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Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing... See more...
Aliases for PSEN1 Gene
Aliases for PSEN1 Gene
External Ids for PSEN1 Gene
- HGNC: 9508
- Entrez Gene: 5663
- Ensembl: ENSG00000080815
- OMIM: 104311
- UniProtKB: P49768
Previous HGNC Symbols for PSEN1 Gene
- AD3
Previous GeneCards Identifiers for PSEN1 Gene
- GC14P071108
- GC14P067398
- GC14P071592
- GC14P071593
- GC14P072672
- GC14P073603
- GC14P053768
Summaries for PSEN1 Gene
-
Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008]
GeneCards Summary for PSEN1 Gene
PSEN1 (Presenilin 1) is a Protein Coding gene. Diseases associated with PSEN1 include Pick Disease Of Brain and Alzheimer Disease 3. Among its related pathways are Neuroscience and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include peptidase activity and beta-catenin binding. An important paralog of this gene is PSEN2.
UniProtKB/Swiss-Prot Summary for PSEN1 Gene
-
Catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:15274632, PubMed:10545183, PubMed:10593990, PubMed:10206644, PubMed:10899933, PubMed:10811883, PubMed:12679784, PubMed:12740439, PubMed:25043039, PubMed:26280335, PubMed:30598546, PubMed:30630874, PubMed:28269784, PubMed:20460383). Requires the presence of the other members of the gamma-secretase complex for protease activity (PubMed:15274632, PubMed:25043039, PubMed:26280335, PubMed:30598546, PubMed:30630874). Plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (PubMed:9738936, PubMed:10593990, PubMed:10899933, PubMed:10811883). Stimulates cell-cell adhesion via its interaction with CDH1; this stabilizes the complexes between CDH1 (E-cadherin) and its interaction partners CTNNB1 (beta-catenin), CTNND1 and JUP (gamma-catenin) (PubMed:11953314). Under conditions of apoptosis or calcium influx, cleaves CDH1 (PubMed:11953314). This promotes the disassembly of the complexes between CDH1 and CTNND1, JUP and CTNNB1, increases the pool of cytoplasmic CTNNB1, and thereby negatively regulates Wnt signaling (PubMed:9738936, PubMed:11953314). Required for normal embryonic brain and skeleton development, and for normal angiogenesis (By similarity). Mediates the proteolytic cleavage of EphB2/CTF1 into EphB2/CTF2 (PubMed:17428795, PubMed:28269784). The holoprotein functions as a calcium-leak channel that allows the passive movement of calcium from endoplasmic reticulum to cytosol and is therefore involved in calcium homeostasis (PubMed:25394380, PubMed:16959576). Involved in the regulation of neurite outgrowth (PubMed:15004326, PubMed:20460383). Is a regulator of presynaptic facilitation, spike transmission and synaptic vesicles replenishment in a process that depends on gamma-secretase activity. It acts through the control of SYT7 presynaptic expression (By similarity).
-
gamma-secretase is a multi-subunit internal protease that cleaves within the transmembrane domain of its substrates. It is an integral membrane protein and minimally consists of four proteins; presenilin, nicastrin, APH-1 and PEN-2. gamma-secretase is involved in the processing of Notch.
Additional gene information for PSEN1 Gene
- HGNC(9508)
- Entrez Gene(5663)
- Ensembl(ENSG00000080815)
- OMIM(104311)
- UniProtKB(P49768)
- Open Targets Platform(ENSG00000080815)
- Monarch Initiative
- Search for PSEN1 at DataMed
- Search for PSEN1 at HumanCyc
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PSEN1 Gene
Genomics for PSEN1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PSEN1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around PSEN1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PSEN1
- Top Transcription factor binding sites by QIAGEN in the PSEN1 gene promoter:
-
- AML1a
- AREB6
- Cart-1
- PPAR-gamma1
- PPAR-gamma2
Genomic Locations for PSEN1 Gene
Genomic Locations for PSEN1 Gene
- chr14:73,136,418-73,223,691
- (GRCh38/hg38)
- Size:
- 87,274 bases
- Orientation:
- Plus strand
- chr14:73,603,126-73,690,399
- (GRCh37/hg19)
- Size:
- 87,274 bases
- Orientation:
- Plus strand
Genomic View for PSEN1 Gene
Genes around PSEN1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 14q24.2 by HGNC
- 14q24.2 by Entrez Gene
- 14q24.2 by Ensembl
PSEN1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PSEN1 Gene
Proteins for PSEN1 Gene
-
Protein details for PSEN1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P49768-PSN1_HUMAN
