Gene: PSEN1

5663
ACNINV3|AD3|FAD|PS-1|PS1|S182
presenilin 1
protein-coding
14q24.2
Ensembl:ENSG00000080815 MIM:104311 Vega:OTTHUMG00000141279 UniprotKB:P49768
NG_007386.2
PubMed
0   ANCO-SNPs
ND|AD
2   
NA (AD)  NA (ND)   (Frontal_Cortex)
1.477e-1 (AD)  3.661e-1 (ND)

DNA Methylation

There is no related methylation information for this gene.

Gene Expression in Different Tissues

Temporal and Spatial Expressions (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes average value of the expressions.

Top Co-expressed Genes in Brain-Frontal Cortex (BA9) (GTEx v7)

Top 10 positively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
FRYL0.926
DIP2B0.892
SPTLC20.89
STRN0.888
FUT80.885
ABHD17B0.884
PTK20.883
CNTN20.88
FAM124A0.879
SEMA6A0.878

Top 10 negatively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
OR4F5-0.5
OR4F29-0.496
OR4F16-0.236
PAX2-0.22
SHISA8-0.187
WNT7B-0.184
WTIP-0.184
GOLGA6L1-0.184
CMA1-0.183
EPPIN-0.182

Drugs/Compounds

    There is no DrugBank record for this gene !

