Gene Page: PSEN1

Summary
GeneID  5663
Symbol  PSEN1
Synonyms  AD3|FAD|PS1|S182
Description  presenilin 1
See related  HGNC:9508|MIM:104311|Ensembl:ENSG00000080815|HPRD:00087|
Locus tag  -
Gene type  protein-coding
Map location  14q24.3
 
Gene in Data Sources
Gene set name Method of gene set Evidence Info
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: [schizophrenias, schizophrenia]Click to show detail
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 7 
NetworkShortest path distance of core genes in the Human protein-protein interaction networkContribution to shortest path in PPI network: 0.1281 
 
General Gene Expression (microarray) ?
 
Gene Expression in Brain Regions (new)
 
Top co-expressed genes in Brain Regions (new)
GenePearson's Correlation Spearman's Correlation
Top 10 positively co-expressed genes
PSMA70.940.94
EIF60.930.94
C17orf490.920.93
RPL26L10.920.94
PQBP10.920.93
SEC61B0.910.89
PSMD130.910.93
CCT70.900.90
NDUFB110.900.90
SNRPC0.900.91
Top 10 negatively co-expressed genes
AF347015.33-0.72-0.80
AF347015.26-0.71-0.84
AF347015.8-0.71-0.79
MT-CO2-0.71-0.76
MT-CYB-0.71-0.79
AF347015.15-0.71-0.81
AF347015.27-0.71-0.79
AF347015.2-0.70-0.81
AF347015.31-0.68-0.75
TINAGL1-0.66-0.76
Gene Ontology
Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0004175endopeptidase activityIDA8755489 
GO:0008013beta-catenin bindingIPI11104755 
GO:0008233peptidase activityIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0001764neuron migrationIEAneuron (GO term level: 8)-
GO:0048167regulation of synaptic plasticityIEASynap (GO term level: 8)-
GO:0030900forebrain developmentIEABrain (GO term level: 8)-
GO:0048854brain morphogenesisIEABrain (GO term level: 8)-
GO:0001756somitogenesisIEA-
GO:0001568blood vessel developmentIEA-
GO:0001708cell fate specificationIEA-
GO:0002244hemopoietic progenitor cell differentiationIEA-
GO:0002573myeloid leukocyte differentiationIEA-
GO:0002286T cell activation during immune responseIEA-
GO:0001933negative regulation of protein amino acid phosphorylationIEA-
GO:0001947heart loopingIEA-
GO:0042987amyloid precursor protein catabolic processTAS15274632 
GO:0007176regulation of epidermal growth factor receptor activityIEA-
GO:0006486protein amino acid glycosylationIEA-
GO:0006509membrane protein ectodomain proteolysisIDA15274632 
GO:0007242intracellular signaling cascadeIEA-
GO:0007220Notch receptor processingTAS15274632 
GO:0009790embryonic developmentIEA-
GO:0009791post-embryonic developmentIEA-
GO:0007507heart developmentIEA-
GO:0007613memoryIEA-
GO:0006916anti-apoptosisTAS10805794 
GO:0007059chromosome segregationTAS10206644 
GO:0043065positive regulation of apoptosisIEA-
GO:0016337cell-cell adhesionIMP11953314 
GO:0042325regulation of phosphorylationIDA9689133 
GO:0016485protein processingIDA15274632 
GO:0040011locomotionIEA-
GO:0021904dorsoventral neural tube patterningIEA-
GO:0050820positive regulation of coagulationIEA-
GO:0050852T cell receptor signaling pathwayIEA-
GO:0043085positive regulation of catalytic activityIDA15274632 
GO:0030326embryonic limb morphogenesisIEA-
GO:0042640anagenIEA-
GO:0045860positive regulation of protein kinase activityIEA-
GO:0048538thymus developmentIEA-
GO:0050435beta-amyloid metabolic processIEA-
GO:0051563smooth endoplasmic reticulum calcium ion homeostasisIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0043025cell somaIEAaxon, dendrite (GO term level: 4)-
GO:0030425dendriteIEAneuron, axon, dendrite (GO term level: 6)-
GO:0030424axonIEAneuron, axon, Neurotransmitter (GO term level: 6)-
GO:0000139Golgi membraneIEA-
GO:0000776kinetochoreTAS9298903 
GO:0005794Golgi apparatusIDA15274632 
GO:0005789endoplasmic reticulum membraneIEA-
GO:0005622intracellularIEA-
GO:0005624membrane fractionTAS8878479 
GO:0005634nucleusIEA-
GO:0005639integral to nuclear inner membraneTAS9298903 
GO:0005640nuclear outer membraneIDA9246482 
GO:0005739mitochondrionIDA12377771 
GO:0005783endoplasmic reticulumIDA15274632 
GO:0009986cell surfaceIEA-
GO:0005886plasma membraneIEA-
GO:0005887integral to plasma membraneIDA15274632 
GO:0035253ciliary rootletIEA-
GO:0031410cytoplasmic vesicleIEA-
 
