Details for: PSEN1

Gene ID: 5663

Symbol: PSEN1

Ensembl ID: ENSG00000080815

Description: presenilin 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 297.0197
    Cell Significance Index: -46.2000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 178.9520
    Cell Significance Index: -45.3900
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 106.6519
    Cell Significance Index: -43.9400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 101.6050
    Cell Significance Index: -47.9700
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 98.2444
    Cell Significance Index: -39.9100
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 87.5997
    Cell Significance Index: -45.0600
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 71.5774
    Cell Significance Index: -48.0300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 41.8804
    Cell Significance Index: -39.9900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 38.2333
    Cell Significance Index: -47.1400
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 16.6451
    Cell Significance Index: -44.5900
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 14.1920
    Cell Significance Index: -43.5900
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 13.3100
    Cell Significance Index: -29.1300
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 12.0500
    Cell Significance Index: -47.5500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.6911
    Cell Significance Index: 339.2400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.6538
    Cell Significance Index: 1493.2300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.3156
    Cell Significance Index: 37.9100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.2988
    Cell Significance Index: 257.7600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.0781
    Cell Significance Index: 117.2600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 1.0236
    Cell Significance Index: 57.4400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.9183
    Cell Significance Index: 19.9000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.8709
    Cell Significance Index: 312.3900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.8162
    Cell Significance Index: 564.4800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.7110
    Cell Significance Index: 19.8700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.6815
    Cell Significance Index: 52.3000
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.6528
    Cell Significance Index: 12.7400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.5893
    Cell Significance Index: 26.7100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5612
    Cell Significance Index: 91.2800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.5204
    Cell Significance Index: 93.8100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.5081
    Cell Significance Index: 13.0600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.4911
    Cell Significance Index: 60.3900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.4888
    Cell Significance Index: 25.3900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4571
    Cell Significance Index: 45.2200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.4148
    Cell Significance Index: 27.8900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.3789
    Cell Significance Index: 16.7600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.3570
    Cell Significance Index: 21.9400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.3180
    Cell Significance Index: 12.0400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3048
    Cell Significance Index: 166.4400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.2547
    Cell Significance Index: 6.8300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2314
    Cell Significance Index: 31.7800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.2248
    Cell Significance Index: 7.9000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.2195
    Cell Significance Index: 99.6100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1925
    Cell Significance Index: 85.1300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.1799
    Cell Significance Index: 11.6100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1605
    Cell Significance Index: 11.1000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1282
    Cell Significance Index: 24.4000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1262
    Cell Significance Index: 237.6400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0816
    Cell Significance Index: 2.1800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0749
    Cell Significance Index: 47.5900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0658
    Cell Significance Index: 121.3300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.0629
    Cell Significance Index: 3.2700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0582
    Cell Significance Index: 89.6500
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.0460
    Cell Significance Index: 0.8500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0373
    Cell Significance Index: 1.7500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0257
    Cell Significance Index: 34.8900
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.0221
    Cell Significance Index: 0.1800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0347
    Cell Significance Index: -5.0500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0385
    Cell Significance Index: -4.9300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0429
    Cell Significance Index: -31.4900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0431
    Cell Significance Index: -5.5700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0482
    Cell Significance Index: -36.5200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0543
    Cell Significance Index: -40.1900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0824