- Recommended name:
- Presenilin-1
- Protein Accession:
- P49768
- B2R6D3
- O95465
- Q14762
- Q15719
- Q15720
- Q96P33
- Q9UIF0
Protein attributes for PSEN1 Gene
- Size:
- 467 amino acids
- Molecular mass:
- 52668 Da
- Quaternary structure:
-
- Homodimer. The functional gamma-secretase complex is composed of at least four polypeptides: a presenilin homodimer (PSEN1 or PSEN2), nicastrin (NCSTN), APH1 (APH1A or APH1B) and PEN2 (PubMed:15274632, PubMed:12679784, PubMed:12740439, PubMed:25043039, PubMed:26280335, PubMed:25394380, PubMed:30598546, PubMed:30630874). Such minimal complex is sufficient for secretase activity (PubMed:15274632, PubMed:12679784, PubMed:12740439, PubMed:25043039, PubMed:26280335, PubMed:30598546, PubMed:30630874). Other components which are associated with the complex include SLC25A64, SLC5A7, PHB and PSEN1 isoform 3. Predominantly heterodimer of a N-terminal (NTF) and a C-terminal (CTF) endoproteolytical fragment (PubMed:15274632). Associates with proteolytic processed C-terminal fragments C83 and C99 of the amyloid precursor protein (APP) (via transmembrane domain) (PubMed:30630874). Associates with NOTCH1 (via transmembrane domain) (PubMed:10593990, PubMed:30598546). Associates with cadherin/catenin adhesion complexes through direct binding to CDH1 or CDH2 (PubMed:11953314, PubMed:14515347, PubMed:16126725). Interaction with CDH1 stabilizes the complex and stimulates cell-cell aggregation (PubMed:11953314). Interaction with CDH2 is essential for trafficking of CDH2 from the endoplasmic reticulum to the plasma membrane (PubMed:14515347). Interacts with CTNND2, CTNNB1, CTNND1, JUP, HERPUD1, FLNA, FLNB, MTCH1, PKP4 and PARL (PubMed:9738936, PubMed:9437013, PubMed:10551805, PubMed:10037471, PubMed:11953314, PubMed:11799129, PubMed:16126725). Interacts through its N-terminus with isoform 3 of GFAP (PubMed:12058025). Interacts with DOCK3 (By similarity). Interacts with isoform 1 and isoform 3 of UBQLN1 (PubMed:21143716).
- Miscellaneous:
-
- [Isoform 3]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Three dimensional structures from OCA and Proteopedia for PSEN1 Gene
Protein Expression for PSEN1 Gene
Selected DME Specific Peptides for PSEN1 Gene
- P49768:
-
- EELTLKYGA
- AILIGLCLTLLLLA
- ALMALVFIKYLPEW
- SGDWNTT
- IMISVIVVMT
- ISVYDLVAVL
- VPVTLCM
- FKKALPALP
- LGPHRST
- DDGGFSEEWEAQRDS
- EERGVKLGLGDF
- PFMDQLA
- PEPLSNGRPQG
- ETAQERN
- IHWKGPL
- KLGLGDFIFYS
- LGEVFKTYNVA
- EDTETVGQRALHS
- WNFGVVGM
- DYITVAL
- LQQAYLI
- VVVATIKSV
- PAPLSYFQNAQMSED
- LYKYRCYK
- FPALIYSS
- AVLCPKGPLR
- GQLIYTPFTE
Post-translational modifications for PSEN1 Gene
- Heterogeneous proteolytic processing generates N-terminal (NTF) and C-terminal (CTF) fragments of approximately 35 and 20 kDa, respectively. During apoptosis, the C-terminal fragment (CTF) is further cleaved by caspase-3 to produce the fragment, PS1-CTF12.
- After endoproteolysis, the C-terminal fragment (CTF) is phosphorylated on serine residues by PKA and/or PKC. Phosphorylation on Ser-346 inhibits endoproteolysis.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for PSEN1 Gene
- ENSEMBL proteins:
-
- ENSP00000451498
- ENSP00000451588
- ENSP00000452128
- ENSP00000450551
- ENSP00000451880
- ENSP00000451674
- ENSP00000452477
- ENSP00000451662
- ENSP00000377712
- ENSP00000350342
- ENSP00000326366
- ENSP00000453466
- ENSP00000450652
- ENSP00000451915
- ENSP00000454156
- ENSP00000451347
- ENSP00000377719
- ENSP00000452267
- ENSP00000452242
- ENSP00000450845
- ENSP00000451429
- ENSP00000385948
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences PSEN1 / Presenilin 1 Antibody (LS-B1390) and PSEN1 / Presenilin 1 Antibody (LS-B6832)
- G Biosciences Immunotag™ Presenilin 1 Antibody and Immunotag™ PSEN1 Antibody
- Creative Diagnostics Rabbit Anti-Human PSEN1 polyclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for PSEN1
- Novus Biologicals Antibodies for PSEN1
- Invitrogen Antibodies for PSEN1 (AFLGC-PSEN1)
- antibodies-online: Show 101 available Presenilin 1 Antibodies ranked by validation data
- Compare Top Presenilin 1 Antibodies
-
Recommended
- 230 WB Antibodies (anti-human)
- 36 IF (p) Antibodies (anti-human)
- 5 IHC Antibodies (anti-human)
- 3 IHC (fro) Antibodies (anti-human)
- 3 IHC (p) Antibodies (anti-human)
- 1 IC Antibody (anti-human)
- 1 IF Antibody (anti-human)
