Entity Details

Primary name PSEN1
Entity type gene
Source Source Link

Details

PrimaryID5663
RefseqGeneNG_007386
SymbolPSEN1
Namepresenilin 1
Chromosome14
Location14q24.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-19
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsPSN1_HUMAN

GO terms

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GOName
GO:0000045 autophagosome assembly
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000139 Golgi membrane
GO:0000186 obsolete activation of MAPKK activity
GO:0000776 kinetochore
GO:0001568 blood vessel development
GO:0001708 cell fate specification
GO:0001756 somitogenesis
GO:0001764 neuron migration
GO:0001921 positive regulation of receptor recycling
GO:0001947 heart looping
GO:0002038 positive regulation of L-glutamate import across plasma membrane
GO:0002244 hematopoietic progenitor cell differentiation
GO:0002265 astrocyte activation involved in immune response
GO:0002286 T cell activation involved in immune response
GO:0003407 neural retina development
GO:0004175 endopeptidase activity
GO:0004190 aspartic-type endopeptidase activity
GO:0005262 calcium channel activity
GO:0005634 nucleus
GO:0005640 nuclear outer membrane
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005765 lysosomal membrane
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005790 smooth endoplasmic reticulum
GO:0005791 rough endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005813 centrosome
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005938 cell cortex
GO:0006486 protein glycosylation
GO:0006509 membrane protein ectodomain proteolysis
GO:0006816 calcium ion transport
GO:0006839 mitochondrial transport
GO:0006974 cellular response to DNA damage stimulus
GO:0006979 response to oxidative stress
GO:0007175 negative regulation of epidermal growth factor-activated receptor activity
GO:0007220 Notch receptor processing
GO:0007611 learning or memory
GO:0007613 memory
GO:0008013 beta-catenin binding
GO:0008021 synaptic vesicle
GO:0009791 post-embryonic development
GO:0009986 cell surface
GO:0010468 regulation of gene expression
GO:0010628 positive regulation of gene expression
GO:0010629 negative regulation of gene expression
GO:0010975 regulation of neuron projection development
GO:0015031 protein transport
GO:0015871 choline transport
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016080 synaptic vesicle targeting
GO:0016235 aggresome
GO:0016324 apical plasma membrane
GO:0016485 protein processing
GO:0021549 cerebellum development
GO:0021795 cerebral cortex cell migration
GO:0021870 Cajal-Retzius cell differentiation
GO:0021904 dorsal/ventral neural tube patterning
GO:0030018 Z disc
GO:0030054 cell junction
GO:0030165 PDZ domain binding
GO:0030326 embryonic limb morphogenesis
GO:0030426 growth cone
GO:0031293 membrane protein intracellular domain proteolysis
GO:0031594 neuromuscular junction
GO:0031901 early endosome membrane
GO:0031965 nuclear membrane
GO:0032092 positive regulation of protein binding
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0032469 endoplasmic reticulum calcium ion homeostasis
GO:0032760 positive regulation of tumor necrosis factor production
GO:0032991 protein-containing complex
GO:0034205 amyloid-beta formation
GO:0035253 ciliary rootlet
GO:0035333 Notch receptor processing, ligand-dependent
GO:0035556 intracellular signal transduction
GO:0035577 azurophil granule membrane
GO:0042307 positive regulation of protein import into nucleus
GO:0042325 regulation of phosphorylation
GO:0042327 positive regulation of phosphorylation
GO:0042383 sarcolemma
GO:0042500 aspartic endopeptidase activity, intramembrane cleaving
GO:0042982 amyloid precursor protein metabolic process
GO:0042987 amyloid precursor protein catabolic process
GO:0043005 neuron projection
GO:0043011 myeloid dendritic cell differentiation
GO:0043025 neuronal cell body
GO:0043065 positive regulation of apoptotic process
GO:0043066 negative regulation of apoptotic process
GO:0043085 positive regulation of catalytic activity
GO:0043198 dendritic shaft
GO:0043312 neutrophil degranulation
GO:0043406 positive regulation of MAP kinase activity
GO:0043524 negative regulation of neuron apoptotic process
GO:0043589 skin morphogenesis
GO:0045121 membrane raft
GO:0045296 cadherin binding
GO:0045821 positive regulation of glycolytic process
GO:0045893 positive regulation of transcription, DNA-templated
GO:0048013 ephrin receptor signaling pathway
GO:0048143 astrocyte activation
GO:0048167 regulation of synaptic plasticity
GO:0048471 perinuclear region of cytoplasm
GO:0048538 thymus development
GO:0048666 neuron development
GO:0048705 skeletal system morphogenesis
GO:0048854 brain morphogenesis
GO:0050435 amyloid-beta metabolic process
GO:0050673 epithelial cell proliferation
GO:0050771 negative regulation of axonogenesis
GO:0050808 synapse organization
GO:0050820 positive regulation of coagulation
GO:0050852 T cell receptor signaling pathway
GO:0051117 ATPase binding
GO:0051208 sequestering of calcium ion
GO:0051402 neuron apoptotic process
GO:0051444 negative regulation of ubiquitin-protein transferase activity
GO:0051563 smooth endoplasmic reticulum calcium ion homeostasis
GO:0051966 regulation of synaptic transmission, glutamatergic
GO:0060075 regulation of resting membrane potential
GO:0060828 regulation of canonical Wnt signaling pathway
GO:0060999 positive regulation of dendritic spine development
GO:0070765 gamma-secretase complex
GO:0070851 growth factor receptor binding
GO:0090647 modulation of age-related behavioral decline
GO:0098609 cell-cell adhesion
GO:0098712 L-glutamate import across plasma membrane
GO:0099056 integral component of presynaptic membrane
GO:1904646 cellular response to amyloid-beta
GO:1904797 negative regulation of core promoter binding
GO:1905908 positive regulation of amyloid fibril formation
GO:1990535 neuron projection maintenance
GO:2000059 negative regulation of ubiquitin-dependent protein catabolic process
GO:2001234 negative regulation of apoptotic signaling pathway