    Cell Significance Index: -51.4600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0828
    Cell Significance Index: -46.7200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0914
    Cell Significance Index: -4.2600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0969
    Cell Significance Index: -9.9000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0992
    Cell Significance Index: -16.9400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1196
    Cell Significance Index: -2.0500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1306
    Cell Significance Index: -37.5900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1554
    Cell Significance Index: -18.1200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1691
    Cell Significance Index: -19.9400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2180
    Cell Significance Index: -16.2500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2409
    Cell Significance Index: -50.7400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.2477
    Cell Significance Index: -3.3800
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.2652
    Cell Significance Index: -2.7500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2927
    Cell Significance Index: -18.4500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.2953
    Cell Significance Index: -6.2900
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.3141
    Cell Significance Index: -6.7200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3289
    Cell Significance Index: -37.6900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.3300
    Cell Significance Index: -23.3400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.3580
    Cell Significance Index: -9.7500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3596
    Cell Significance Index: -37.4400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.3600
    Cell Significance Index: -9.0000
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.3736
    Cell Significance Index: -8.9600
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.3859
    Cell Significance Index: -4.6000
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.4170
    Cell Significance Index: -3.8400
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.4575
    Cell Significance Index: -9.4900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.5140
    Cell Significance Index: -15.1400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.5398
    Cell Significance Index: -42.7500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.5442
    Cell Significance Index: -15.5300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.5741
    Cell Significance Index: -19.9500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.5744
    Cell Significance Index: -30.1600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.5817
    Cell Significance Index: -18.6300
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.5905
    Cell Significance Index: -8.4800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.6534
    Cell Significance Index: -18.7300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.7051
    Cell Significance Index: -18.5400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.7308
    Cell Significance Index: -12.2300
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: -0.7667
    Cell Significance Index: -8.2200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.7702
    Cell Significance Index: -47.2200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.8360
    Cell Significance Index: -27.3700
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: -0.8490
    Cell Significance Index: -9.0200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Location and Expression**: PSEN1 is primarily expressed in the central nervous system (CNS), including neurons, astrocytes, and oligodendrocytes. 2. **Function**: PSEN1 acts as a gamma-secretase, a complex that cleaves various proteins, including amyloid precursor protein (APP), to produce amyloid-beta peptides. These peptides are associated with Alzheimer's disease. 3. **Notch Signaling**: PSEN1 is a key component of the Notch signaling pathway, which transduces signals from cell-to-cell interactions to regulate cell fate decisions, proliferation, and differentiation. **Pathways and Functions** 1. **Notch Signaling Pathway**: PSEN1 is involved in the processing and transmission of Notch signals, which regulate cell fate decisions, proliferation, and differentiation in various tissues, including the CNS, immune system, and epithelial tissues. 2. **Amyloid-beta Formation**: PSEN1 is responsible for the cleavage of APP, leading to the production of amyloid-beta peptides, which are associated with Alzheimer's disease. 3. **Cell Death Signaling**: PSEN1 is involved in the regulation of cell death signaling pathways, including the activation of death receptors and the regulation of apoptosis. 4. **Immune System**: PSEN1 is expressed in immune cells, including T cells and macrophages, and is involved in the regulation of immune responses, including inflammation and cytokine production. **Clinical Significance** 1. **Alzheimer's Disease**: Mutations in PSEN1 are associated with early-onset familial Alzheimer's disease, a rare and aggressive form of the disease. 2. **Immune System Disorders**: Alterations in PSEN1 expression and function have been implicated in various immune system disorders, including autoimmune diseases, such as multiple sclerosis and rheumatoid arthritis. 3. **Cancer**: PSEN1 is involved in the regulation of cell death signaling pathways, and alterations in PSEN1 expression have been linked to cancer development and progression. In conclusion, PSEN1 is a critical gene involved in various cellular processes, including cell signaling, differentiation, and survival. Its dysregulation has been implicated in various diseases, including Alzheimer's disease, immune system disorders, and cancer. Further research is needed to fully understand the functional significance of PSEN1 and its role in human disease.