ID Drug Name Action PubMed
C0235142,6-dinitrotoluene"2,6-dinitrotoluene affects the expression of PSEN1 mRNA"21346803
C0095054,4'-diaminodiphenylmethane"4,4'-diaminodiphenylmethane results in increased expression of PSEN1 mRNA"18648102
C4591794-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide"4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide results in increased expression of PSEN1 protein"25670856
D000082AcetaminophenAcetaminophen results in increased expression of PSEN1 mRNA25704631
D000082AcetaminophenAcetaminophen affects the expression of PSEN1 mRNA17562736
D012435S-AdenosylhomocysteineBetaine inhibits the reaction [S-Adenosylhomocysteine results in decreased methylation of PSEN1 promoter]19635394
D012435S-AdenosylhomocysteineS-Adenosylhomocysteine results in decreased methylation of PSEN1 promoter19635394
D012435S-AdenosylhomocysteineS-Adenosylhomocysteine results in increased expression of PSEN1 protein19635394
D012436S-Adenosylmethionine[[Folic Acid deficiency co-treated with Vitamin B 12 deficiency] results in decreased abundance of S-Adenosylmethionine] which results in increased expression of PSEN1 protein15607954
D012436S-AdenosylmethionineS-Adenosylmethionine affects the expression of PSEN1 protein15607954
D000395Air Pollutants, Occupational"Air Pollutants, Occupational results in decreased expression of PSEN1 mRNA"23195993
D013196DihydrotestosteroneDihydrotestosterone results in increased expression of PSEN1 protein25461682
D013196DihydrotestosteroneTrenbolone Acetate analog inhibits the reaction [Dihydrotestosterone results in increased expression of PSEN1 protein]25461682
D013196Dihydrotestosteronetrilostane inhibits the reaction [Trenbolone Acetate analog inhibits the reaction [Dihydrotestosterone results in increased expression of PSEN1 protein]]25461682
D000638AmiodaroneAmiodarone results in increased expression of PSEN1 mRNA19774075
D000643Ammonium ChlorideAmmonium Chloride affects the expression of PSEN1 mRNA16483693
D018501Antirheumatic AgentsAntirheumatic Agents results in decreased expression of PSEN1 mRNA24449571
D001151Arsenic[Arsenic co-treated with Cadmium co-treated with Lead] promotes the reaction [PSEN1 protein results in increased metabolism of APP protein]25288670
C015001arsenitearsenite results in increased expression of PSEN1 mRNA18191166
D001280AtrazineAtrazine results in decreased expression of PSEN1 mRNA22378314
D001374AzacitidineAzacitidine results in decreased methylation of PSEN1 promoter19635394
D001374AzacitidineBetaine inhibits the reaction [Azacitidine results in decreased methylation of PSEN1 promoter]19635394
D0151237,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide"7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of PSEN1 mRNA"19150397
D001622BetaineBetaine inhibits the reaction [Azacitidine results in decreased methylation of PSEN1 promoter]19635394
D001622BetaineBetaine inhibits the reaction [S-Adenosylhomocysteine results in decreased methylation of PSEN1 promoter]19635394
D001688Biological ProductsBiological Products affects the localization of PSEN1 protein23041113
D001688Biological ProductsBiological Products results in decreased expression of PSEN1 mRNA23041113
D001688Biological Products[Biological Products results in decreased expression of PSEN1 mRNA] which results in decreased secretion of APP protein modified form23041113
D001688Biological ProductsBiological Products results in decreased expression of PSEN1 protein23041113
D001688Biological Products[Biological Products results in decreased expression of PSEN1 protein] which results in decreased secretion of APP protein modified form23041113
C006780bisphenol Abisphenol A affects the expression of PSEN1 mRNA25181051
C006780bisphenol Abisphenol A results in increased expression of PSEN1 mRNA29097150
