Entity Details

Primary name PSN1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP49768
EntryNamePSN1_HUMAN
FullNamePresenilin-1
TaxID9606
Evidenceevidence at protein level
Length467
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesPSEN1

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

Subcellular Location

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Subcellular Location
Cell junction
Cell membrane
Cell projection
Cytoplasmic granule
Early endosome
Early endosome membrane
Endoplasmic reticulum
Endoplasmic reticulum membrane
Golgi apparatus membrane

Domains

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DomainNameCategoryType
IPR001108 Peptidase A22A, presenilinFamilyFamily
IPR002031 Peptidase A22A, presenilin 1FamilyFamily
IPR006639 Presenilin/signal peptide peptidaseFamilyFamily
IPR042524 Presenilin, C-terminalFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
613737 OMIMAcne inversa, familial, 3 (ACNINV3)A chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. The disease is caused by variants affecting the gene represented in this entry.
613694 OMIMCardiomyopathy, dilated 1U (CMD1U)A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by variants affecting the gene represented in this entry.
600274 OMIMFrontotemporal dementia (FTD)A form of dementia characterized by pathologic finding of frontotemporal lobar degeneration, presenile dementia with behavioral changes, deterioration of cognitive capacities and loss of memory. In some cases, parkinsonian symptoms are prominent. Neuropathological changes include frontotemporal atrophy often associated with atrophy of the basal ganglia, substantia nigra, amygdala. In most cases, protein tau deposits are found in glial cells and/or neurons. The disease is caused by variants affecting the gene represented in this entry.
607822 OMIMAlzheimer disease 3 (AD3)A familial early-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. The disease is caused by variants affecting the gene represented in this entry.
172700 OMIMPick disease of the brain (PIDB)A rare form of dementia pathologically defined by severe atrophy, neuronal loss and gliosis. It is characterized by the occurrence of tau-positive inclusions, swollen neurons (Pick cells) and argentophilic neuronal inclusions known as Pick bodies that disproportionally affect the frontal and temporal cortical regions. Clinical features include aphasia, apraxia, confusion, anomia, memory loss and personality deterioration. The gene represented in this entry may be involved in disease pathogenesis.