Genular Protein ID: 86159603

Symbol: PSN1_HUMAN

Name: Presenilin-1

UniProtKB Accession Codes:

P49768 B2R6D3 O95465 Q14762 Q15719 Q15720 Q96P33 Q9UIF0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 2 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 DrugBank 1 ELM 1 EMBL 23 EMDB 16 Ensembl 27 EvolutionaryTrace 1 ExpressionAtlas 1 GO 100 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MEROPS 1 MIM 11 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NIAGADS 1 OMA 1 OpenTargets 1 Orphanet 5 OrthoDB 1 PANTHER 2 PDB 21 PDBsum 21 PIR 3 PRINTS 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 7 Pumba 1 RNAct 1 Reactome 14 RefSeq 8 SIGNOR 1 SMART 1 SMR 1 STRING 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7596406

Title: Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.

PubMed ID: 7596406

DOI: 10.1038/375754a0

PubMed ID: 8641442

Title: Identification and characterization of presenilin I-467, I-463 and I-374.

PubMed ID: 8641442

DOI: 10.1016/0014-5793(96)00054-3

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12508121

Title: The DNA sequence and analysis of human chromosome 14.

PubMed ID: 12508121

DOI: 10.1038/nature01348

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9070286

Title: Cloning of Xenopus presenilin-alpha and -beta cDNAs and their differential expression in oogenesis and embryogenesis.

PubMed ID: 9070286

DOI: 10.1006/bbrc.1996.6043

PubMed ID: 8804415

Title: Alzheimer's presenilin 1 gene expression in platelets and megakaryocytes. Identification of a novel splice variant.

PubMed ID: 8804415

DOI: 10.1016/0014-5793(96)00845-9

PubMed ID: 15274632

Title: Purification and characterization of the human gamma-secretase complex.

PubMed ID: 15274632

DOI: 10.1021/bi0494976

PubMed ID: 8574969

Title: Alzheimer-associated presenilins 1 and 2: neuronal expression in brain and localization to intracellular membranes in mammalian cells.

PubMed ID: 8574969

DOI: 10.1038/nm0296-224

PubMed ID: 9173929

Title: Presenilin proteins undergo heterogeneous endoproteolysis between Thr291 and Ala299 and occur as stable N- and C-terminal fragments in normal and Alzheimer brain tissue.

PubMed ID: 9173929

DOI: 10.1006/nbdi.1997.0129

PubMed ID: 9144240

Title: Proteolytic processing of the Alzheimer disease-associated presenilin-1 generates an in vivo substrate for protein kinase C.

PubMed ID: 9144240

DOI: 10.1073/pnas.94.10.5349

PubMed ID: 9485372

Title: Alzheimer's disease associated presenilin-1 holoprotein and its 18-20 kDa C-terminal fragment are death substrates for proteases of the caspase family.

PubMed ID: 9485372

DOI: 10.1021/bi972106l

PubMed ID: 9738936

Title: Direct association of presenilin-1 with beta-catenin.

PubMed ID: 9738936

DOI: 10.1016/s0014-5793(98)00886-2

PubMed ID: 9437013

Title: Interaction of presenilins with the filamin family of actin-binding proteins.

PubMed ID: 9437013

DOI: 10.1523/jneurosci.18-03-00914.1998

PubMed ID: 10545183

Title: Amyloidogenic function of the Alzheimer's disease-associated presenilin 1 in the absence of endoproteolysis.

PubMed ID: 10545183

DOI: 10.1021/bi9914210

PubMed ID: 10551805

Title: Identification of a novel PSD-95/Dlg/ZO-1 (PDZ)-like protein interacting with the C terminus of presenilin-1.

PubMed ID: 10551805

DOI: 10.1074/jbc.274.46.32543

PubMed ID: 10593990

Title: Cell surface presenilin-1 participates in the gamma-secretase-like proteolysis of Notch.

PubMed ID: 10593990

DOI: 10.1074/jbc.274.51.36801

PubMed ID: 10037471

Title: Presenilins interact with armadillo proteins including neural-specific plakophilin-related protein and beta-catenin.

PubMed ID: 10037471

DOI: 10.1046/j.1471-4159.1999.0720999.x

PubMed ID: 10206644

Title: Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and gamma-secretase activity.

PubMed ID: 10206644

DOI: 10.1038/19077

PubMed ID: 10899933

Title: Aspartate mutations in presenilin and gamma-secretase inhibitors both impair notch1 proteolysis and nuclear translocation with relative preservation of notch1 signaling.

PubMed ID: 10899933

DOI: 10.1046/j.1471-4159.2000.0750583.x

PubMed ID: 10811883

Title: Separation of presenilin function in amyloid beta-peptide generation and endoproteolysis of Notch.

PubMed ID: 10811883

DOI: 10.1073/pnas.100049897

PubMed ID: 11987239

Title: Identification of the presenilins in hematopoietic cells with localization of presenilin 1 to neutrophil and platelet granules.