C006780bisphenol Abisphenol A binds to PSEN1 protein19218331
D000069286BortezomibBortezomib results in decreased expression of PSEN1 mRNA20977926
D002104Cadmium[Arsenic co-treated with Cadmium co-treated with Lead] promotes the reaction [PSEN1 protein results in increased metabolism of APP protein]25288670
D019256Cadmium ChloridePSEN1 promotes the reaction [Cadmium Chloride results in increased cleavage of CDH1 protein]18791180
D002118Calcium"Phosphatidylinositol 4,5-Diphosphate inhibits the reaction [PSEN1 protein mutant form inhibits the reaction [TRPM7 protein affects the transport of Calcium]]"22102510
D002118CalciumPSEN1 gene mutant form promotes the reaction [TRPM7 protein affects the transport of Calcium]22102510
D002118CalciumPSEN1 protein mutant form inhibits the reaction [TRPM7 protein affects the transport of Calcium]22102510
D004390ChlorpyrifosChlorpyrifos results in increased expression of PSEN1 mRNA21356183
D004390Chlorpyrifos[Copper co-treated with Chlorpyrifos] results in increased expression of PSEN1 mRNA21356183
D003300Copper[Copper co-treated with Chlorpyrifos] results in increased expression of PSEN1 mRNA21356183
D003300CopperCopper results in increased expression of PSEN1 mRNA21356183
D003300CopperPSEN1 protein results in increased uptake of Copper21239495
D003300Copper[APP gene mutant form co-treated with PSEN1 gene mutant form] results in increased abundance of Copper23541064
D003300CopperCopper promotes the reaction [[PSEN1 gene mutant form co-treated with APP gene mutant form co-treated with MAPT gene mutant form] results in decreased expression of CPLX1 protein]25352456
D003300CopperCopper promotes the reaction [[PSEN1 gene mutant form co-treated with APP gene mutant form co-treated with MAPT gene mutant form] results in decreased expression of CPLX2 protein]25352456
D003300CopperPSEN1 protein results in increased uptake of Copper21239495
D019327Copper SulfateCopper Sulfate results in increased expression of PSEN1 mRNA19549813
C017160cypermethrincypermethrin results in increased expression of PSEN1 mRNA22528246
C093628cyproconazolecyproconazole results in increased expression of PSEN1 mRNA22334560
D003976DiazinonDiazinon affects the expression of PSEN1 mRNA22546817
D003993Dibutyl PhthalateDibutyl Phthalate results in increased expression of PSEN1 mRNA21266533
D004026DieldrinDieldrin results in increased expression of PSEN1 mRNA28385952
D004050DitiocarbDitiocarb inhibits the reaction [[Lipopolysaccharides co-treated with IFNG protein] results in increased expression of PSEN1 mRNA]28242320
D004237DiuronDiuron results in decreased expression of PSEN1 mRNA25152437
C109476epoxiconazoleepoxiconazole results in increased expression of PSEN1 mRNA22334560
D004997Ethinyl EstradiolEthinyl Estradiol results in decreased expression of PSEN1 mRNA20227414
D004997Ethinyl EstradiolEthinyl Estradiol results in increased expression of PSEN1 mRNA29097150
D011345FenofibrateFenofibrate affects the reaction [PSEN1 protein affects the cleavage of APP protein]17962197
D005485FlutamideFlutamide inhibits the reaction [Trenbolone Acetate analog results in decreased expression of PSEN1 protein]25461682
D005492Folic Acid[[Folic Acid deficiency co-treated with Vitamin B 12 deficiency] results in decreased abundance of S-Adenosylmethionine] which results in increased expression of PSEN1 protein15607954
C070081fulvestrantfulvestrant inhibits the reaction [Trenbolone Acetate analog results in decreased expression of PSEN1 protein]25461682
C081021Go 6976"Go 6976 inhibits the reaction [Phorbol 12,13-Dibutyrate results in increased expression of PSEN1 protein]"19476501
C081021Go 6976Go 6976 inhibits the reaction [Tretinoin results in increased expression of PSEN1 protein]19476501
C081021Go 6976Go 6976 inhibits the reaction [Tretinoin results in increased expression of PSEN1 protein]19476501