Protein-protein InteractionsShown by network
InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
APBA1D9S411E | MINT1 | X11 | X11A | X11ALPHAamyloid beta (A4) precursor protein-binding, family A, member 1-HPRD12196555 
APH1A6530402N02Rik | APH-1A | CGI-78anterior pharynx defective 1 homolog A (C. elegans)APH-1A interacts with PSEN1.BIND12297508 
Affinity Capture-Western
Co-fractionation		BioGRID12297508 |12471034 
|14572442 
APH1BAPH-1B | DKFZp564D0372 | PRO1328 | PSFL | TAAV688anterior pharynx defective 1 homolog B (C. elegans)-HPRD12471034 
APPAAA | ABETA | ABPP | AD1 | APPI | CTFgamma | CVAP | PN2amyloid beta (A4) precursor protein-HPRD10593990 
APPswe interacts with PS-1delta-9.BIND14756819 
PS1 interacts with APP via the APP-C100 fragment.BIND10801777 
PS1 interacts with APP751.BIND9223340 
PS1 interacts with APP695.BIND9223340 
PS1 interacts with APP.BIND15448688 
BCL2Bcl-2B-cell CLL/lymphoma 2-HPRD,BioGRID10521466 
BCL2L1BCL-XL/S | BCL2L | BCLX | Bcl-X | DKFZp781P2092 | bcl-xL | bcl-xSBCL2-like 1-HPRD,BioGRID10446169 
CASP1ICE | IL1BC | P45caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)PS-1 interacts with caspase 1. This interaction was modeled on a demonstrated interaction between human PS1 and mouse caspase 1.BIND10069390 
CASP3CPP32 | CPP32B | SCA-1caspase 3, apoptosis-related cysteine peptidasePS1 interacts with caspase 3. This interaction was modeled on a demonstrated interaction between human PS1 and mouse caspase 3.BIND10069390 
CASP4ICE(rel)II | ICEREL-II | ICH-2 | Mih1/TX | TXcaspase 4, apoptosis-related cysteine peptidasePS1 interacts with caspase 4. This interaction was modeled on a demonstrated interaction between human PS1 and mouse caspase 4.BIND10069390 
CASP7CMH-1 | ICE-LAP3 | MCH3caspase 7, apoptosis-related cysteine peptidasePS1 interacts with caspase 7. This interaction was modeled on a demonstrated interaction between human PS1 and mouse caspase 7.BIND10069390 
CDH1Arc-1 | CD324 | CDHE | ECAD | LCAM | UVOcadherin 1, type 1, E-cadherin (epithelial)Affinity Capture-WesternBioGRID10635315 
CIB1CIB | KIP | KIP1 | SIP2-28calcium and integrin binding 1 (calmyrin)Two-hybridBioGRID10366599 
CLSTN1ALC-ALPHA | CSTN1 | FLJ32258 | KIAA0911 | PIK3CD | XB31alpha | alcalpha1 | alcalpha2calsyntenin 1Affinity Capture-WesternBioGRID15037614 
CTNNA1CAP102 | FLJ36832catenin (cadherin-associated protein), alpha 1, 102kDaAffinity Capture-WesternBioGRID10635315 
CTNNB1CTNNB | DKFZp686D02253 | FLJ25606 | FLJ37923catenin (cadherin-associated protein), beta 1, 88kDaAffinity Capture-WesternBioGRID9738936 |9852041 
|10341227 
PS1 interacts with beta-catenin.BIND9632714 
CTNND1CAS | CTNND | KIAA0384 | P120CAS | P120CTN | p120catenin (cadherin-associated protein), delta 1Affinity Capture-Western