PubMed ID: 11987239

DOI: 10.1006/bcmd.2002.0486

PubMed ID: 11953314

Title: A presenilin-1/gamma-secretase cleavage releases the E-cadherin intracellular domain and regulates disassembly of adherens junctions.

PubMed ID: 11953314

DOI: 10.1093/emboj/21.8.1948

PubMed ID: 11799129

Title: Endoplasmic reticulum stress-inducible protein, Herp, enhances presenilin-mediated generation of amyloid beta-protein.

PubMed ID: 11799129

DOI: 10.1074/jbc.m112372200

PubMed ID: 12058025

Title: A new splice variant of glial fibrillary acidic protein GFAPepsilon, interacts with the presenilin proteins.

PubMed ID: 12058025

DOI: 10.1074/jbc.m112121200

PubMed ID: 14515347

Title: Presenilin 1 is involved in maturation and trafficking of N-cadherin to the plasma membrane.

PubMed ID: 14515347

DOI: 10.1002/jnr.10753

PubMed ID: 12679784

Title: Reconstitution of gamma-secretase activity.

PubMed ID: 12679784

DOI: 10.1038/ncb960

PubMed ID: 12740439

Title: Gamma-secretase is a membrane protein complex comprised of presenilin, nicastrin, Aph-1, and Pen-2.

PubMed ID: 12740439

DOI: 10.1073/pnas.1037392100

PubMed ID: 14759258

Title: An unappreciated role for RNA surveillance.

PubMed ID: 14759258

DOI: 10.1186/gb-2004-5-2-r8

PubMed ID: 15004326

Title: A novel highly pathogenic Alzheimer presenilin-1 mutation in codon 117 (Pro117Ser): Comparison of clinical, neuropathological and cell culture phenotypes of Pro117Leu and Pro117Ser mutations.

PubMed ID: 15004326

DOI: 10.3233/jad-2004-6105

PubMed ID: 14576165

Title: Phosphorylation of presenilin 1 at the caspase recognition site regulates its proteolytic processing and the progression of apoptosis.

PubMed ID: 14576165

DOI: 10.1074/jbc.m306653200

PubMed ID: 15385547

Title: Consensus analysis of signal peptide peptidase and homologous human aspartic proteases reveals opposite topology of catalytic domains compared with presenilins.

PubMed ID: 15385547

DOI: 10.1074/jbc.m407898200

PubMed ID: 15341515

Title: Conserved residues within the putative active site of gamma-secretase differentially influence enzyme activity and inhibitor binding.

PubMed ID: 15341515

DOI: 10.1111/j.1471-4159.2004.02596.x

PubMed ID: 16126725

Title: Cadherins mediate both the association between PS1 and beta-catenin and the effects of PS1 on beta-catenin stability.

PubMed ID: 16126725

DOI: 10.1074/jbc.m507503200

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 16959576

Title: Presenilins form ER Ca2+ leak channels, a function disrupted by familial Alzheimer's disease-linked mutations.

PubMed ID: 16959576

DOI: 10.1016/j.cell.2006.06.059

PubMed ID: 16305624

Title: C-terminal PAL motif of presenilin and presenilin homologues required for normal active site conformation.

PubMed ID: 16305624

DOI: 10.1111/j.1471-4159.2005.03548.x

PubMed ID: 8875251

Title: The presenilin genes: a new gene family involved in Alzheimer disease pathology.

PubMed ID: 8875251

DOI: 10.1093/hmg/5.supplement_1.1449

PubMed ID: 9521418

Title: Presenilin mutations in Alzheimer's disease.

PubMed ID: 9521418

DOI: 10.1002/(sici)1098-1004(1998)11:3<183::aid-humu1>3.0.co;2-j

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20299451

Title: Human CRB2 inhibits gamma-secretase cleavage of amyloid precursor protein by binding to the presenilin complex.

PubMed ID: 20299451

DOI: 10.1074/jbc.m109.038760

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 20929727

Title: Gamma-secretase gene mutations in familial acne inversa.