Interactions

147 interactions

InteractorPartnerSourcesPublicationsLink
PSN1_HUMANFLNB_HUMANBioGRID, HPRD, MINT9437013 details
PSN1_HUMANFLNA_HUMANHPRD, MINT9437013 details
PSN1_HUMANB2CL1_HUMANBioGRID, HPRD, MINT10446169 details
PSN1_HUMANUBQL1_HUMANBioGRID, HPRD, MINT11076969 16813565 16815845 details
PSN1_HUMANPKP4_HUMANBioGRID, HPRD, MINT10037471 10092585 details
PSN1_HUMANAPBA1_HUMANHPRD, IntAct, MINT11083918 12196555 16007100 details
PSN1_HUMANGSK3B_HUMANBioGRID, HPRD, MINT10997338 11104755 11193155 16814287 17360711 details
PSN1_HUMANNICA_HUMANBioGRID, HPRD, IntAct, MINT, UniProt10993067 12297508 12471034 12603837 14572442 15257293 15474363 16641999 17911105 18201567 18667537 28351972 29611543 30559186 details
PSN1_HUMANA4_HUMANBioGRID, DIP, HPRD, IntAct10593990 11083918 21115843 21163940 23209290 28351972 32814053 9223340 details
PSN1_HUMANECSIT_HUMANBioGRID, IntAct21163940 details
PSN1_HUMANF10A1_HUMANBioGRID, IntAct21163940 details
PSN1_HUMANCDC37_HUMANBioGRID, IntAct21163940 details
PSN1_HUMANGCDH_HUMANBioGRID, IntAct21163940 details
PSN1_HUMANE41L3_HUMANBioGRID, IntAct21163940 details
PSN1_HUMANACTN1_HUMANBioGRID, IntAct21163940 details
PSN1_HUMANEFHD1_HUMANBioGRID, IntAct21163940 details
PSN1_HUMANG3P_HUMANBioGRID, IntAct21163940 details
PSN1_HUMANRMD3_HUMANBioGRID, IntAct21163940 details
PSN1_HUMANENSA_HUMANBioGRID, IntAct21163940 details
PSN1_HUMANCOF1_HUMANBioGRID, IntAct21163940 details
PSN1_HUMANUMPS_HUMANBioGRID, IntAct21163940 details
PSN1_HUMANSCOT1_HUMANBioGRID, IntAct21163940 details
PSN1_HUMANCDK5_HUMANBioGRID, HPRD, IntAct12056836 21163940 details
PSN1_HUMANKANK2_HUMANBioGRID, IntAct21163940 details
PSN1_HUMANPRAM_HUMANBioGRID, IntAct21163940 details
PSN1_HUMANRAB3A_HUMANBioGRID, IntAct21163940 details
PSN1_HUMANPSN2_HUMANBioGRID, IntAct12471034 15474363 21163940 details
PSN1_HUMANAPOE_HUMANBioGRID, IntAct21163940 details
PSN1_HUMANTYDP2_HUMANBioGRID, IntAct21988832 details
PSN1_HUMANHTRA2_HUMANIntAct10971580 details
PSN1_HUMANSOAT_HUMANBioGRID, IntAct32296183 details
PSN1_HUMANPEN2_HUMANBioGRID, HPRD, IntAct, UniProt12198112 12639958 14572442 15322109 15474363 21115843 22074918 30559186 32296183 details
PSN1_HUMANAPBA2_HUMANUniProt29578633 details
PSN1_HUMANPSB1_HUMANBioGRID, UniProt10527805 25959826 details
PSN1_HUMANPSA5_HUMANBioGRID, UniProt10527805 25959826 details
PSN1_HUMANPSN1_HUMANBioGRID, HPRD, UniProt12535650 15474363 25959826 9452432 details
PSN1_HUMANBI1_HUMANUniProt30559186 details
PSN1_HUMANBACE1_HUMANHPRD, UniProt12901838 details
PSN1_HUMANFMR1_HUMANIntAct32814053 details
PSN1_HUMANRN112_HUMANIntAct32814053 details
PSN1_HUMANAP2B1_HUMANIntAct32814053 details
PSN1_HUMANH31_HUMANIntAct32814053 details
PSN1_HUMANHYAL2_HUMANIntAct32814053 details
PSN1_HUMANPLPP1_HUMANIntAct32814053 details
PSN1_HUMANPLK1_HUMANIntAct32814053 details
PSN1_HUMANTR11B_HUMANIntAct32814053 details
PSN1_HUMANFRIL_HUMANIntAct32814053 details
PSN1_HUMANCBPE_HUMANIntAct32814053 details
PSN1_HUMANRN111_HUMANIntAct32814053 details
PSN1_HUMANOOSP2_HUMANIntAct32814053 details
PSN1_HUMANZMAT2_HUMANIntAct32814053 details
PSN1_HUMANSGSM1_HUMANIntAct32814053 details
PSN1_HUMANMOFA1_HUMANIntAct32814053 details
PSN1_HUMANLDH6B_HUMANIntAct32814053 details
PSN1_HUMANHUMMR_HUMANIntAct32814053 details
PSN1_HUMANKRA92_HUMANIntAct32814053 details
PSN1_HUMANWDR61_HUMANIntAct32814053 details
PSN1_HUMANDCR1B_HUMANIntAct32814053 details
PSN1_HUMANKBTB4_HUMANIntAct32814053 details
PSN1_HUMANOTUB1_HUMANIntAct32814053 details
PSN1_HUMANDALD3_HUMANIntAct32814053 details
PSN1_HUMANSPAG8_HUMANIntAct32814053 details
PSN1_HUMANRYBP_HUMANIntAct32814053 details
PSN1_HUMANPDZ1I_HUMANIntAct32814053 details
PSN1_HUMANIQEC1_HUMANIntAct32814053 details
PSN1_HUMANFEZ2_HUMANIntAct32814053 details
PSN1_HUMANCTNB1_HUMANBioGRID, HPRD10092585 10341227 11168528 11193155 11226248 12070348 16126725 16306047 17360711 9738936 9852041 details
PSN1_HUMANGFAP_HUMANBioGRID, HPRD12058025 details