- 1 IP Antibody (anti-human)
- 156 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 IHC (fro) Antibody (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 122 WB Antibodies (anti-rat)
- 36 IF (p) Antibodies (anti-rat)
- 1 IHC (fro) Antibody (anti-rat)
- 1 IHC Antibody (anti-rat)
-
Boster Bio Antibodies for PSEN1
-
Custom Antibody ServicesProSci Antibodies for PSEN1
-
Santa Cruz Biotechnology (SCBT) Antibodies for PSEN1
- Sino Biological Antibodies for PSEN1
Protein Products
- RayBiotech Recombinant Human presenilin-1
- Creative Biomart Recombinant Human PSEN1
- Search Origene for MassSpec and Protein Over-expression Lysates for PSEN1
- Origene Custom Protein Services for PSEN1
-
Abcam proteins for PSEN1
Assay Products
- RayBiotech Human Presenilin 1 ELISA
- antibodies-online: Show 40 available Presenilin 1 Elisa Kits ranked by validation data
- Compare Top Presenilin 1 Elisa Kits
-
Quality Products:
- ABIN417919
- ABIN1565640
- ABIN858075
- ABIN5676206
- ABIN1572046
- ABIN1380852
- ABIN6384904
- ABIN1381456
- ABIN5658009
- ABIN4884271
- ABIN425409
- ABIN1565642
- ABIN5658010
- ABIN2538101
- ABIN6206836
- ABIN6206837
- ABIN1110865
- ABIN1565641
- ABIN432602
- ABIN1572047
- ABIN5521406
- ABIN5670533
- ABIN5658011
- ABIN2538102
- ABIN2950564
- ABIN6206838
-
Signalway ELISA kits for PSEN1
Domains & Families for PSEN1 Gene
Gene Families for PSEN1 Gene
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
- Transporters
Protein Domains for PSEN1 Gene
- InterPro:
- Blocks:
-
- Presenilin 1 signature
- Presenilin signal peptide peptidase
- ProtoNet:
Suggested Antigen Peptide Sequences for PSEN1 Gene
- GenScript: Design optimal peptide antigens:
-
- Protein S182 (PSN1_HUMAN)
- Presenilin 1 (Q6F4C0_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P49768UniProtKB/Swiss-Prot:
PSN1_HUMAN :- The PAL motif is required for normal active site conformation.
- Belongs to the peptidase A22A family.
- Domain:
-
- The PAL motif is required for normal active site conformation.
- Substrates, such as NOTCH1 and APP peptides, are bound between PSEN1 transmembrane domains and via the first lumenal loop and the cytoplasmic loop between the sixth and seventh transmembrane domains. Substrate binding causes a conformation change and formation of an intermolecular antiparallel beta-sheet between PSEN1 and its substrates.
- Family:
-
- Belongs to the peptidase A22A family.
Function for PSEN1 Gene
Molecular function for PSEN1 Gene
- UniProtKB/Swiss-Prot Function:
- Catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:15274632, PubMed:10545183, PubMed:10593990, PubMed:10206644, PubMed:10899933, PubMed:10811883, PubMed:12679784, PubMed:12740439, PubMed:25043039, PubMed:26280335, PubMed:30598546, PubMed:30630874, PubMed:28269784, PubMed:20460383). Requires the presence of the other members of the gamma-secretase complex for protease activity (PubMed:15274632, PubMed:25043039, PubMed:26280335, PubMed:30598546, PubMed:30630874). Plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (PubMed:9738936, PubMed:10593990, PubMed:10899933, PubMed:10811883). Stimulates cell-cell adhesion via its interaction with CDH1; this stabilizes the complexes between CDH1 (E-cadherin) and its interaction partners CTNNB1 (beta-catenin), CTNND1 and JUP (gamma-catenin) (PubMed:11953314). Under conditions of apoptosis or calcium influx, cleaves CDH1 (PubMed:11953314). This promotes the disassembly of the complexes between CDH1 and CTNND1, JUP and CTNNB1, increases the pool of cytoplasmic CTNNB1, and thereby negatively regulates Wnt signaling (PubMed:9738936, PubMed:11953314). Required for normal embryonic brain and skeleton development, and for normal angiogenesis (By similarity). Mediates the proteolytic cleavage of EphB2/CTF1 into EphB2/CTF2 (PubMed:17428795, PubMed:28269784). The holoprotein functions as a calcium-leak channel that allows the passive movement of calcium from endoplasmic reticulum to cytosol and is therefore involved in calcium homeostasis (PubMed:25394380, PubMed:16959576). Involved in the regulation of neurite outgrowth (PubMed:15004326, PubMed:20460383). Is a regulator of presynaptic facilitation, spike transmission and synaptic vesicles replenishment in a process that depends on gamma-secretase activity. It acts through the control of SYT7 presynaptic expression (By similarity).