PubMed ID: 20929727

DOI: 10.1126/science.1196284

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 21143716

Title: Alzheimer's disease-associated ubiquilin-1 regulates presenilin-1 accumulation and aggresome formation.

PubMed ID: 21143716

DOI: 10.1111/j.1600-0854.2010.01149.x

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 25394380

Title: G206D mutation of presenilin-1 reduces Pen2 interaction, increases Abeta42/Abeta40 ratio and elevates ER Ca(2+) accumulation.

PubMed ID: 25394380

DOI: 10.1007/s12035-014-8969-1

PubMed ID: 25043039

Title: Three-dimensional structure of human gamma-secretase.

PubMed ID: 25043039

DOI: 10.1038/nature13567

PubMed ID: 26623517

Title: Sampling the conformational space of the catalytic subunit of human gamma-secretase.

PubMed ID: 26623517

DOI: 10.7554/elife.11182

PubMed ID: 26280335

Title: An atomic structure of human gamma-secretase.

PubMed ID: 26280335

DOI: 10.1038/nature14892

PubMed ID: 25918421

Title: Structural basis of human gamma-secretase assembly.

PubMed ID: 25918421

DOI: 10.1073/pnas.1506242112

PubMed ID: 30598546

Title: Structural basis of Notch recognition by human gamma-secretase.

PubMed ID: 30598546

DOI: 10.1038/s41586-018-0813-8

PubMed ID: 30630874

Title: Recognition of the amyloid precursor protein by human gamma-secretase.

PubMed ID: 30630874

DOI: 10.1126/science.aaw0930

PubMed ID: 8634711

Title: Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3.

PubMed ID: 8634711

DOI: 10.1093/hmg/4.12.2363

PubMed ID: 8634712

Title: Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.

PubMed ID: 8634712

DOI: 10.1093/hmg/4.12.2373

PubMed ID: 7651536

Title: Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.

PubMed ID: 7651536

DOI: 10.1038/376775a0

PubMed ID: 7550356

Title: The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families.

PubMed ID: 7550356

DOI: 10.1038/ng1095-219

PubMed ID: 8837617

Title: The E280A presenilin 1 Alzheimer mutation produces increased A beta 42 deposition and severe cerebellar pathology.

PubMed ID: 8837617

DOI: 10.1038/nm1096-1146

PubMed ID: 8733303

Title: Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families.

PubMed ID: 8733303

DOI: 10.1016/0304-3940(96)12587-8

PubMed ID: 9225696

Title: Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation.

PubMed ID: 9225696

DOI: 10.1002/ana.410420121

PubMed ID: 9298817

Title: E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles.

PubMed ID: 9298817

DOI: 10.1002/(sici)1098-1004(1997)10:3<186::aid-humu2>3.0.co;2-h

PubMed ID: 9172170

Title: Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype.

PubMed ID: 9172170

DOI: 10.1097/00001756-199704140-00043

PubMed ID: 9833068

Title: A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease.

PubMed ID: 9833068

PubMed ID: 9851443

Title: The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease.

PubMed ID: 9851443

DOI: 10.1002/ana.410440617

PubMed ID: 9851450

Title: Missense mutation E318G of the presenilin-1 gene appears to be a nonpathogenic polymorphism.

PubMed ID: 9851450

DOI: 10.1002/ana.410440624

PubMed ID: 9384602

Title: Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.

PubMed ID: 9384602

DOI: 10.1093/hmg/7.1.43

PubMed ID: 9521423

Title: Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene.

PubMed ID: 9521423

DOI: 10.1002/(sici)1098-1004(1998)11:3<216::aid-humu6>3.0.co;2-f

PubMed ID: 10200054

Title: Missense mutation in exon 11 (codon 378) of the presenilin-1 gene in a French family with early-onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification.

PubMed ID: 10200054

DOI: 10.1002/(sici)1098-1004(1998)11:6<481::aid-humu12>3.0.co;2-q

PubMed ID: 9719376

Title: De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases.

