AutismKB 2.0

Annotation Details for PSEN1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PSEN1 ( AD3,FAD,PS1,S182 )
Gene Full Name: presenilin 1
Band: 14q24.2
Quick LinksEntrez ID:5663; OMIM: 104311; Uniprot ID:PSN1_HUMAN; ENSEMBL ID: ENSG00000080815; HGNC ID: 9508
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000139IEA-Golgi membrane-
GO:0000776IDA-kinetochore9298903
GO:0005634IDA-nucleus-
GO:0005634IMP-nucleus10508860
GO:0005640IDA-nuclear outer membrane9246482
GO:0005739IDA-mitochondrion12377771
GO:0005743IEA-mitochondrial inner membrane-
GO:0005783IDA-endoplasmic reticulum9246482
GO:0005789IEA-endoplasmic reticulum membrane-
GO:0005790IDA-smooth endoplasmic reticulum9632714
GO:0005790IDAcolocalizes_withsmooth endoplasmic reticulum10508860
GO:0005791IDA-rough endoplasmic reticulum9632714
GO:0005794IDA-Golgi apparatus9246482
GO:0005813IDA-centrosome9298903
GO:0005886IDA-plasma membrane21143716
GO:0005886TAS-plasma membrane-
GO:0005887IDA-integral component of plasma membrane15274632
GO:0005938IEA-cell cortex-
GO:0009986IEA-cell surface-
GO:0016020IDA-membrane22375059
GO:0016021IDA-integral component of membrane26280335
GO:0016021TAS-integral component of membrane7596406
GO:0016235IDA-aggresome21143716
GO:0030018IBA-Z disc-
GO:0030054IDA-cell junction-
GO:0030424IEA-axon-
GO:0030426IEA-growth cone-
GO:0031594IEA-neuromuscular junction-
GO:0031965IDA-nuclear membrane9298903
GO:0035253IEA-ciliary rootlet-
GO:0035577TAS-azurophil granule membrane-
GO:0043025IBA-neuronal cell body-
GO:0043198IEA-dendritic shaft-
GO:0043234IMP-protein complex10508860
GO:0045121IDA-membrane raft20299451
GO:0048471IBA-perinuclear region of cytoplasm-
GO:0070765IDA-gamma-secretase complex10801983
GO:0098793IEA-presynapse-
GO ID Evidence Qualifier GO_term References
GO:0004175IDA-endopeptidase activity8755489
GO:0005262IMP-calcium channel activity16959576
GO:0005515IPI-protein binding9223340
GO:0008013IPI-beta-catenin binding9632714
GO:0030165IPI-PDZ domain binding10551805
GO:0042500IDA-aspartic endopeptidase activity, intramembrane cleaving26280335
GO:0045296IBA-cadherin binding-
GO ID Evidence Qualifier GO_term References
GO:0000045IEA-autophagosome assembly-
GO:0000122IMP-negative regulation of transcription from RNA polymerase II promoter10508860
GO:0000186IEA-activation of MAPKK activity-
GO:0001568IEA-blood vessel development-
GO:0001708IEA-cell fate specification-
GO:0001756IEA-somitogenesis-
GO:0001764IEA-neuron migration-
GO:0001921IEA-positive regulation of receptor recycling-
GO:0001947IEA-heart looping-
GO:0002244IEA-hematopoietic progenitor cell differentiation-
GO:0002265IGI-astrocyte activation involved in immune response23152628
GO:0002286IEA-T cell activation involved in immune response-
GO:0003407IEA-neural retina development-
GO:0006486IEA-protein glycosylation-
GO:0006509IDA-membrane protein ectodomain proteolysis15274632
GO:0006839IEA-mitochondrial transport-
GO:0006974IEA-cellular response to DNA damage stimulus-
GO:0006979IEA-response to oxidative stress-
GO:0007175IEA-negative regulation of epidermal growth factor-activated receptor activity-
GO:0007219IEA-Notch signaling pathway-
GO:0007220TAS-Notch receptor processing15274632
GO:0007613IEA-memory-
GO:0009791IEA-post-embryonic development-
GO:0015031IEA-protein transport-
GO:0015813IEA-L-glutamate transport-
GO:0015871IEA-choline transport-
