization | regionalization | positive regulation of protein modification process | response to organic substance | gland development | negative regulation of cell projection organization | tissue morphogenesis | autophagosome assembly | regulation of protein import into nucleus | aspartic-type endopeptidase activity | retina development in camera-type eye | epithelial cell proliferation | regulation of kinase activity | metal ion transmembrane transporter activity | regulation of intracellular signal transduction | embryonic heart tube development | anatomical structure development | cell surface receptor signaling pathway | positive regulation of neurogenesis | negative regulation of endocytosis | Notch receptor processing | cell projection organization | metabolic process | positive regulation of cell development | cell fate commitment | dendritic cell differentiation | positive regulation of supramolecular fiber organization | positive regulation of ubiquitin-dependent protein catabolic process | regulation of protein catabolic process | regulation of RNA biosynthetic process | negative regulation of transcription, DNA-templated | negative regulation of programmed cell death | embryonic organ development | regulation of amyloid fibril formation | regulation of proteasomal protein catabolic process | positive regulation of coagulation | negative regulation of low-density lipoprotein receptor activity | amide transport | regulation of vesicle-mediated transport | calcium ion regulated exocytosis | chemical homeostasis | calcium ion transport | behavior | positive regulation of cell death | cell adhesion | immune response | negative regulation of ERBB signaling pathway | organic substance metabolic process | regulation of epidermal growth factor receptor signaling pathway | positive regulation of neurotransmitter uptake | cell death | negative regulation of biosynthetic process | negative regulation of gene expression | choline transport | positive regulation of amino acid transport | animal organ development | positive regulation of ion transport | forebrain development | negative regulation of neuron differentiation | pallium development | negative regulation of cellular protein metabolic process | gene expression | positive regulation of programmed cell death | positive regulation of kinase activity | ion homeostasis | regulation of Wnt signaling pathway | regulation of phosphate metabolic process | inorganic cation transmembrane transport | synaptic vesicle targeting | regulation of ion transmembrane transport | antigen receptor-mediated signaling pathway | positive regulation of binding | positive regulation of organic acid transport | establishment of protein localization | cell-cell adhesion | positive regulation of intracellular transport | positive regulation of L-glutamate import across plasma membrane | cell activation | positive regulation of MAPK cascade | positive regulation of protein transport | camera-type eye development | cation channel activity | anatomical structure formation involved in morphogenesis | memory | negative regulation of protein catabolic process | negative regulation of protein metabolic process | regulation of dendrite development | positive regulation of protein import into nucleus, translocation | regulation of cell communication | negative regulation of molecular function | negative regulation of signal transduction | transmembrane transport | regulation of dendritic spine development | signaling | somite development | inorganic cation transmembrane transporter activity | response to amyloid-beta | regulation of transcription, DNA-templated | regulation of protein binding | glial cell development | endopeptidase activity | cell development | regulation of ERBB signaling pathway | regulation of endocytosis | negative regulation of peptidyl-tyrosine phosphorylation | synaptic vesicle localization | protein localization | positive regulation of phosphorylation | cellular protein metabolic process | anatomical structure morphogenesis | cation transport | cellular macromolecule biosynthetic process | channel activity | positive regulation of MAP kinase activity | positive regulation of protein import into nucleus | ammonium transport | regulation of nervous system development | regulation of developmental process | regulation of ion transport | endoplasmic reticulum calcium ion homeostasis | segmentation | developmental process | organelle organization | negative regulation of epidermal growth factor-activated receptor activity | calcium channel activity | positive regulation of anion transport | positive regulation of protein import | cellular protein modification process | negative regulation of transcription by RNA polymerase II | tube development | carbohydrate derivative metabolic process | regulation of transport | positive regulation of transcription, DNA-templated | regulation of receptor recycling | neurotransmitter transport | positive regulation of nucleic acid-templated transcription | signal release | neutrophil mediated immunity | response to organonitrogen compound | amyloid-beta metabolic process | cellular metal ion homeostasis | somitogenesis | regulation of anion transport | central nervous system development | protein glycosylation | ion channel activity | glycosylation | positive regulation of metabolic process | regulation of synaptic plasticity | vesicle localization | positive regulation of neuron differentiation | ion transport | regulation of cell projection organization | skeletal system development | immune system process | cellular metabolic process | hematopoietic or lymphoid organ development | peptidase activity | synaptic vesicle transport | cellular response to organic substance | regulation of protein localization | regulation of cell death | negative regulation of protein tyrosine kinase activity | negative regulation of cell death | negative regulation of cell development | circulatory system development | aging | glycoprotein metabolic process | regulation of ubiquitin-dependent protein catabolic process | negative regulation of proteolysis involved in cellular protein catabolic process | divalent inorganic cation homeostasis | positive regulation of nucleocytoplasmic transport | substrate-specific channel activity | negative regulation of cell differentiation | regulation of cellular component organization | positive regulation of signaling | signal transduction | regulation of signaling | amyloid precursor protein metabolic process | positive regulation of gene expression | macromolecule metabolic process | negative regulation of neurogenesis | multicellular organismal process | regulation of phosphorus metabolic process

GO Cellular Component

secretory granule | integral component of membrane | chromosome | intracellular membrane-bounded organelle | synapse | organelle membrane | microtubule organizing center | nuclear membrane | chromosome, centromeric region | cytoplasmic vesicle | cell | organelle outer membrane | smooth endoplasmic reticulum | plasma membrane protein complex | kinetochore | intrinsic component of membrane | cytoplasm | gamma-secretase complex | intracellular organelle | endoplasmic reticulum | membrane microdomain | secretory granule membrane | presynapse | inclusion body | centrosome | Golgi apparatus | nuclear outer membrane-endoplasmic reticulum membrane network | protein-containing complex | secretory vesicle | endomembrane system | endoplasmic reticulum membrane | plasma membrane | nuclear envelope | azurophil granule membrane | membrane raft | vacuole | vesicle | microtubule cytoskeleton | mitochondrion | nuclear outer membrane | lytic vacuole | integral component of plasma membrane | Golgi membrane | membrane-bounded organelle | aggresome | nucleus | organelle | vesicle membrane | lysosome | cell periphery | azurophil granule | outer membrane | rough endoplasmic reticulum | intracellular vesicle | cytoskeleton | intracellular | cell junction | lysosomal membrane | membrane | cytoplasmic vesicle membrane | intrinsic component of plasma membrane | vacuolar membrane