Diseases

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Interactions

252 interactions

InteractorPartnerSourcesPublicationsLink
PSEN1FLNBBioGRID, HPRD, MINT9437013 details
PSEN1FLNAHPRD, MINT9437013 details
PSEN1BCL2L1BioGRID, HPRD, MINT10446169 details
PSEN1UBQLN1BioGRID, HPRD, MINT11076969 16813565 16815845 details
PSEN1PKP4BioGRID, HPRD, MINT10037471 10092585 details
PSEN1APBA1HPRD, IntAct, MINT11083918 12196555 16007100 details
PSEN1GSK3BBioGRID, HPRD, MINT10997338 11104755 11193155 16814287 17360711 details
PSEN1NCSTNBioGRID, HPRD, IntAct, MINT, UniProt10993067 12297508 12471034 12603837 14572442 15257293 15474363 16641999 17911105 18201567 18667537 28351972 29611543 30559186 details
PSEN1APPBioGRID, DIP, HPRD, IntAct10593990 11083918 21115843 21163940 23209290 28351972 32814053 9223340 details
PSEN1ECSITBioGRID, IntAct21163940 details
PSEN1ST13BioGRID, IntAct21163940 details
PSEN1CDC37BioGRID, IntAct21163940 details
PSEN1GCDHBioGRID, IntAct21163940 details
PSEN1EPB41L3BioGRID, IntAct21163940 details
PSEN1ACTN1BioGRID, IntAct21163940 details
PSEN1EFHD1BioGRID, IntAct21163940 details
PSEN1GAPDHBioGRID, IntAct21163940 details
PSEN1RMDN3BioGRID, IntAct21163940 details
PSEN1ENSABioGRID, IntAct21163940 details
PSEN1CFL1BioGRID, IntAct21163940 details
PSEN1UMPSBioGRID, IntAct21163940 details
PSEN1OXCT1BioGRID, IntAct21163940 details
PSEN1CDK5BioGRID, HPRD, IntAct12056836 21163940 details
PSEN1KANK2BioGRID, IntAct21163940 details
PSEN1PRAM1BioGRID, IntAct21163940 details
PSEN1RAB3ABioGRID, IntAct21163940 details
PSEN1PSEN2BioGRID, IntAct12471034 15474363 21163940 details
PSEN1APOEBioGRID, IntAct21163940 details
PSEN1TDP2BioGRID, IntAct21988832 details
PSEN1HTRA2IntAct10971580 details
PSEN1SLC10A6BioGRID, IntAct32296183 details
PSEN1PSENENBioGRID, HPRD, IntAct, UniProt12198112 12639958 14572442 15322109 15474363 21115843 22074918 30559186 32296183 details
PSEN1APBA2UniProt29578633 details
PSEN1PSMB1BioGRID, UniProt10527805 25959826 details
PSEN1PSMA5BioGRID, UniProt10527805 25959826 details
PSEN1PSEN1BioGRID, HPRD, UniProt12535650 15474363 25959826 9452432 details
PSEN1TMBIM6UniProt30559186 details
PSEN1BACE1HPRD, UniProt12901838 details
PSEN1FMR1IntAct32814053 details
PSEN1RNF112IntAct32814053 details
PSEN1AP2B1IntAct32814053 details
PSEN1H3C1IntAct32814053 details
PSEN1H3C4IntAct32814053 details
PSEN1H3C3IntAct32814053 details
PSEN1H3C6IntAct32814053 details
PSEN1H3C11IntAct32814053 details
PSEN1H3C8IntAct32814053 details
PSEN1H3C12IntAct32814053 details
PSEN1H3C10IntAct32814053 details
PSEN1H3C2IntAct32814053 details
PSEN1H3C7IntAct32814053 details
PSEN1HYAL2IntAct32814053 details