GO:0016080IEA-synaptic vesicle targeting-
GO:0016337IMP-single organismal cell-cell adhesion11953314
GO:0016485IDA-protein processing15274632
GO:0021795IEA-cerebral cortex cell migration-
GO:0021870IEA-Cajal-Retzius cell differentiation-
GO:0021904IEA-dorsal/ventral neural tube patterning-
GO:0030326IEA-embryonic limb morphogenesis-
GO:0032436IEA-positive regulation of proteasomal ubiquitin-dependent protein catabolic process-
GO:0032469IDA-endoplasmic reticulum calcium ion homeostasis17431506
GO:0032469IGI-endoplasmic reticulum calcium ion homeostasis16959576
GO:0033160IMP-positive regulation of protein import into nucleus, translocation10508860
GO:0034205IMP-amyloid-beta formation26280335
GO:0035556IEA-intracellular signal transduction-
GO:0042325IDA-regulation of phosphorylation9689133
GO:0042982IDA-amyloid precursor protein metabolic process26280335
GO:0042987TAS-amyloid precursor protein catabolic process15274632
GO:0043011IEA-myeloid dendritic cell differentiation-
GO:0043065IEA-positive regulation of apoptotic process-
GO:0043066IDA-negative regulation of apoptotic process10805794
GO:0043066IMP-negative regulation of apoptotic process10508860
GO:0043085IDA-positive regulation of catalytic activity15274632
GO:0043312TAS-neutrophil degranulation-
GO:0043393IEA-regulation of protein binding-
GO:0043524IEA-negative regulation of neuron apoptotic process-
GO:0043589IEA-skin morphogenesis-
GO:0045893IMP-positive regulation of transcription, DNA-templated23794287
GO:0048167IEA-regulation of synaptic plasticity-
GO:0048538IEA-thymus development-
GO:0048666IEA-neuron development-
GO:0048705IEA-skeletal system morphogenesis-
GO:0048854IEA-brain morphogenesis-
GO:0050435IBA-amyloid-beta metabolic process-
GO:0050673IEA-epithelial cell proliferation-
GO:0050771IEA-negative regulation of axonogenesis-
GO:0050820IEA-positive regulation of coagulation-
GO:0050852IEA-T cell receptor signaling pathway-
GO:0051402IEA-neuron apoptotic process-
GO:0051444IEA-negative regulation of ubiquitin-protein transferase activity-
GO:0051563IBA-smooth endoplasmic reticulum calcium ion homeostasis-
GO:0051966IEA-regulation of synaptic transmission, glutamatergic-
GO:0060070IBA-canonical Wnt signaling pathway-
GO:0060075IEA-regulation of resting membrane potential-
GO:0060828ISS-regulation of canonical Wnt signaling pathway-
GO:0060999IMP-positive regulation of dendritic spine development21951279
GO:0070588IEA-calcium ion transmembrane transport-
GO:1904646IGI-cellular response to amyloid-beta23152628
GO:1904797IMP-negative regulation of core promoter binding10508860
GO:2000059IEA-negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process-
GO:2001234IEA-negative regulation of apoptotic signaling pathway-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
PSEN1BCL210706810521466 Affinity Capture-Western; Two-hybrid
PSEN1BCL211164210521466 Affinity Capture-Western; Two-hybrid
PSEN1BCL2L111164210446169 Two-hybrid
PSEN1BCL2L110707010446169 Two-hybrid
PSEN1CDH111164210635315 16126725 Affinity Capture-Western
PSEN1CDH110743410635315 16126725 Affinity Capture-Western
PSEN1CTNNA110787610635315 Affinity Capture-Western
PSEN1CTNNA111164210635315 Affinity Capture-Western
PSEN1CTNNB11116429738936 9852041 10341227 16126725 17360711 Affinity Capture-Western; Reconstituted Complex
PSEN1CTNNB11078809738936 9852041 10341227 16126725 17360711 Affinity Capture-Western; Reconstituted Complex