- GENATLAS Biochemistry:
- presenilin 1,forming a multimeric complex that contains catenin beta (CTNNB1) and delta (CTNND1),widely expressed at low levels within the CNS,predominantly in the neocortex,dentate gyrus,hippocampus,cerebellar cortex,deep nuclei,also expressed in other organs,predominantly located in intracellular membranous organelles such as nuclear envelope,endoplasmic reticulum and Golgi apparatus with two alternatively variants,spliced in exon 3 (VRSQ) and in exon 8,but not involved in the protein transport from endoplasmic reticulum to the Golgi apparatus,membrane receptor for GDI1 and may be involved in the cleavage of APP and NOTCHs,interacting with Rab11 and may be involved in APP vesicular trafficking homologous to C elegans SPE-4,putative susceptibility factor for early onset EOAA independent of APOE4 and for late onset AD,both associated with the -48C->T polymorphism
Enzyme Numbers (IUBMB) for PSEN1 Gene
Phenotypes From GWAS Catalog for PSEN1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004175 | endopeptidase activity | IDA | 8755489 |
| GO:0004190 | aspartic-type endopeptidase activity | IEA,NAS | 24217950 |
| GO:0005262 | calcium channel activity | IMP | 16959576 |
| GO:0005515 | protein binding | IPI | 9223340 |
| GO:0008013 | beta-catenin binding | IPI | 9632714 |
Phenotypes for PSEN1 Gene
- MGI mutant phenotypes for PSEN1:
-
inferred from 22 alleles
- nervous system phenotype
- immune system phenotype
- respiratory system phenotype
- normal phenotype
- cardiovascular system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- renal/urinary system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- hematopoietic system phenotype
- integument phenotype
- embryo phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for PSEN1:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Synthetic lethal with Ras
- Reduced mammosphere formation
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Decreased shRNA abundance (Z-score < -2)
- Increased replication of vaccinia virus (VACV)
- Increased shRNA abundance (Z-score > 2)
- Increased viability with MLN4924 (a NAE inhibitor)
- Decreased ionizing radiation sensitivity
- Increased centriole number
- Decreased epidermal growth factor (EGF) endocytosis, increased transferrin (TF) endocytosis
Animal Models for PSEN1 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for PSEN1
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PSEN1 - Select products 50% OFF >
- * PSEN1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PSEN1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PSEN1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PSEN1
miRNA for PSEN1 Gene
- miRTarBase miRNAs that target PSEN1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PSEN1
- Browse OriGene Inhibitory RNA Products For PSEN1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSEN1
Clone Products
- Applied Biological Materials (abm): Clones for PSEN1 - Select products 50% OFF >
- * PSEN1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG203433
- MG207460
- MR203433
- MR203433L3
- MR203433L4
- MR207460
- MR207460L3
- MR207460L4
- RC216443
- RC216443L1
- RC216443L2
- RC216443L3
- RC216443L4
- RC225783
- RC225783L3
- RC225783L4
- RG216443
- RG225783
- RR210157
- RR210157L3
- RR210157L4
- MR203433L3V
- MR203433L4V
- MR207460L3V
- MR207460L4V
- RC216443L1V
- RC216443L2V
- RC216443L3V
- RC216443L4V
- RC225783L3V
- RC225783L4V
- RR210157L3V
- RR210157L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PSEN1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PSEN1
No data available for Transcription Factor Targets and HOMER Transcription for PSEN1 Gene
Localization for PSEN1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for PSEN1 Gene
- Endoplasmic reticulum. Endoplasmic reticulum membrane. Multi-pass membrane protein. Golgi apparatus membrane. Multi-pass membrane protein. Cytoplasmic granule. Cell membrane. Multi-pass membrane protein. Cell projection, growth cone. Early endosome. Early endosome membrane. Multi-pass membrane protein. Cell projection, neuron projection. Cell projection, axon. Cell junction, synapse. Note=Translocates with bound NOTCH1 from the endoplasmic reticulum and/or Golgi to the cell surface (PubMed:10593990). Colocalizes with CDH1/2 at sites of cell-cell contact. Colocalizes with CTNNB1 in the endoplasmic reticulum and the proximity of the plasma membrane (PubMed:9738936). Also present in azurophil granules of neutrophils (PubMed:11987239). Colocalizes with UBQLN1 in the cell membrane and in cytoplasmic juxtanuclear structures called aggresomes (PubMed:21143716). {ECO:0000269 PubMed:10593990, ECO:0000269 PubMed:11987239, ECO:0000269 PubMed:21143716, ECO:0000269 PubMed:9738936}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytoskeleton | 5 |