PSEN1PLPP1IntAct32814053 details
PSEN1PLK1IntAct32814053 details
PSEN1TNFRSF11BIntAct32814053 details
PSEN1FTLIntAct32814053 details
PSEN1CPEIntAct32814053 details
PSEN1RNF111IntAct32814053 details
PSEN1OOSP2IntAct32814053 details
PSEN1ZMAT2IntAct32814053 details
PSEN1SGSM1IntAct32814053 details
PSEN1MRFAP1IntAct32814053 details
PSEN1LDHAL6BIntAct32814053 details
PSEN1MGARPIntAct32814053 details
PSEN1KRTAP9-2IntAct32814053 details
PSEN1WDR61IntAct32814053 details
PSEN1DCLRE1BIntAct32814053 details
PSEN1KBTBD4IntAct32814053 details
PSEN1OTUB1IntAct32814053 details
PSEN1DALRD3IntAct32814053 details
PSEN1SPAG8IntAct32814053 details
PSEN1RYBPIntAct32814053 details
PSEN1PDZK1IP1IntAct32814053 details
PSEN1IQSEC1IntAct32814053 details
PSEN1FEZ2IntAct32814053 details
PSEN1CTNNB1BioGRID, HPRD10092585 10341227 11168528 11193155 11226248 12070348 16126725 16306047 17360711 9738936 9852041 details
PSEN1GFAPBioGRID, HPRD12058025 details
PSEN1ICAM5BioGRID, HPRD11719200 details
PSEN1BCL2BioGRID, HPRD10521466 15905180 details
PSEN1NOTCH1BioGRID, HPRD10077672 10206645 12374741 28351972 details
PSEN1CTNND1BioGRID, HPRD10208590 11226248 28069439 details
PSEN1KCNIP4BioGRID11847232 details
PSEN1CIB1BioGRID, HPRD10366599 details
PSEN1YME1L1BioGRID, HPRD12214059 details
PSEN1AP1M2BioGRID21163940 details
PSEN1CYP2C18BioGRID21163940 details
PSEN1CYP2C8BioGRID21163940 details
PSEN1FBXL12BioGRID21163940 details
PSEN1NOS3BioGRID21163940 details
PSEN1PDCD4BioGRID21163940 details
PSEN1PRDX2BioGRID21163940 details
PSEN1RAD23ABioGRID21163940 details
PSEN1RHEBBioGRID21163940 details
PSEN1STAMBPL1BioGRID21163940 details
PSEN1RNF32BioGRID21163940 details
PSEN1FGF13BioGRID21163940 details
PSEN1HMGB1BioGRID21163940 details
PSEN1ITSN2BioGRID21163940 details
PSEN1SCN1ABioGRID21163940 details
PSEN1TUBA1BBioGRID21163940 details
PSEN1ETFABioGRID10527805 details
PSEN1RYR2BioGRID24029002 details
PSEN1MAPK9BioGRID18667537 details
PSEN1FKBP8BioGRID15905180 details
PSEN1JUPBioGRID, HPRD11226248 16306047 19114997 details
PSEN1RAB11AHPRD10369872 details
PSEN1CTNND2HPRD10037471 10208590 9223106 details
PSEN1METTL2BHPRD11738826 details
PSEN1DOCK3HPRD10854253 details
PSEN1MTCH1HPRD, IntAct10551805 12377771 details
PSEN1CDH1BioGRID, MINT10635315 11953314 16126725 19114997 details
PSEN1TMED10BioGRID, IntAct, UniProt16641999 25959826 details
PSEN1APH1ABioGRID, DIP, HPRD, UniProt12297508 12471034 14572442 15474363 17911105 18667537 26280335 30559186 details
PSEN1TREM2UniProt29611543 details
PSEN1ERLIN2BioGRID, UniProt22771797 25959826 details
PSEN1FLOT2UniProt25893612 details
PSEN1STXBP1UniProt25893612 details