Reconstituted Complex
Two-hybrid		BioGRID10208590 
CTNND2GT24 | NPRAPcatenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)PS1 interacts with NPRAPBIND10037471 
DOCK3KIAA0299 | MOCA | PBPdedicator of cytokinesis 3-HPRD10854253 
ERN1FLJ30999 | IRE1 | IRE1P | MGC163277 | MGC163279endoplasmic reticulum to nucleus signaling 1-HPRD,BioGRID10587643 
FBXW7AGO | CDC4 | DKFZp686F23254 | FBW6 | FBW7 | FBX30 | FBXO30 | FBXW6 | FLJ16457 | SEL-10 | SEL10F-box and WD repeat domain containing 7Affinity Capture-WesternBioGRID12354302 
FLNBABP-278 | AOI | DKFZp686A1668 | DKFZp686O033 | FH1 | FLN1L | LRS1 | SCT | TABP | TAPfilamin B, beta (actin binding protein 278)Reconstituted Complex
Two-hybrid		BioGRID9437013 
GFAPFLJ45472glial fibrillary acidic protein-HPRD,BioGRID12058025 
HERPUD1HERP | KIAA0025 | Mif1 | SUPhomocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1-HPRD,BioGRID11799129 
ICAM5TLCN | TLNintercellular adhesion molecule 5, telencephalin-HPRD,BioGRID11719200 
KCNIP3CSEN | DREAM | KCHIP3 | MGC18289Kv channel interacting protein 3, calsenilinAffinity Capture-WesternBioGRID9771752 |10854253 
-HPRD12207970 
KCNIP4CALP | KCHIP4 | MGC44947Kv channel interacting protein 4Two-hybridBioGRID11847232 
MAPTDDPAC | FLJ31424 | FTDP-17 | MAPTL | MGC138549 | MSTD | MTBT1 | MTBT2 | PPND | TAUmicrotubule-associated protein tau-HPRD,BioGRID9689133 
METTL2BFLJ11350 | FLJ12760 | METL | METTL2 | METTL2A | PSENIP1methyltransferase like 2BTwo-hybridBioGRID11738826 
MTCH1CGI-64 | MGC131998 | PIG60 | PSAPmitochondrial carrier homolog 1 (C. elegans)-HPRD10551805 
NCSTNAPH2 | KIAA0253nicastrinPS1 interacts with Nicastrin.BIND10993067 
Affinity Capture-WesternBioGRID10993067 |12297508 
|12471034 |14572442 
|15257293 
NOTCH1TAN1 | hN1Notch homolog 1, translocation-associated (Drosophila)Affinity Capture-WesternBioGRID10077672 
PKP4FLJ31261 | FLJ42243 | p0071plakophilin 4-HPRD,BioGRID10037471 |10092585 
PSEN1AD3 | FAD | PS1 | S182presenilin 1Two-hybridBioGRID12535650 
PSEN2AD3L | AD4 | PS2 | STM2presenilin 2 (Alzheimer disease 4)Affinity Capture-WesternBioGRID12471034 
PSENENMDS033 | MSTP064 | PEN-2 | PEN2presenilin enhancer 2 homolog (C. elegans)PEN-2 interacts with PS1.BIND15322109 
-HPRD,BioGRID12198112 |12639958 
STX1AHPC-1 | STX1 | p35-1syntaxin 1A (brain)PS1 interacts with syntaxin 1A.BIND10891589 
STX5SED5 | STX5Asyntaxin 5The full-length PS1 holoprotein interacts with Syntaxin 5.BIND15109302 
TCF7L2TCF-4 | TCF4transcription factor 7-like 2 (T-cell specific, HMG-box)-HPRD,BioGRID11504726 
UBQLN1DA41 | DSK2 | FLJ90054 | PLIC-1 | XDRP1ubiquilin 1Reconstituted Complex
Two-hybrid		BioGRID11076969 
YME1L1FTSH | MEG4 | PAMP | YME1LYME1-like 1 (S. cerevisiae)-HPRD,BioGRID12214059 
 