PSEN1CTNND111164210208590 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
PSEN1CTNND110788110208590 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
PSEN1ERN111164210587643 Affinity Capture-Western
PSEN1ERN110839110587643 Affinity Capture-Western
PSEN1FLNB1116429437013 Reconstituted Complex; Two-hybrid
PSEN1FLNB1086069437013 Reconstituted Complex; Two-hybrid
PSEN1GFAP11164212058025 Reconstituted Complex; Two-hybrid
PSEN1GFAP10893812058025 Reconstituted Complex; Two-hybrid
PSEN1GSK3B10918717360711 Biochemical Activity
PSEN1GSK3B11164217360711 Biochemical Activity
PSEN1MAPT1103089689133 Co-fractionation
PSEN1MAPT1116429689133 Co-fractionation
PSEN1NOTCH111091310077672 Affinity Capture-Western
PSEN1NOTCH111164210077672 Affinity Capture-Western
KCNIP3PSEN11116429771752 10854253 Affinity Capture-Western
KCNIP3PSEN11190429771752 10854253 Affinity Capture-Western
PKP4PSEN111407410092585 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
PKP4PSEN111164210092585 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
CIB1PSEN111577410366599 Two-hybrid
CIB1PSEN111164210366599 Two-hybrid
NCSTNPSEN111696110993067 12297508 12471034 14572442 15257293 Affinity Capture-Western
NCSTNPSEN111164210993067 12297508 12471034 14572442 15257293 Affinity Capture-Western
UBQLN1PSEN111900711076969 Reconstituted Complex; Two-hybrid
UBQLN1PSEN111164211076969 Reconstituted Complex; Two-hybrid
TCF7L2PSEN111279511504726 Affinity Capture-Western
TCF7L2PSEN111164211504726 Affinity Capture-Western
ICAM5PSEN111294211719200 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
ICAM5PSEN111164211719200 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
HERPUD1PSEN111506011799129 Affinity Capture-Western
HERPUD1PSEN111164211799129 Affinity Capture-Western
KCNIP4PSEN112324411847232 Two-hybrid
KCNIP4PSEN111164211847232 Two-hybrid
PSENENPSEN112095312198112 12639958 14572442 Affinity Capture-Western
PSENENPSEN111164212198112 12639958 14572442 Affinity Capture-Western
YME1L1PSEN111595412214059 Two-hybrid
YME1L1PSEN111164212214059 Two-hybrid
APH1APSEN111929612297508 12471034 14572442 Affinity Capture-Western; Co-fractionation
APH1APSEN111164212297508 12471034 14572442 Affinity Capture-Western; Co-fractionation
FBXW7PSEN112058112354302 Affinity Capture-Western
FBXW7PSEN111164212354302 Affinity Capture-Western
PSEN2PSEN111164212471034 Affinity Capture-Western
PSEN2PSEN111164312471034 Affinity Capture-Western
PSEN1PSEN111164212535650 Two-hybrid
CLSTN1PSEN111655015037614 Affinity Capture-Western
CLSTN1PSEN111164215037614 Affinity Capture-Western
TRAF6PSEN111304119012753 Affinity Capture-Western
TRAF6PSEN111164219012753 Affinity Capture-Western
Gene Symbol Interactant Interaction ID References Description
PSENENPSEN119475815322109 PEN-2 interacts with PS1.
No data
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
PSEN1-1789 G/A, -2154 G/A, -2782 ins/del, -2797 ins/del, -2823 del/ins, -2923 G/T, -364 A/C, -4752 C/T, TATCn, rs10151436, rs165932, rs17125457, rs1800839, rs1800844, rs214260, rs214273, rs3025780, rs3025786, rs3025787, rs362373, rs362373 (E318G), rs7152131, rs7523 Gene overview in AlzGene
No data
Gene Symbol Poly Names Gene overview in SZGene
PSEN1PSEN1_BamHI[A/C] Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:1202717
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-991119-4'