PSEN1GAP43UniProt25893612 details
PSEN1SLC2A3UniProt25893612 details
PSEN1SLC2A13UniProt25893612 details
PSEN1ATP9AUniProt25893612 details
PSEN1HCN2UniProt25893612 details
PSEN1NDUFS7UniProt25893612 details
PSEN1CNTNAP1UniProt25893612 details
PSEN1CLSTN1BioGRID15037614 details
PSEN1KCNIP3BioGRID, HPRD10854253 12207970 9771752 details
PSEN1FBXW7BioGRID, HPRD12354302 details
PSEN1CTNNA1BioGRID, HPRD10635315 details
PSEN1TCF7L2BioGRID11504726 details
PSEN1HERPUD1BioGRID, HPRD11799129 14550564 details
PSEN1ERN1BioGRID, HPRD10587643 details
PSEN1MAPTBioGRID, HPRD9689133 details
PSEN1TRAF6BioGRID18996842 19012753 23707529 24399296 details
PSEN1IRAK2BioGRID18996842 details
PSEN1APH1BBioGRID, HPRD12471034 15474363 details
PSEN1TGFBR1BioGRID24399296 details
PSEN1UBCBioGRID24399296 25959826 details
PSEN1GSAPBioGRID20811458 details
PSEN1PTGER4BioGRID19407341 details
PSEN1CDH2BioGRID20696212 details
PSEN1NOTCH4HPRD11518718 details
PSEN1NOTCH2HPRD11518718 details
PSEN1NOTCH3HPRD11518718 details
PSEN1CASP4HPRD10069390 details
PSEN1EFNB2HPRD16511561 details
PSEN1CASP1HPRD10069390 details
PSEN1PIK3R1HPRD15192701 details
PSEN1PRKCZHPRD14576165 details
PSEN1GDI1HPRD15480879 details
PSEN1CASP3HPRD10069390 details
PSEN1CASP6HPRD10069390 details
PSEN1PRKACAHPRD14576165 details
PSEN1CASP7HPRD10069390 details
PSEN1CASP8HPRD10069390 details
PSEN1SCAF11HPRD10069390 details
PSEN1DLL1HPRD12794186 details
PSEN1CDH8BioGRID, IntAct28514442 details
PSEN1SPPL2BBioGRID, IntAct28514442 details
PSEN1VASNDIP18942891 details
PSEN1DNERDIP18942891 details
PSEN1NPR1DIP18942891 details
PSEN1PLXDC2DIP18942891 details
PSEN1DSG2DIP18942891 details
PSEN1DAG1DIP18942891 details
PSEN1ZW10BioGRID, UniProt25959826 details
PSEN1CNOT7BioGRID, UniProt25959826 details
PSEN1RHBDD2BioGRID, UniProt25959826 details
PSEN1PCBP2BioGRID, UniProt25959826 details
PSEN1DNAJB12BioGRID, UniProt25959826 details
PSEN1BCAP31BioGRID, UniProt25959826 details
PSEN1BAG6BioGRID, UniProt25959826 details
PSEN1EMC2BioGRID, UniProt25959826 details
PSEN1TMEM43BioGRID, UniProt25959826 details
PSEN1TMEM33BioGRID, UniProt25959826 details
PSEN1TMCO1BioGRID, UniProt25959826 details
PSEN1TBL3BioGRID, UniProt25959826 details
PSEN1STT3ABioGRID, UniProt25959826 details
PSEN1SSR4BioGRID, UniProt25959826 details
PSEN1SSR3BioGRID, UniProt25959826 details
PSEN1SSR1BioGRID, UniProt25959826 details
PSEN1SRPRBBioGRID, UniProt25959826 details
PSEN1SOAT1BioGRID, UniProt25959826 details
PSEN1SLC1A5BioGRID, UniProt25959826 details
PSEN1SKP1BioGRID, UniProt25959826 details
PSEN1SCDBioGRID, UniProt25959826 details
PSEN1SAR1ABioGRID, UniProt25959826 details
PSEN1RPN2BioGRID, UniProt25959826 details