PubMed ID: 9719376

DOI: 10.1136/jmg.35.8.672

PubMed ID: 9507958

Title: A novel Polish presenilin-1 mutation (P117L) is associated with familial Alzheimer's disease and leads to death as early as the age of 28 years.

PubMed ID: 9507958

DOI: 10.1097/00001756-199801260-00008

PubMed ID: 9831473

Title: Two novel presenilin-1 mutations (Ser169Leu and Pro436Gln) associated with very early onset Alzheimer's disease.

PubMed ID: 9831473

DOI: 10.1097/00001756-199810050-00034

PubMed ID: 9915968

Title: The Glu318Gly substitution in presenilin 1 is not causally related to Alzheimer disease.

PubMed ID: 9915968

DOI: 10.1086/302200

PubMed ID: 10441572

Title: Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum.

PubMed ID: 10441572

DOI: 10.1086/302553

PubMed ID: 10090481

Title: Pathogenic presenilin 1 mutations (P436S and I143F) in early-onset Alzheimer's disease in the UK.

PubMed ID: 10090481

DOI: 10.1002/(sici)1098-1004(1999)13:3<256::aid-humu11>3.0.co;2-p

PubMed ID: 10447269

Title: A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease.

PubMed ID: 10447269

DOI: 10.1002/(sici)1098-1004(1999)14:1<90::aid-humu19>3.0.co;2-s

PubMed ID: 10533070

Title: DGGE method for the mutational analysis of the coding and proximal promoter regions of the Alzheimer's disease presenilin-1 gene: two novel mutations.

PubMed ID: 10533070

DOI: 10.1002/(sici)1098-1004(199911)14:5<433::aid-humu10>3.0.co;2-k

PubMed ID: 10025789

Title: A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures.

PubMed ID: 10025789

DOI: 10.1212/wnl.52.3.566

PubMed ID: 10208579

Title: Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the presenilin-1 gene.

PubMed ID: 10208579

DOI: 10.1097/00001756-199902250-00011

PubMed ID: 10439444

Title: A presenilin-1 Thr116Asn substitution in a family with early-onset Alzheimer's disease.

PubMed ID: 10439444

DOI: 10.1097/00001756-199908020-00006

PubMed ID: 10631141

Title: High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.

PubMed ID: 10631141

DOI: 10.1086/302702

PubMed ID: 10644793

Title: Novel presenilin-1 mutation with widespread cortical amyloid deposition but limited cerebral amyloid angiopathy.

PubMed ID: 10644793

DOI: 10.1136/jnnp.68.2.220

PubMed ID: 11027672

Title: The presenilin 1 C92S mutation increases abeta 42 production.

PubMed ID: 11027672

DOI: 10.1006/bbrc.2000.3646

PubMed ID: 11094121

Title: Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation.

PubMed ID: 11094121

DOI: 10.1212/wnl.55.10.1577

PubMed ID: 11568920

Title: Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia.

PubMed ID: 11568920

DOI: 10.1002/1096-8628(20011001)103:2<138::aid-ajmg1529>3.0.co;2-8

PubMed ID: 11701593

Title: Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation.

PubMed ID: 11701593

DOI: 10.1093/brain/124.12.2383

PubMed ID: 11710891

Title: A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families.

PubMed ID: 11710891

DOI: 10.1001/jama.286.18.2257

PubMed ID: 11561050

Title: Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin 1 mutation (Phe237Ile).

PubMed ID: 11561050

DOI: 10.1136/jnnp.71.4.556

PubMed ID: 11524469

Title: Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations.

PubMed ID: 11524469

DOI: 10.1212/wnl.57.4.621

PubMed ID: 11920851

Title: Molecular evidence of presenilin 1 mutation in familial early onset dementia.

PubMed ID: 11920851

DOI: 10.1002/ajmg.10250

PubMed ID: 11796781

Title: A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances.

PubMed ID: 11796781

DOI: 10.1136/jnnp.72.2.266

PubMed ID: 12370477

Title: Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities.

PubMed ID: 12370477

DOI: 10.1212/wnl.59.7.1108

PubMed ID: 12048239

Title: Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Abeta 42 production.