D015759Ionomycin[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of PSEN1 mRNA25613284
D007530IsofluranePSEN1 gene SNP affects the susceptibility to Isoflurane18227305
D007538IsoniazidIsoniazid affects the expression of PSEN1 mRNA24848797
D007545IsoproterenolIsoproterenol results in increased expression of PSEN1 mRNA21335049
C561695(+)-JQ1 compound(+)-JQ1 compound results in decreased expression of PSEN1 mRNA22802445
D007854LeadLead results in decreased expression of PSEN1 mRNA19921347
D007854Lead[Arsenic co-treated with Cadmium co-treated with Lead] promotes the reaction [PSEN1 protein results in increased metabolism of APP protein]25288670
D008070LipopolysaccharidesDitiocarb inhibits the reaction [[Lipopolysaccharides co-treated with IFNG protein] results in increased expression of PSEN1 mRNA]28242320
D008070Lipopolysaccharides[Lipopolysaccharides co-treated with IFNG protein] results in increased expression of PSEN1 mRNA28242320
D008070Lipopolysaccharidespimagedine inhibits the reaction [[Lipopolysaccharides co-treated with IFNG protein] results in increased expression of PSEN1 mRNA]28242320
D008070LipopolysaccharidesLipopolysaccharides results in decreased expression of PSEN1 mRNA12057914
D008070LipopolysaccharidesLipopolysaccharides results in increased expression of PSEN1 mRNA12057914
D008344Maneb[Maneb co-treated with Paraquat] results in increased expression of PSEN1 mRNA23963992
D008344ManebMelatonin inhibits the reaction [[Maneb co-treated with Paraquat] results in increased expression of PSEN1 mRNA]23963992
D008550MelatoninMelatonin inhibits the reaction [[Maneb co-treated with Paraquat] results in increased expression of PSEN1 mRNA]23963992
D008727MethotrexateMethotrexate results in increased expression of PSEN1 mRNA21678067
D008741Methyl MethanesulfonateMethyl Methanesulfonate results in increased expression of PSEN1 mRNA23649840
D018817N-Methyl-3,4-methylenedioxyamphetamine"N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of PSEN1 mRNA"20188158
C076881methysticinmethysticin inhibits the reaction [[PSEN1 protein co-treated with APP protein] results in increased secretion of IL17A protein]28448946
C076881methysticinmethysticin inhibits the reaction [[PSEN1 protein co-treated with APP protein] results in increased secretion of TNF protein]28448946
D008825MiconazoleMiconazole results in decreased expression of PSEN1 mRNA22262564
C406082monomethylarsonous acidmonomethylarsonous acid results in decreased expression of PSEN1 mRNA20024957
C484278N2-((2S)-2-(3,5-difluorophenyl)-2-hydroxyethanoyl)-N1-((7S)-5-methyl-6-oxo-6,7-dihydro-5H-dibenzo(b,d)azepin-7-yl)-L-alaninamide"PSEN1 gene mutant form results in decreased susceptibility to N2-((2S)-2-(3,5-difluorophenyl)-2-hydroxyethanoyl)-N1-((7S)-5-methyl-6-oxo-6,7-dihydro-5H-dibenzo(b,d)azepin-7-yl)-L-alaninamide"17573346
D037742Nanotubes, Carbon"Nanotubes, Carbon analog results in increased expression of PSEN1 mRNA"25554681
D037742Nanotubes, Carbon"Nanotubes, Carbon results in increased expression of PSEN1 mRNA"25554681
D009532NickelNickel results in decreased expression of PSEN1 mRNA23195993
C022838nickel chloridenickel chloride affects the expression of PSEN1 mRNA22546817
C014707nitrosobenzylmethylaminenitrosobenzylmethylamine results in increased expression of PSEN1 mRNA17616710
C072936notoginsenoside R1notoginsenoside R1 inhibits the reaction [[APP gene mutant form co-treated with PSEN1 gene mutant form] results in increased expression of APP protein modified form]25714973
C025589ochratoxin Aochratoxin A results in decreased expression of PSEN1 mRNA23358140
C030110oxaliplatinoxaliplatin results in increased expression of PSEN1 protein19147571
D010100OxygenOxygen deficiency affects the expression of PSEN1 mRNA17963755
D010126OzonePSEN1 results in increased susceptibility to Ozone26116027