| mitochondrion | 5 |
| nucleus | 5 |
| endoplasmic reticulum | 5 |
| lysosome | 5 |
| golgi apparatus | 5 |
| endosome | 4 |
| extracellular | 3 |
| cytosol | 3 |
| peroxisome | 2 |
- Golgi apparatus (3)
- Cell Junctions (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | IEA | -- |
| GO:0000776 | kinetochore | IDA | 9298903 |
| GO:0005623 | cell | IEA | -- |
| GO:0005634 | nucleus | IMP | 10508860 |
| GO:0005640 | nuclear outer membrane | IDA | 9246482 |
Pathways & Interactions for PSEN1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Notch Signaling Pathway (WikiPathways) | ||
| 2 | Innate Immune System |
.61
|
|
| 3 | Degradation of the extracellular matrix | ||
| 4 | Development NOTCH1-mediated pathway for NF-KB activity modulation |
Development Notch Signaling Pathway
.55
|
Development NOTCH1-mediated pathway for NF-KB activity modulation
.55
|
| 5 | Neuroscience | ||
Pathways by source for PSEN1 Gene
7 BioSystems pathways for PSEN1 Gene
5 Reactome pathways for PSEN1 Gene
5 KEGG pathways for PSEN1 Gene
3 GeneGo (Thomson Reuters) pathways for PSEN1 Gene
- Development MAG-dependent inhibition of neurite outgrowth
- Development Notch Signaling Pathway
- Development NOTCH1-mediated pathway for NF-KB activity modulation
2 R&D Systems pathways for PSEN1 Gene
1 Tocris pathway for PSEN1 Gene
5 Qiagen pathways for PSEN1 Gene
- Alzheimers Disease Pathway
- ErbB4 Pathway
- Molecular Mechanisms of Cancer
- Notch Signaling
- Presenilin-Mediated Signaling
2 Cell Signaling Technology pathways for PSEN1 Gene
1 GeneTex pathway for PSEN1 Gene
Interacting Proteins for PSEN1 Gene
Selected Interacting proteins:
P49768-PSN1_HUMAN
ENSP00000326366
for PSEN1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for PSEN1
SIGNOR curated interactions for PSEN1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000045 | autophagosome assembly | IEA | -- |
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IMP | 10508860 |
| GO:0000186 | activation of MAPKK activity | IEA | -- |
| GO:0001568 | blood vessel development | IEA | -- |
| GO:0001708 | cell fate specification | IEA | -- |
Drugs & Compounds for PSEN1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Avagacestat | Investigational | Pharma | 0 | |||
| Begacestat | Investigational | Pharma | γ-secretase inhibitor | 0 | ||
| GSI-136 | Investigational | Pharma | 0 | |||
| Semagacestat | Investigational | Pharma | 0 | |||
| BMS 299897 | Pharma | γ--secretase inhibitor, potent and orally active, Potent gamma-secretase inhibitor | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Compound W |
|
173550-33-9 |
|
|
||
| DAPT |
|
208255-80-5 |
|
|
(5) Tocris Compounds for PSEN1 Gene
| Compound | Action | Cas Number |
|---|---|---|
| BMS 299897 | Potent gamma-secretase inhibitor | 290315-45-6 |
| Compound W | gamma-secretase inhibitor | 173550-33-9 |
| DAPT | gamma-secretase inhibitor | 208255-80-5 |
| JLK 6 | Inhibitor of gamma-secretase-mediated betaAPP processing | 62252-26-0 |
| L-685,458 | Potent and selective gamma-secretase inhibitor | 292632-98-5 |
(1) ApexBio Compounds for PSEN1 Gene
| Compound | Action | Cas Number |
|---|---|---|
| BMS 299897 | γ--secretase inhibitor, potent and orally active | 290315-45-6 |
Drug Products
- RayBiotech Recombinant Human presenilin-1
- Creative Biomart Recombinant Human PSEN1
- ApexBio compounds for PSEN1
Transcripts for PSEN1 Gene
mRNA/cDNA for PSEN1 Gene
- 3 REFSEQ mRNAs :
- 21 NCBI additional mRNA sequence :
- 25 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000324501 6018 nts (view in UCSC)
- ENST00000357710 2776 nts (view in UCSC)
- ENST00000394157 1249 nts (view in UCSC)
- ENST00000394164 3046 nts (view in UCSC)
- ENST00000406768 4062 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PSEN1 - Select products 50% OFF >
- * PSEN1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
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-
OriGene CRISPR knockouts for PSEN1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PSEN1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PSEN1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PSEN1
- Browse OriGene Inhibitory RNA Products For PSEN1
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Clone Products
- Applied Biological Materials (abm): Clones for PSEN1 - Select products 50% OFF >
- * PSEN1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG203433
- MG207460
- MR203433
- MR203433L3
- MR203433L4
- MR207460
- MR207460L3
- MR207460L4
- RC216443
- RC216443L1
- RC216443L2
- RC216443L3
- RC216443L4
- RC225783
- RC225783L3
- RC225783L4
- RG216443
- RG225783
- RR210157
- RR210157L3
- RR210157L4
- MR203433L3V
- MR203433L4V
- MR207460L3V
- MR207460L4V
- RC216443L1V
- RC216443L2V
- RC216443L3V
- RC216443L4V