Pathway annotation
Pathway namePathway size# SZGR genes in pathwayInfo
KEGG_WNT_SIGNALING_PATHWAY 151112All SZGR genes in this pathway
KEGG_NOTCH_SIGNALING_PATHWAY 4735All SZGR genes in this pathway
KEGG_NEUROTROPHIN_SIGNALING_PATHWAY 126103All SZGR genes in this pathway
KEGG_ALZHEIMERS_DISEASE 169110All SZGR genes in this pathway
BIOCARTA_HIVNEF_PATHWAY 5843All SZGR genes in this pathway
BIOCARTA_PS1_PATHWAY 1414All SZGR genes in this pathway
ST_WNT_BETA_CATENIN_PATHWAY 3428All SZGR genes in this pathway
PID_NOTCH_PATHWAY 5949All SZGR genes in this pathway
PID_PS1_PATHWAY 4639All SZGR genes in this pathway
PID_P75_NTR_PATHWAY 6951All SZGR genes in this pathway
PID_SYNDECAN_3_PATHWAY 1715All SZGR genes in this pathway
REACTOME_SIGNALLING_BY_NGF 217167All SZGR genes in this pathway
REACTOME_SIGNALING_BY_ERBB4 9067All SZGR genes in this pathway
REACTOME_NUCLEAR_SIGNALING_BY_ERBB4 3830All SZGR genes in this pathway
REACTOME_ACTIVATED_NOTCH1_TRANSMITS_SIGNAL_TO_THE_NUCLEUS 2718All SZGR genes in this pathway
REACTOME_SIGNALING_BY_NOTCH4 1210All SZGR genes in this pathway
REACTOME_SIGNALING_BY_NOTCH2 1210All SZGR genes in this pathway
REACTOME_SIGNALING_BY_NOTCH1 7046All SZGR genes in this pathway
REACTOME_SIGNALING_BY_NOTCH3 1210All SZGR genes in this pathway
REACTOME_REGULATED_PROTEOLYSIS_OF_P75NTR 109All SZGR genes in this pathway
REACTOME_NRIF_SIGNALS_CELL_DEATH_FROM_THE_NUCLEUS 1510All SZGR genes in this pathway
REACTOME_CELL_DEATH_SIGNALLING_VIA_NRAGE_NRIF_AND_NADE 6043All SZGR genes in this pathway
REACTOME_P75_NTR_RECEPTOR_MEDIATED_SIGNALLING 8161All SZGR genes in this pathway
REACTOME_SIGNALING_BY_NOTCH 10364All SZGR genes in this pathway
MULLIGHAN_MLL_SIGNATURE_1_UP 380236All SZGR genes in this pathway
MULLIGHAN_MLL_SIGNATURE_2_UP 418263All SZGR genes in this pathway
ODONNELL_TFRC_TARGETS_UP 456228All SZGR genes in this pathway
MISSIAGLIA_REGULATED_BY_METHYLATION_UP 12678All SZGR genes in this pathway
BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_UP 811508All SZGR genes in this pathway
BENPORATH_CYCLING_GENES 648385All SZGR genes in this pathway
SHIN_B_CELL_LYMPHOMA_CLUSTER_8 3628All SZGR genes in this pathway
ZHANG_RESPONSE_TO_IKK_INHIBITOR_AND_TNF_UP 223140All SZGR genes in this pathway
ASTON_MAJOR_DEPRESSIVE_DISORDER_DN 160110All SZGR genes in this pathway
ZHANG_TARGETS_OF_EWSR1_FLI1_FUSION 8868All SZGR genes in this pathway
ALCALAY_AML_BY_NPM1_LOCALIZATION_UP 14083All SZGR genes in this pathway
LENAOUR_DENDRITIC_CELL_MATURATION_DN 12890All SZGR genes in this pathway
AFFAR_YY1_TARGETS_DN 234137All SZGR genes in this pathway
ABRAHAM_ALPC_VS_MULTIPLE_MYELOMA_DN 1914All SZGR genes in this pathway
WANG_CISPLATIN_RESPONSE_AND_XPC_DN 228146All SZGR genes in this pathway
CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5 482296All SZGR genes in this pathway
MARSON_BOUND_BY_FOXP3_STIMULATED 1022619All SZGR genes in this pathway
MARSON_BOUND_BY_FOXP3_UNSTIMULATED 1229713All SZGR genes in this pathway
MASSARWEH_TAMOXIFEN_RESISTANCE_UP 578341All SZGR genes in this pathway
IWANAGA_CARCINOGENESIS_BY_KRAS_PTEN_DN 353226All SZGR genes in this pathway
MCCABE_BOUND_BY_HOXC6 469239All SZGR genes in this pathway
MCCABE_HOXC6_TARGETS_CANCER_DN 2012All SZGR genes in this pathway
BLUM_RESPONSE_TO_SALIRASIB_UP 245159All SZGR genes in this pathway
YOSHIMURA_MAPK8_TARGETS_UP 1305895All SZGR genes in this pathway
SWEET_LUNG_CANCER_KRAS_UP 491316All SZGR genes in this pathway
SWEET_KRAS_ONCOGENIC_SIGNATURE 8956All SZGR genes in this pathway
HSIAO_HOUSEKEEPING_GENES 389245All SZGR genes in this pathway
MILI_PSEUDOPODIA_HAPTOTAXIS_DN 668419All SZGR genes in this pathway
KYNG_WERNER_SYNDROM_AND_NORMAL_AGING_DN 225124All SZGR genes in this pathway
WHITFIELD_CELL_CYCLE_M_G1 14895All SZGR genes in this pathway
RAO_BOUND_BY_SALL4_ISOFORM_A 182108All SZGR genes in this pathway
miRNA Targets ?
miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-9106910751Ahsa-miR-9SZUCUUUGGUUAUCUAGCUGUAUGA
  • SZ: miRNAs which differentially expressed in brain cortex of schizophrenia patients comparing with control samples using microarray. Click here to see the list of SZ related miRNAs.
  • Brain: miRNAs which are expressed in brain based on miRNA microarray expression studies. Click here to see the list of brain related miRNAs.


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