D010269Paraquat[Maneb co-treated with Paraquat] results in increased expression of PSEN1 mRNA23963992
D010269ParaquatMelatonin inhibits the reaction [[Maneb co-treated with Paraquat] results in increased expression of PSEN1 mRNA]23963992
D010634PhenobarbitalPhenobarbital results in increased expression of PSEN1 mRNA19363144
D015240Phorbol 12,13-Dibutyrate"Go 6976 inhibits the reaction [Phorbol 12,13-Dibutyrate results in increased expression of PSEN1 protein]"19476501
D015240Phorbol 12,13-Dibutyrate"Phorbol 12,13-Dibutyrate results in increased expression of PSEN1 protein"19476501
D015240Phorbol 12,13-Dibutyrate"Phorbol 12,13-Dibutyrate results in increased expression of PSEN1 protein modified form"19476501
C004479pimagedinepimagedine inhibits the reaction [[Lipopolysaccharides co-treated with IFNG protein] results in increased expression of PSEN1 mRNA]28242320
D010936Plant ExtractsPlant Extracts results in increased expression of PSEN1 mRNA23557933
D011374ProgesteroneProgesterone inhibits the reaction [PSEN1 gene mutant form results in decreased metabolism of Progesterone metabolite]17988898
D011374ProgesteronePSEN1 gene mutant form results in decreased metabolism of Progesterone metabolite17988898
C045950propiconazolepropiconazole results in increased expression of PSEN1 mRNA19363144|2127805
D011441PropylthiouracilPropylthiouracil results in decreased expression of PSEN1 mRNA24780913
D019269Phosphatidylinositol 4,5-Diphosphate"Phosphatidylinositol 4,5-Diphosphate inhibits the reaction [PSEN1 protein mutant form inhibits the reaction [TRPM7 protein affects the transport of Calcium]]"22102510
D012524SarinSarin results in decreased expression of PSEN1 mRNA19522546
D012524SarinSarin results in decreased expression of PSEN1 protein19522546
D012822Silicon DioxideSilicon Dioxide results in increased expression of PSEN1 mRNA19073995
D012834SilverSilver results in decreased expression of PSEN1 mRNA27131904
D019821SimvastatinSimvastatin results in increased expression of PSEN1 mRNA19109527
C009277sodium arsenatesodium arsenate results in increased expression of PSEN1 mRNA23922661
D018038Sodium SeleniteSodium Selenite results in decreased expression of PSEN1 mRNA18175754
C025462sulindac sulfidesulindac sulfide affects the localization of PSEN1 protein18359496
C025462sulindac sulfidePSEN1 gene mutant form results in decreased susceptibility to sulindac sulfide17573346
C025462sulindac sulfidePSEN1 protein affects the reaction [sulindac sulfide affects the cleavage of APP protein]12805356
C025462sulindac sulfidePSEN1 protein mutant form promotes the reaction [sulindac sulfide affects the cleavage of APP protein]12805356
C025462sulindac sulfidesulindac sulfide affects the reaction [PSEN1 protein affects the cleavage of APP protein]17962197
C025462sulindac sulfidesulindac sulfide results in decreased activity of PSEN1 protein17573346
C025462sulindac sulfide[sulindac sulfide results in decreased activity of PSEN1 protein] which affects the cleavage of APP protein17573346
C031655tauroursodeoxycholic acidtauroursodeoxycholic acid inhibits the reaction [[APP gene mutant form co-treated with PSEN1 gene mutant form] results in decreased expression of BCL2 protein]16923170
C031655tauroursodeoxycholic acidtauroursodeoxycholic acid inhibits the reaction [[APP gene mutant form co-treated with PSEN1 gene mutant form] results in increased activity of CASP2 protein]16923170
C031655tauroursodeoxycholic acidtauroursodeoxycholic acid inhibits the reaction [[APP gene mutant form co-treated with PSEN1 gene mutant form] results in increased activity of CASP6 protein]16923170
C031655tauroursodeoxycholic acidtauroursodeoxycholic acid inhibits the reaction [[APP gene mutant form co-treated with PSEN1 gene mutant form] results in increased expression of BAX protein]16923170