- RC225783L3V
- RC225783L4V
- RR210157L3V
- RR210157L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PSEN1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PSEN1
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | · | 2d | · | 2e | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | · | 7c | · | 7d | · | 7e | · | 7f | ^ | 8 | ^ | 9a | · | 9b | · | 9c | · | 9d | · | 9e | ^ | 10a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP14: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP16: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP17: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP18: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP19: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP20: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP21: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP22: |
| ExUns: | 10b | · | 10c | · | 10d | · | 10e | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15 | ^ | 16a | · | 16b | ^ | 17a | · | 17b | ^ | 18a | · | 18b | · | 18c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||||||||||||||
| SP4: | - | - | |||||||||||||||||||||||||||||||||||
| SP5: | - | - | |||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | ||||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||||||||||||||||
| SP12: | |||||||||||||||||||||||||||||||||||||
| SP13: | |||||||||||||||||||||||||||||||||||||
| SP14: | |||||||||||||||||||||||||||||||||||||
| SP15: | |||||||||||||||||||||||||||||||||||||
| SP16: | |||||||||||||||||||||||||||||||||||||
| SP17: | |||||||||||||||||||||||||||||||||||||
| SP18: | |||||||||||||||||||||||||||||||||||||
| SP19: | |||||||||||||||||||||||||||||||||||||
| SP20: | - | ||||||||||||||||||||||||||||||||||||
| SP21: | |||||||||||||||||||||||||||||||||||||
| SP22: | - | - |
Relevant External Links for PSEN1 Gene
- GeneLoc Exon Structure for
- PSEN1
Expression for PSEN1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Ovary (Reproductive System)
- Primary Oocyte Primary Follicle
- Oviduct
- Brain (Nervous System)
-
Gonad
- Primary Oocyte Primary Follicle
-
Cartilage (Muscoskeletal System)
- Intervertebral Disc Nucleus Pulposus Cells Nucleus Pulposus
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
- Thyroid (Endocrine System)
- Pancreas (Endocrine System)
- Blood (Hematopoietic System)
-
Colon (Gastrointestinal Tract)
mRNA differential expression in normal tissues according to GTEx for PSEN1 Gene
This gene is overexpressed in Whole Blood (x4.2).
This gene is overexpressed in Peripheral blood mononuclear cells (11.6), Monocytes (10.5), and Pancreas (6.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PSEN1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PSEN1
SOURCE GeneReport for Unigene cluster for PSEN1 Gene:
Hs.3260mRNA Expression by UniProt/SwissProt for PSEN1 Gene:
P49768-PSN1_HUMAN
Tissue specificity:
Detected in azurophile granules in neutrophils and in platelet cytoplasmic granules (at protein level) (PubMed:11987239). Expressed in a wide range of tissues including various regions of the brain, liver, spleen and lymph nodes (PubMed:7596406, PubMed:8641442, PubMed:8574969).
Evidence on tissue expression from TISSUES for PSEN1 Gene
- Nervous system(5)
- Blood(4.7)
- Skin(4.7)
- Intestine(4.5)
- Kidney(3)
- Heart(2.9)
- Adrenal gland(2.9)
- Liver(2.9)
- Muscle(2.8)
- Spleen(2.7)
- Bone marrow(2.6)
- Lung(2.6)
- Lymph node(2.5)
- Thyroid gland(2.5)
- Eye(2.5)
- Stomach(2.4)
- Pancreas(2.4)
- Bone(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PSEN1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- face
- head
- jaw
- mandible
- maxilla
- mouth
- nose
- pharynx
- skull
- tongue
Thorax:
- esophagus
- heart
- heart valve
- lung
Abdomen:
- stomach
Pelvis:
- prostate
- urinary bladder
Limb:
- foot
- lower limb
- upper limb
General:
- blood
- blood vessel
- coagulation system
- hair
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for PSEN1
-
OriGene qPCR primer pairs and template standards for PSEN1
Gene Expression Assay Products
Orthologs for PSEN1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PSEN1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PSEN1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PSEN1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Psen1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Psen1 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | PSEN1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Chicken (Gallus gallus) |
Aves | PSEN1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PSEN1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | psen1 30 |
|
||
| LOC394924 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.1253 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | psen1 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | Psn 31 32 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | sel-12 30 31 32 |