PubMed ID: 12048239

DOI: 10.1073/pnas.112686799

PubMed ID: 12484344

Title: A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease.

PubMed ID: 12484344

DOI: 10.1007/s10048-002-0136-6

PubMed ID: 12493737

Title: Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy.

PubMed ID: 12493737

DOI: 10.1074/jbc.m211827200

PubMed ID: 12552037

Title: Early onset familial Alzheimer's disease: Mutation frequency in 31 families.

PubMed ID: 12552037

DOI: 10.1212/01.wnl.0000042088.22694.e3

PubMed ID: 15122701

Title: A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques.

PubMed ID: 15122701

DOI: 10.1002/ana.20083

PubMed ID: 15534188

Title: A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis.

PubMed ID: 15534188

DOI: 10.1001/archneur.61.11.1773

PubMed ID: 15534260

Title: A presenilin 1 R278I mutation presenting with language impairment.

PubMed ID: 15534260

DOI: 10.1212/01.wnl.0000143060.98164.1a

Sequence Information:

  • Length: 467
  • Mass: 52668
  • Checksum: 5E0F451EF82BCF20
  • Sequence:
    • MTELPAPLSY FQNAQMSEDN HLSNTVRSQN DNRERQEHND RRSLGHPEPL SNGRPQGNSR 
QVVEQDEEED EELTLKYGAK HVIMLFVPVT LCMVVVVATI KSVSFYTRKD GQLIYTPFTE 
DTETVGQRAL HSILNAAIMI SVIVVMTILL VVLYKYRCYK VIHAWLIISS LLLLFFFSFI 
YLGEVFKTYN VAVDYITVAL LIWNFGVVGM ISIHWKGPLR LQQAYLIMIS ALMALVFIKY 
LPEWTAWLIL AVISVYDLVA VLCPKGPLRM LVETAQERNE TLFPALIYSS TMVWLVNMAE 
GDPEAQRRVS KNSKYNAEST ERESQDTVAE NDDGGFSEEW EAQRDSHLGP HRSTPESRAA 
VQELSSSILA GEDPEERGVK LGLGDFIFYS VLVGKASATA SGDWNTTIAC FVAILIGLCL 
TLLLLAIFKK ALPALPISIT FGLVFYFATD YLVQPFMDQL AFHQFYI

Genular Protein ID: 967208878

Symbol: A0A0S2Z4D2_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0S2Z4D2

Database IDs:

ARBA 20 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 4 ExpressionAtlas 1 GO 16 Gene3D 1 InterPro 4 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 2 Pfam 1 RefSeq 4 RuleBase 1 SAM 1 SMART 1 SMR 1 VEuPathDB 1

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 26871637

Title: Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.

PubMed ID: 26871637

DOI: 10.1016/j.cell.2016.01.029

Sequence Information:

  • Length: 463
  • Mass: 52197
  • Checksum: 955325791A81470F
  • Sequence:
    • MTELPAPLSY FQNAQMSEDN HLSNTNDNRE RQEHNDRRSL GHPEPLSNGR PQGNSRQVVE 
QDEEEDEELT LKYGAKHVIM LFVPVTLCMV VVVATIKSVS FYTRKDGQLI YTPFTEDTET 
VGQRALHSIL NAAIMISVIV VMTILLVVLY KYRCYKVIHA WLIISSLLLL FFFSFIYLGE 
VFKTYNVAVD YITVALLIWN FGVVGMISIH WKGPLRLQQA YLIMISALMA LVFIKYLPEW 
TAWLILAVIS VYDLVAVLCP KGPLRMLVET AQERNETLFP ALIYSSTMVW LVNMAEGDPE 
AQRRVSKNSK YNAESTERES QDTVAENDDG GFSEEWEAQR DSHLGPHRST PESRAAVQEL 
SSSILAGEDP EERGVKLGLG DFIFYSVLVG KASATASGDW NTTIACFVAI LIGLCLTLLL 
LAIFKKALPA LPISITFGLV FYFATDYLVQ PFMDQLAFHQ FYI

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.