C031655tauroursodeoxycholic acidtauroursodeoxycholic acid inhibits the reaction [[APP gene mutant form co-treated with PSEN1 gene mutant form] results in increased expression of TRP53 protein]16923170
D013739TestosteroneTestosterone affects the reaction [Trenbolone Acetate analog results in decreased expression of PSEN1 protein]25461682
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin affects the expression of PSEN1 mRNA21570461
D013755Tetradecanoylphorbol Acetate[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of PSEN1 mRNA25613284
D014050TolueneToluene affects the expression of PSEN1 mRNA21827849
D014204Trenbolone AcetateFlutamide inhibits the reaction [Trenbolone Acetate analog results in decreased expression of PSEN1 protein]25461682
D014204Trenbolone Acetatefulvestrant inhibits the reaction [Trenbolone Acetate analog results in decreased expression of PSEN1 protein]25461682
D014204Trenbolone AcetateTestosterone affects the reaction [Trenbolone Acetate analog results in decreased expression of PSEN1 protein]25461682
D014204Trenbolone AcetateTrenbolone Acetate analog inhibits the reaction [Dihydrotestosterone results in increased expression of PSEN1 protein]25461682
D014204Trenbolone AcetateTrenbolone Acetate analog results in decreased expression of PSEN1 protein25461682
D014204Trenbolone Acetatetrilostane inhibits the reaction [Trenbolone Acetate analog inhibits the reaction [Dihydrotestosterone results in increased expression of PSEN1 protein]]25461682
D014212TretinoinGo 6976 inhibits the reaction [Tretinoin results in increased expression of PSEN1 protein]19476501
D014212TretinoinTretinoin affects the localization of PSEN1 protein19476501
D014212TretinoinTretinoin results in increased expression of PSEN1 mRNA19476501
D014212TretinoinTretinoin results in increased expression of PSEN1 protein19476501
D014212TretinoinTretinoin results in increased expression of PSEN1 protein modified form19476501
D014212TretinoinGo 6976 inhibits the reaction [Tretinoin results in increased expression of PSEN1 protein]19476501
D014212TretinoinTretinoin results in increased expression of PSEN1 protein19476501
D014212TretinoinTretinoin results in increased expression of PSEN1 protein modified form19476501
C032910triadimefontriadimefon results in increased expression of PSEN1 mRNA19363144
C012589trichostatin Atrichostatin A results in decreased expression of PSEN1 mRNA24935251
C009954trilostanetrilostane inhibits the reaction [Trenbolone Acetate analog inhibits the reaction [Dihydrotestosterone results in increased expression of PSEN1 protein]]25461682
C016805tris(1,3-dichloro-2-propyl)phosphate"tris(1,3-dichloro-2-propyl)phosphate results in increased expression of PSEN1 mRNA"26179874
D014415TunicamycinATF4 protein affects the reaction [[Tunicamycin co-treated with APP protein modified form] results in increased expression of PSEN1 mRNA]22115781
D014415Tunicamycin[Tunicamycin co-treated with APP protein modified form] results in increased expression of PSEN1 mRNA22115781
D014415TunicamycinTunicamycin results in increased expression of PSEN1 protein22115781
D014520UrethaneUrethane results in increased expression of PSEN1 mRNA28818685
D014635Valproic AcidValproic Acid results in decreased expression of PSEN1 mRNA23179753
C025643vinclozolinvinclozolin results in decreased expression of PSEN1 mRNA23034163
D014805Vitamin B 12[[Folic Acid deficiency co-treated with Vitamin B 12 deficiency] results in decreased abundance of S-Adenosylmethionine] which results in increased expression of PSEN1 protein15607954
D015032ZincPSEN1 protein results in increased uptake of Zinc21239495
D015032ZincPSEN1 protein results in increased uptake of Zinc21239495
D015032ZincPSEN1 protein mutant form inhibits the reaction [TRPM7 protein affects the transport of Zinc]22102510