PSEN1RPN1UniProt25959826 details
PSEN1RPL38BioGRID, UniProt25959826 details
PSEN1RDH11BioGRID, UniProt25959826 details
PSEN1RANGAP1BioGRID, UniProt25959826 details
PSEN1HACD3BioGRID, UniProt25959826 details
PSEN1PSMD2BioGRID, UniProt25959826 details
PSEN1PSMD14BioGRID, UniProt25959826 details
PSEN1PSMC3BioGRID, UniProt25959826 details
PSEN1PSMC2BioGRID, UniProt25959826 details
PSEN1PSMB5BioGRID, UniProt25959826 details
PSEN1PSMB2BioGRID, UniProt25959826 details
PSEN1PSMA7BioGRID, UniProt25959826 details
PSEN1PSMA6BioGRID, UniProt25959826 details
PSEN1PSMA4BioGRID, UniProt25959826 details
PSEN1PSMA2BioGRID, UniProt25959826 details
PSEN1PGRMC1BioGRID, UniProt25959826 details
PSEN1MLF1BioGRID, UniProt25959826 details
PSEN1MLECBioGRID, UniProt25959826 details
PSEN1MAGEB2BioGRID, UniProt25959826 details
PSEN1EMC1BioGRID, UniProt25959826 details
PSEN1HSPB1BioGRID, UniProt25959826 details
PSEN1HSPA8BioGRID, UniProt25959826 details
PSEN1HSPA5BioGRID, UniProt25959826 details
PSEN1HSD17B12BioGRID, UniProt25959826 details
PSEN1ESYT1BioGRID, UniProt25959826 details
PSEN1FAF2BioGRID, UniProt25959826 details
PSEN1FADS2BioGRID, UniProt25959826 details
PSEN1FADS1BioGRID, UniProt25959826 details
PSEN1EIF4G1BioGRID, UniProt25959826 details
PSEN1DNAJC7BioGRID, UniProt25959826 details
PSEN1DNAJB11BioGRID, UniProt25959826 details
PSEN1DNAJA2BioGRID, UniProt25959826 details
PSEN1DNAJA1BioGRID, UniProt25959826 details
PSEN1DHCR24BioGRID, UniProt25959826 details
PSEN1DEGS1BioGRID, UniProt25959826 details
PSEN1DDX20BioGRID, UniProt25959826 details
PSEN1DDOSTBioGRID, UniProt25959826 details
PSEN1CYP51A1BioGRID, UniProt25959826 details
PSEN1EMC8BioGRID, UniProt25959826 details
PSEN1CHMP1ABioGRID, UniProt25959826 details
PSEN1CDKN2ABioGRID, UniProt25959826 details
PSEN1BAG2BioGRID, UniProt25959826 details
PSEN1ATP2A2BioGRID, UniProt25959826 details
PSEN1ARL1BioGRID, UniProt25959826 details
PSEN1ARF4BioGRID, UniProt25959826 details
PSEN1ADAM10UniProt30538620 details
PSEN1DSPBioGRID22939629 details
PSEN1DHX9BioGRID22939629 details
PSEN1DTNABioGRID22939629 details
PSEN1NDUFS8BioGRID22939629 details
PSEN1HRASBioGRID30194290 details
PSEN1NRASBioGRID30194290 details
PSEN1KRASBioGRID30194290 34079125 details
PSEN1IVDBioGRID31536960 details
PSEN1TXNRD2BioGRID31536960 details
PSEN1CHCHD4BioGRID31536960 details
PSEN1MCFD2BioGRID31536960 details
PSEN1ALDH9A1BioGRID31536960 details
PSEN1PGDBioGRID31536960 details
PSEN1TMEM30ABioGRID31536960 details
PSEN1TOMM22BioGRID31536960 details
PSEN1GLB1BioGRID25959826 details
PSEN1PLEKHA4BioGRID31091453 details
PSEN1LAMTOR1BioGRID34079125 details
PSEN1UNKBioGRID25737280 details