PSN1_HUMANICAM5_HUMANBioGRID, HPRD11719200 details
PSN1_HUMANBCL2_HUMANBioGRID, HPRD10521466 15905180 details
PSN1_HUMANNOTC1_HUMANBioGRID, HPRD10077672 10206645 12374741 28351972 details
PSN1_HUMANCTND1_HUMANBioGRID, HPRD10208590 11226248 28069439 details
PSN1_HUMANKCIP4_HUMANBioGRID11847232 details
PSN1_HUMANCIB1_HUMANBioGRID, HPRD10366599 details
PSN1_HUMANYMEL1_HUMANBioGRID, HPRD12214059 details
PSN1_HUMANAP1M2_HUMANBioGRID21163940 details
PSN1_HUMANCP2CI_HUMANBioGRID21163940 details
PSN1_HUMANCP2C8_HUMANBioGRID21163940 details
PSN1_HUMANFXL12_HUMANBioGRID21163940 details
PSN1_HUMANNOS3_HUMANBioGRID21163940 details
PSN1_HUMANPDCD4_HUMANBioGRID21163940 details
PSN1_HUMANPRDX2_HUMANBioGRID21163940 details
PSN1_HUMANRD23A_HUMANBioGRID21163940 details
PSN1_HUMANRHEB_HUMANBioGRID21163940 details
PSN1_HUMANSTALP_HUMANBioGRID21163940 details
PSN1_HUMANRNF32_HUMANBioGRID21163940 details
PSN1_HUMANFGF13_HUMANBioGRID21163940 details
PSN1_HUMANHMGB1_HUMANBioGRID21163940 details
PSN1_HUMANITSN2_HUMANBioGRID21163940 details
PSN1_HUMANSCN1A_HUMANBioGRID21163940 details
PSN1_HUMANTBA1B_HUMANBioGRID21163940 details
PSN1_HUMANETFA_HUMANBioGRID10527805 details
PSN1_HUMANRYR2_HUMANBioGRID24029002 details
PSN1_HUMANMK09_HUMANBioGRID18667537 details
PSN1_HUMANFKBP8_HUMANBioGRID15905180 details
PSN1_HUMANPLAK_HUMANBioGRID, HPRD11226248 16306047 19114997 details
PSN1_HUMANRB11A_HUMANHPRD10369872 details
PSN1_HUMANCTND2_HUMANHPRD10037471 10208590 9223106 details
PSN1_HUMANMET2B_HUMANHPRD11738826 details
PSN1_HUMANDOCK3_HUMANHPRD10854253 details
PSN1_HUMANMTCH1_HUMANHPRD, IntAct10551805 12377771 details
PSN1_HUMANCADH1_HUMANBioGRID, MINT10635315 11953314 16126725 19114997 details
PSN1_HUMANTMEDA_HUMANBioGRID, IntAct, UniProt16641999 25959826 details
PSN1_HUMANAPH1A_HUMANBioGRID, DIP, HPRD, UniProt12297508 12471034 14572442 15474363 17911105 18667537 26280335 30559186 details
PSN1_HUMANTREM2_HUMANUniProt29611543 details
PSN1_HUMANERLN2_HUMANBioGRID, UniProt22771797 25959826 details
PSN1_HUMANFLOT2_HUMANUniProt25893612 details
PSN1_HUMANSTXB1_HUMANUniProt25893612 details
PSN1_HUMANNEUM_HUMANUniProt25893612 details
PSN1_HUMANGTR3_HUMANUniProt25893612 details
PSN1_HUMANMYCT_HUMANUniProt25893612 details
PSN1_HUMANATP9A_HUMANUniProt25893612 details
PSN1_HUMANHCN2_HUMANUniProt25893612 details
PSN1_HUMANNDUS7_HUMANUniProt25893612 details
PSN1_HUMANCNTP1_HUMANUniProt25893612 details
PSN1_HUMANCSTN1_HUMANBioGRID15037614 details
PSN1_HUMANCSEN_HUMANBioGRID, HPRD10854253 12207970 9771752 details
PSN1_HUMANFBXW7_HUMANBioGRID, HPRD12354302 details
PSN1_HUMANCTNA1_HUMANBioGRID, HPRD10635315 details
PSN1_HUMANTF7L2_HUMANBioGRID11504726 details
PSN1_HUMANHERP1_HUMANBioGRID, HPRD11799129 14550564 details
PSN1_HUMANERN1_HUMANBioGRID, HPRD10587643 details
PSN1_HUMANTAU_HUMANBioGRID, HPRD9689133 details
PSN1_HUMANTRAF6_HUMANBioGRID18996842 19012753 23707529 24399296 details
PSN1_HUMANIRAK2_HUMANBioGRID18996842 details
PSN1_HUMANAPH1B_HUMANBioGRID, HPRD12471034 15474363 details
PSN1_HUMANTGFR1_HUMANBioGRID24399296 details
PSN1_HUMANUBC_HUMANBioGRID24399296 25959826 details
PSN1_HUMANGSAP_HUMANBioGRID20811458 details
PSN1_HUMANPE2R4_HUMANBioGRID19407341 details
PSN1_HUMANCADH2_HUMANBioGRID20696212 details
PSN1_HUMANNOTC4_HUMANHPRD11518718 details
PSN1_HUMANNOTC2_HUMANHPRD11518718 details
PSN1_HUMANNOTC3_HUMANHPRD11518718 details
PSN1_HUMANCASP4_HUMANHPRD10069390 details
PSN1_HUMANEFNB2_HUMANHPRD16511561 details
PSN1_HUMANCASP1_HUMANHPRD10069390 details
PSN1_HUMANP85A_HUMANHPRD15192701 details
PSN1_HUMANKPCZ_HUMANHPRD14576165 details
PSN1_HUMANGDIA_HUMANHPRD15480879 details
PSN1_HUMANCASP3_HUMANHPRD10069390 details
PSN1_HUMANCASP6_HUMANHPRD10069390 details
PSN1_HUMANKAPCA_HUMANHPRD14576165 details
PSN1_HUMANCASP7_HUMANHPRD10069390 details
PSN1_HUMANCASP8_HUMANHPRD10069390 details
PSN1_HUMANSCAFB_HUMANHPRD10069390 details
PSN1_HUMANDLL1_HUMANHPRD12794186 details