GO/Pathway

GO ID GO Term Qualifier Evidence PubMed
GO:0004175endopeptidase activity-IBA21873635  
GO:0004175endopeptidase activity-IDA8755489  
GO:0004190aspartic-type endopeptidase activity-NAS24217950  
GO:0004190aspartic-type endopeptidase activity-TAS-  
GO:0005262calcium channel activity-IMP16959576  
GO:0005515protein binding-IPI9223340  9437013  9689133  10092585  10369872  10508860  
11076969  11083918  12196555  12297508  16007100  16641999  
18201567  21115843  21143716  21163940  
GO:0008013beta-catenin binding-IBA21873635  
GO:0008013beta-catenin binding-IPI9632714  11104755  
GO:0030165PDZ domain binding-IPI10551805  
GO:0042500aspartic endopeptidase activity, intramembrane cleaving-IDA26280335  
GO:0045296cadherin binding-IBA21873635  
GO ID GO Term Qualifier Evidence PubMed
GO:0000045autophagosome assembly-IEA-  
GO:0000122negative regulation of transcription by RNA polymerase II-IMP10508860  
GO:0000186activation of MAPKK activity-IEA-  
GO:0001568blood vessel development-IEA-  
GO:0001708cell fate specification-IEA-  
GO:0001756somitogenesis-IEA-  
GO:0001764neuron migration-IEA-  
GO:0001921positive regulation of receptor recycling-IEA-  
GO:0001947heart looping-IEA-  
GO:0002038positive regulation of L-glutamate import across plasma membrane-IEA-  
GO:0002244hematopoietic progenitor cell differentiation-IEA-  
GO:0002265astrocyte activation involved in immune response-IGI23152628  
GO:0002286T cell activation involved in immune response-IEA-  
GO:0003407neural retina development-IEA-  
GO:0006486protein glycosylation-IEA-  
GO:0006509membrane protein ectodomain proteolysis-IDA15274632  
GO:0006839mitochondrial transport-IEA-  
GO:0006974cellular response to DNA damage stimulus-IEA-  
GO:0006979response to oxidative stress-IEA-  
GO:0007175negative regulation of epidermal growth factor-activated receptor activity-IEA-  
GO:0007219Notch signaling pathway-TAS-  
GO:0007220Notch receptor processing-TAS15274632  
GO:0007611learning or memory-IGI20445063  24012003  24052308  
GO:0007611learning or memory-TAS24012003  
GO:0007613memory-IGI11880515  
GO:0009791post-embryonic development-IEA-  
GO:0015031protein transport-IEA-  
GO:0015871choline transport-IEA-  
GO:0016080synaptic vesicle targeting-IEA-  
GO:0016485protein processing-IDA15274632  
GO:0021795cerebral cortex cell migration-IEA-  
GO:0021870Cajal-Retzius cell differentiation-IEA-  
GO:0021904dorsal/ventral neural tube patterning-IEA-  
GO:0030326embryonic limb morphogenesis-IEA-  
GO:0032092positive regulation of protein binding-IGI24052308  
GO:0032436positive regulation of proteasomal ubiquitin-dependent protein catabolic process-IEA-  
GO:0032469endoplasmic reticulum calcium ion homeostasis-IDA17431506  
GO:0032469endoplasmic reticulum calcium ion homeostasis-IGI16959576  
GO:0033160positive regulation of protein import into nucleus, translocation-IMP10508860  
GO:0034205amyloid-beta formation-IMP26280335  
GO:0035333Notch receptor processing, ligand-dependent-TAS-  
GO:0035556intracellular signal transduction-IEA-  
GO:0042325regulation of phosphorylation-IDA9689133  
GO:0042327positive regulation of phosphorylation-IGI25707991  
GO:0042982amyloid precursor protein metabolic process-IDA26280335  
GO:0042987amyloid precursor protein catabolic process-TAS15274632  
GO:0043011myeloid dendritic cell differentiation-IEA-  
GO:0043065positive regulation of apoptotic process-IEA-  
GO:0043066negative regulation of apoptotic process-IDA10805794  
GO:0043066negative regulation of apoptotic process-IMP10508860  
GO:0043085positive regulation of catalytic activity-IDA15274632  
GO:0043312neutrophil degranulation-TAS-  
GO:0043524negative regulation of neuron apoptotic process-IEA-  
GO:0043589skin morphogenesis-IEA-  
GO:0045893positive regulation of transcription, DNA-templated-IMP23794287  
GO:0048143astrocyte activation-IGI20445063  
GO:0048167regulation of synaptic plasticity-IEA-  
GO:0048538thymus development-IEA-  
GO:0048666neuron development-IEA-  
GO:0048705skeletal system morphogenesis-IEA-  
GO:0048854brain morphogenesis-IEA-  
GO:0050673epithelial cell proliferation-IEA-  
GO:0050771negative regulation of axonogenesis-IEA-  
GO:0050808synapse organization-IGI24012003  
GO:0050820positive regulation of coagulation-IEA-  
GO:0050852T cell receptor signaling pathway-IEA-  
GO:0051402neuron apoptotic process-IEA-  
GO:0051444negative regulation of ubiquitin-protein transferase activity-IEA-  
GO:0051563smooth endoplasmic reticulum calcium ion homeostasis-IBA21873635  
GO:0051966regulation of synaptic transmission, glutamatergic-IEA-  
GO:0060070canonical Wnt signaling pathway-IBA21873635  