|
ManyToMany | |
| hop-1 31 |
|
ManyToMany | |||
| spe-4 31 |
|
ManyToMany | |||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | PS1 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os03g0603700 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.1400 31 |
|
OneToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.7776 30 |
|
- Species where no ortholog for PSEN1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for PSEN1 Gene
- ENSEMBL:
- Gene Tree for PSEN1 (if available)
- TreeFam:
- Gene Tree for PSEN1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PSEN1: view image
Paralogs for PSEN1 Gene
(3) SIMAP similar genes for PSEN1 Gene using alignment to 16 proteins:
- PSN1_HUMAN
- E7ES96_HUMAN
- G3V2B1_HUMAN
- G3V2G7_HUMAN
- G3V3P0_HUMAN
- G3V3Z0_HUMAN
- G3V449_HUMAN
- G3V490_HUMAN
- G3V499_HUMAN
- G3V4M0_HUMAN
- G3V4P4_HUMAN
- G3V519_HUMAN
- G3V5B1_HUMAN
- H0YM52_HUMAN
- H0YNU4_HUMAN
- Q6F4C0_HUMAN
Variants for PSEN1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PSEN1 Gene
| SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 29606 | Pathogenic: Acne inversa, familial, 3 | 73,192,817(+) | TC/T | FRAMESHIFT_VARIANT | |
| 638260 | Likely Pathogenic: Alzheimer disease, type 3; not provided | 73,219,155(+) | C/G | MISSENSE_VARIANT | |
| 643888 | Uncertain Significance: Frontotemporal dementia; Pick's disease; Alzheimer disease, type 3; Cardiomyopathy, dilated, 1u; Acne inversa, familial, 3 | 73,211,891(+) | G/A | MISSENSE_VARIANT | |
| 645304 | Uncertain Significance: Frontotemporal dementia; Pick's disease; Alzheimer disease, type 3; Acne inversa, familial, 3 | 73,206,424(+) | C/G | MISSENSE_VARIANT | |
| 648949 | Uncertain Significance: Frontotemporal dementia; Pick's disease; Alzheimer disease, type 3; Acne inversa, familial, 3 | 73,192,754(+) | G/A | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3551762 | CNV | deletion | 23714750 |
| nsv1035460 | CNV | gain | 25217958 |
| nsv1049819 | CNV | gain | 25217958 |
| nsv479045 | CNV | novel sequence insertion | 20440878 |
| nsv507760 | OTHER | sequence alteration | 20534489 |
Residual Variation Intolerance Score:
42.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.58;
30.57% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PSEN1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSEN1 Gene
Disorders for PSEN1 Gene
(59) MalaCards diseases for PSEN1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| pick disease of brain |
|
|
| alzheimer disease 3 |
|
|
| acne inversa, familial, 3 |
|
|
| frontotemporal dementia |
|
|
| cardiomyopathy, dilated, 1u |
|
|
Search PSEN1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
PSN1_HUMAN- Alzheimer disease 3 (AD3) [MIM:607822]: A familial early-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. {ECO:0000269 PubMed:10025789, ECO:0000269 PubMed:10090481, ECO:0000269 PubMed:10200054, ECO:0000269 PubMed:10208579, ECO:0000269 PubMed:10439444, ECO:0000269 PubMed:10441572, ECO:0000269 PubMed:10447269, ECO:0000269 PubMed:10533070, ECO:0000269 PubMed:10631141, ECO:0000269 PubMed:10644793, ECO:0000269 PubMed:11027672, ECO:0000269 PubMed:11524469, ECO:0000269 PubMed:11561050, ECO:0000269 PubMed:11568920, ECO:0000269 PubMed:11701593, ECO:0000269 PubMed:11710891, ECO:0000269 PubMed:11796781, ECO:0000269 PubMed:11920851, ECO:0000269 PubMed:12048239, ECO:0000269 PubMed:12058025, ECO:0000269 PubMed:12370477, ECO:0000269 PubMed:12484344, ECO:0000269 PubMed:12493737, ECO:0000269 PubMed:12552037, ECO:0000269 PubMed:15004326, ECO:0000269 PubMed:15122701, ECO:0000269 PubMed:15364419, ECO:0000269 PubMed:15534188, ECO:0000269 PubMed:15534260, ECO:0000269 PubMed:15851849, ECO:0000269 PubMed:16305624, ECO:0000269 PubMed:16344340, ECO:0000269 PubMed:16628450, ECO:0000269 PubMed:16752394, ECO:0000269 PubMed:16897084, ECO:0000269 PubMed:16959576, ECO:0000269 PubMed:17366635, ECO:0000269 PubMed:17428795, ECO:0000269 PubMed:17502474, ECO:0000269 PubMed:18430735, ECO:0000269 PubMed:19667325, ECO:0000269 PubMed:19797784, ECO:0000269 PubMed:20164095, ECO:0000269 PubMed:20460383, ECO:0000269 PubMed:21335660, ECO:0000269 PubMed:21501661, ECO:0000269 PubMed:22461631, ECO:0000269 PubMed:22503161, ECO:0000269 PubMed:22529981, ECO:0000269 PubMed:23123781, ECO:0000269 PubMed:23843529, ECO:0000269 PubMed:24121961, ECO:0000269 PubMed:24495933, ECO:0000269 PubMed:24582897, ECO:0000269 PubMed:25394380, ECO:0000269 PubMed:26145164, ECO:0000269 PubMed:26280335, ECO:0000269 PubMed:26549787, ECO:0000269 PubMed:27073747, ECO:0000269 PubMed:27930341, ECO:0000269 PubMed:29175279, ECO:0000269 PubMed:29404783, ECO:0000269 PubMed:29466804, ECO:0000269 PubMed:30180983, ECO:0000269 PubMed:30200536, ECO:0000269 