GO:0060075regulation of resting membrane potential-IEA-  
GO:0060828regulation of canonical Wnt signaling pathway-ISS-  
GO:0060999positive regulation of dendritic spine development-IMP21951279  
GO:0070588calcium ion transmembrane transport-IEA-  
GO:0090647modulation of age-related behavioral decline-IGI11880515  20445063  24012003  
GO:0090647modulation of age-related behavioral decline-TAS24012003  
GO:0098609cell-cell adhesion-IMP11953314  
GO:1904646cellular response to amyloid-beta-IGI23152628  
GO:1904797negative regulation of core promoter binding-IMP10508860  
GO:1905598negative regulation of low-density lipoprotein receptor activityNOTIGI20005821  
GO:1905908positive regulation of amyloid fibril formation-IGI11880515  
GO:1990535neuron projection maintenance-IGI20445063  
GO:2000059negative regulation of ubiquitin-dependent protein catabolic process-IEA-  
GO:2001234negative regulation of apoptotic signaling pathway-IEA-  
GO ID GO Term Qualifier Evidence PubMed
GO:0000139Golgi membrane-IEA-  
GO:0000776kinetochore-IDA9298903  
GO:0005634nucleus-IBA21873635  
GO:0005634nucleus-IDA-  
GO:0005634nucleus-IMP10508860  
GO:0005640nuclear outer membrane-IDA9246482  
GO:0005739mitochondrion-IDA12377771  
GO:0005783endoplasmic reticulum-IBA21873635  
GO:0005783endoplasmic reticulum-IDA9246482  15274632  
GO:0005789endoplasmic reticulum membrane-IEA-  
GO:0005790smooth endoplasmic reticulum-IDA9632714  
GO:0005790smooth endoplasmic reticulumcolocalizes_withIDA10508860  
GO:0005791rough endoplasmic reticulum-IDA9632714  
GO:0005794Golgi apparatus-IDA9246482  9632714  15274632  
GO:0005813centrosome-IDA9298903  
GO:0005886plasma membrane-IDA21143716  
GO:0005886plasma membrane-TAS-  
GO:0005887integral component of plasma membrane-IBA21873635  
GO:0005887integral component of plasma membrane-IDA15274632  
GO:0016020membrane-IDA22375059  
GO:0016021integral component of membrane-IDA26280335  
GO:0016021integral component of membrane-TAS7596406  
GO:0016235aggresome-IDA21143716  
GO:0030054cell junction-IDA-  
GO:0031965nuclear membrane-IDA9298903  
GO:0032991protein-containing complex-IMP10508860  
GO:0035577azurophil granule membrane-TAS-  
GO:0045121membrane raft-IDA20299451  
GO:0070765gamma-secretase complex-IDA10801983  26280335  
GO:0098793presynapse-IEA-  
KEGG ID KEGG Term
hsa04310Wnt signaling pathway
hsa04330Notch signaling pathway
hsa04722Neurotrophin signaling pathway
hsa05010Alzheimer's disease
Reactome ID Reactome Term Evidence
R-HSA-1236394Signaling by ERBB4TAS
R-HSA-1251985Nuclear signaling by ERBB4TAS
R-HSA-1266738Developmental BiologyTAS
R-HSA-1474228Degradation of the extracellular matrixIEA
R-HSA-1474244Extracellular matrix organizationIEA
R-HSA-157118Signaling by NOTCHIEA
R-HSA-157118Signaling by NOTCHTAS
R-HSA-162582Signal TransductionIEA
R-HSA-162582Signal TransductionTAS
R-HSA-1643685DiseaseTAS
R-HSA-168249Innate Immune SystemTAS
R-HSA-168256Immune SystemTAS
R-HSA-193692Regulated proteolysis of p75NTRTAS
R-HSA-193704p75 NTR receptor-mediated signallingTAS
R-HSA-1980143Signaling by NOTCH1IEA
R-HSA-1980145Signaling by NOTCH2IEA
R-HSA-1980150Signaling by NOTCH4TAS
R-HSA-204998Cell death signalling via NRAGE, NRIF and NADETAS
R-HSA-205043NRIF signals cell death from the nucleusTAS
R-HSA-2122948Activated NOTCH1 Transmits Signal to the NucleusIEA
R-HSA-2644602Signaling by NOTCH1 PEST Domain Mutants in CancerTAS
R-HSA-2644603Signaling by NOTCH1 in CancerTAS
R-HSA-2644606Constitutive Signaling by NOTCH1 PEST Domain MutantsTAS
R-HSA-2682334EPH-Ephrin signalingTAS
R-HSA-2894858Signaling by NOTCH1 HD+PEST Domain Mutants in CancerTAS
R-HSA-2894862Constitutive Signaling by NOTCH1 HD+PEST Domain MutantsTAS
R-HSA-2979096NOTCH2 Activation and Transmission of Signal to the NucleusIEA
R-HSA-3928665EPH-ephrin mediated repulsion of cellsTAS
R-HSA-422475Axon guidanceTAS
R-HSA-5663202Diseases of signal transductionTAS
R-HSA-6798695Neutrophil degranulationTAS
R-HSA-73887Death Receptor SignallingTAS
R-HSA-9006934Signaling by Receptor Tyrosine KinasesTAS
R-HSA-9012852Signaling by NOTCH3TAS
R-HSA-9013507NOTCH3 Activation and Transmission of Signal to the NucleusTAS
R-HSA-9017802Noncanonical activation of NOTCH3TAS

Interactions (STRING v10.5, Interaction Score >= 0.400)

Publications (Co-occurrence of gene symbol strings and ANCO-Dependence terms)

PMID Title (Year) Author Journal
26350633Three novel presenilin 1 mutations marking the wide spectrum of age at onset and clinical patterns in familial Alzheimer's disease. (2015 Dec)Roeber SJ Neural Transm (Vienna)
23919770Epidemiology and etiology of Alzheimer's disease: from genetic to non-genetic factors. (2013 Oct)Jiang TCurr Alzheimer Res