PubMed:7550356, ECO:0000269 PubMed:7596406, ECO:0000269 PubMed:7651536, ECO:0000269 PubMed:8634711, ECO:0000269 PubMed:8634712, ECO:0000269 PubMed:8733303, ECO:0000269 PubMed:8837617, ECO:0000269 PubMed:9172170, ECO:0000269 PubMed:9225696, ECO:0000269 PubMed:9298817, ECO:0000269 PubMed:9384602, ECO:0000269 PubMed:9507958, ECO:0000269 PubMed:9521423, ECO:0000269 PubMed:9719376, ECO:0000269 PubMed:9831473, ECO:0000269 PubMed:9833068, ECO:0000269 Ref.92}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Frontotemporal dementia (FTD) [MIM:600274]: A form of dementia characterized by pathologic finding of frontotemporal lobar degeneration, presenile dementia with behavioral changes, deterioration of cognitive capacities and loss of memory. In some cases, parkinsonian symptoms are prominent. Neuropathological changes include frontotemporal atrophy often associated with atrophy of the basal ganglia, substantia nigra, amygdala. In most cases, protein tau deposits are found in glial cells and/or neurons. {ECO:0000269 PubMed:11094121}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Cardiomyopathy, dilated 1U (CMD1U) [MIM:613694]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:17186461, ECO:0000269 PubMed:27930341}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Acne inversa, familial, 3 (ACNINV3) [MIM:613737]: A chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. {ECO:0000269 PubMed:20929727}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Pick disease of the brain (PIDB) [MIM:172700]: A rare form of dementia pathologically defined by severe atrophy, neuronal loss and gliosis. It is characterized by the occurrence of tau-positive inclusions, swollen neurons (Pick cells) and argentophilic neuronal inclusions known as Pick bodies that disproportionally affect the frontal and temporal cortical regions. Clinical features include aphasia, apraxia, confusion, anomia, memory loss and personality deterioration. {ECO:0000269 PubMed:15122701}. Note=The gene represented in this entry may be involved in disease pathogenesis.
Additional Disease Information for PSEN1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for PSEN1 Gene
Publications for PSEN1 Gene
- Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. (PMID: 18667258) Guerreiro RJ … Clarimón J (Neurobiology of aging 2010) 3 23 41
- Assessment of Alzheimer's disease case-control associations using family-based methods. (PMID: 18830724) Schjeide BM … Bertram L (Neurogenetics 2009) 3 23 41
- High striatal amyloid beta-peptide deposition across different autosomal Alzheimer disease mutation types. (PMID: 20008660) Villemagne VL … Rowe CC (Archives of neurology 2009) 3 23 41
- Novel presenilin 1 variant (P117A) causing Alzheimer's disease in the fourth decade of life. (PMID: 18479822) Kauwe JS … Henao-Martinez AF (Neuroscience letters 2008) 3 23 41
- Increased prevalence of significant recurrent headache in preclinical familial Alzheimer's disease mutation carriers. (PMID: 18376127) Ringman JM … Baloh RW (Dementia and geriatric cognitive disorders 2008) 3 23 41
ExternalLinks
Products for PSEN1 Gene
- View all 10 R&D Systems PSEN1 (Presenilin-1) Products
- View all 6 R&D Systems PSEN1 (Presenilin-1) Primary Antibodies
- View all R&D Systems PSEN1 (Presenilin-1) ELISAs
- View all 2 R&D Systems PSEN1 (Presenilin-1) Proteome Profiler Antibody Arrays
- View all R&D Systems PSEN1 (Presenilin-1) cDNA Clones
- Learn more about R&D Systems custom PSEN1 antibody, protein, and immunoassay development services
- Custom Antibody ServicesOriGene Antibodies for PSEN1
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for PSEN1
- Origene Custom Protein Services for PSEN1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PSEN1
- Browse OriGene Inhibitory RNA Products For PSEN1
- OriGene qPCR primer pairs for PSEN1
- OriGene qPCR primer pairs and template standards for PSEN1
- OriGene CRISPR knockouts for PSEN1
- MG203433
- MG207460
- MR203433
- MR203433L3
- MR203433L4
- MR207460
- MR207460L3
- MR207460L4
- RC216443
- RC216443L1
- RC216443L2
- RC216443L3
- RC216443L4
- RC225783
- RC225783L3
- RC225783L4
- RG216443
- RG225783
- RR210157
- RR210157L3
- RR210157L4
- MR203433L3V
- MR203433L4V
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- Taconic Biosciences Mouse Models for PSEN1
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- antibodies-online: Show 101 available Presenilin 1 Antibodies ranked by validation data
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- antibodies-online: Show 40 available Presenilin 1 Elisa Kits ranked by validation data
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- antibodies-online: Show 16 available Presenilin 1 Proteins ranked by validation data
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