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 Alzheimer Disease 3 and Acne Inversa, Familial, 3. Among its related pathways are Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases and Notch signaling pathway (KEGG). 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 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). Requires the presence of the other members of the gamma-secretase complex for protease activity (PubMed:15274632, PubMed:25043039, PubMed:26280335). 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).
-
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
- Monarch Initiative
- Search for PSEN1 at DataMed
- Search for PSEN1 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSEN1 Gene
Genomics for PSEN1 Gene
GeneHancer (GH) Regulatory Elements for PSEN1 Gene
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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the PSEN1 gene promoter:
-
- PPAR-gamma2
- PPAR-gamma1
- AREB6
- Cart-1
- AML1a
Regulatory Element Products
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 Entrez Gene
- 14q24.2 by HGNC
- 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). Such minimal complex is sufficient for secretase activity (PubMed:15274632, PubMed:12679784, PubMed:12740439, PubMed:25043039, PubMed:26280335). 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). Associates with NOTCH1 (PubMed:10593990). 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).
Three dimensional structures from OCA and Proteopedia for PSEN1 Gene
Protein Expression for PSEN1 Gene
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:
-
- ENSP00000454156
- ENSP00000451915
- ENSP00000451347
- ENSP00000450845
- ENSP00000385948
- ENSP00000451588
- ENSP00000451880
- ENSP00000452242
- ENSP00000377712
- ENSP00000377719
- ENSP00000451429
- ENSP00000451498
- ENSP00000452128
- ENSP00000452477
- ENSP00000350342
- ENSP00000451662
- ENSP00000453466
- ENSP00000452267
- ENSP00000451674
- ENSP00000326366
- ENSP00000450652
- ENSP00000450551
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for PSEN1 (Presenilin-1)
-
Custom Antibody ServicesOriGene Antibodies for PSEN1
- Novus Biologicals Antibodies for PSEN1
-
Abcam antibodies for PSEN1
- Invitrogen Antibodies for PSEN1
- antibodies-online: Search results for 270 available Presenilin 1 Antibodies ranked by validation data
- Compare Top Presenilin 1 Antibodies
-
Recommended
- 196 WB Antibodies (anti-human)
- 36 IF (p) Antibodies (anti-human)
- 7 IHC (fro) Antibodies (anti-human)
- 6 IHC Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 2 IF Antibodies (anti-human)
- 1 IC Antibody (anti-human)
- 1 IP Antibody (anti-human)
- 107 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 2 IHC (p) Antibodies (anti-mouse)
- 1 IHC (fro) Antibody (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 96 WB Antibodies (anti-rat)
- 36 IF (p) Antibodies (anti-rat)
- 2 IHC (p) Antibodies (anti-rat)
- 1 IHC (fro) Antibody (anti-rat)
- 1 IHC Antibody (anti-rat)
- GeneTex PSEN1 Antibody for PSEN1
-
Custom Antibody ServicesProSci Antibodies for PSEN1
-
Santa Cruz Biotechnology (SCBT) Antibodies for PSEN1
Protein Products
-
OriGene Purified Proteins for PSEN1
- Search Origene for MassSpec and Protein Over-expression Lysates for PSEN1
- Origene Custom Protein Services for PSEN1
- Search GeneTex for Proteins for PSEN1
-
Abcam proteins for PSEN1
Assay Products
- R&D Systems ELISAs, Proteome Profiler Antibody Arrays, and other biochemical assays for PSEN1 (Presenilin-1)
No data available for DME Specific Peptides for PSEN1 Gene
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:
- ProtoNet:
Suggested Antigen Peptide Sequences for PSEN1 Gene
- GenScript: Design optimal peptide antigens:
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.
- 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). Requires the presence of the other members of the gamma-secretase complex for protease activity (PubMed:15274632, PubMed:25043039, PubMed:26280335). 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).
- 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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004175 | endopeptidase activity | IDA | 8755489 |
| GO:0004190 | aspartic-type endopeptidase activity | TAS,IEA | -- |
| 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
- cardiovascular system phenotype
- respiratory system phenotype
- limbs/digits/tail phenotype
- vision/eye phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- integument phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- muscle phenotype
- craniofacial phenotype
- reproductive system phenotype
- skeleton phenotype
- embryo phenotype
- normal phenotype
- renal/urinary system phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for PSEN1:
-
- Increased shRNA abundance (Z-score > 2)
- Reduced mammosphere formation
- Decreased ionizing radiation sensitivity
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Synthetic lethal with Ras
- Decreased centriole number
- Increased transferrin (TF) endocytosis
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Synthetic lethal with vaccinia virus (VACV) infection
Animal Models for PSEN1 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for PSEN1
- Cyagen custom Knockout/knockin (KOKI) mouse models for PSEN1
-
CRISPR Products
-
OriGene CRISPR knockouts for PSEN1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PSEN1
- genomics-online: gRNA clones - Search results for 123 available Presenilin 1 gene related products
- Overview of 123 available Presenilin 1 gene related products
- Applied Biological Materials CRISPR for PSEN1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PSEN1
- GenScript: Design CRISPR guide RNA sequences 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
- genomics-online: shRNA clones - Search results for 123 available Presenilin 1 gene related products
- Overview of 123 available Presenilin 1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for PSEN1
- VectorBuilder custom plasmid, inducible vectors for PSEN1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PSEN1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PSEN1
- genomics-online: cdna clones - Search results for 123 available Presenilin 1 gene related products
- Overview of 123 available Presenilin 1 gene related products
- orf clones - Search results for 123 available Presenilin 1 gene related products
- Overview of 123 available Presenilin 1 gene related products
- Applied Biological Materials Clones for PSEN1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for PSEN1 (Presenilin-1)
No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for PSEN1 Gene
Localization for PSEN1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for PSEN1 Gene
- Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Cytoplasmic granule. Cell membrane. 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 |
| extracellular | 2 |
| cytosol | 2 |
| endosome | 2 |
- Golgi apparatus (3)
- Cell Junctions (2)
- Nucleus (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | IEA | -- |
| GO:0000776 | kinetochore | IDA | 9298903 |
| GO:0005622 | intracellular | IEA | -- |
| GO:0005634 | nucleus | IMP | 10508860 |
| GO:0005640 | nuclear outer membrane | IDA | 9246482 |
Pathways & Interactions for PSEN1 Gene
Pathways by source for PSEN1 Gene
1 GeneTex pathway 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
3 R&D Systems pathways for PSEN1 Gene
1 Tocris pathway for PSEN1 Gene
5 Qiagen pathways for PSEN1 Gene
2 Cell Signaling Technology pathways 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 | 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 |
Drug Products
Transcripts for PSEN1 Gene
mRNA/cDNA for PSEN1 Gene
- (8) REFSEQ mRNAs :
- (14) Additional mRNA sequences :
- (342) Selected AceView cDNA sequences:
- (25) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000557356 571 bps (uc059daz.1)
- ENST00000556864 574 bps (uc059dba.1)
- ENST00000556533 550 bps (uc059dbb.1)
- ENST00000556951 552 bps (uc059dbc.1)
- ENST00000557293 576 bps (uc059dbd.1)
Unigene Clusters for PSEN1 Gene
- Presenilin 1:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for PSEN1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PSEN1
- genomics-online: gRNA clones - Search results for 123 available Presenilin 1 gene related products
- Overview of 123 available Presenilin 1 gene related products
- Applied Biological Materials CRISPR for PSEN1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PSEN1
- GenScript: Design CRISPR guide RNA sequences 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
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSEN1
- genomics-online: shRNA clones - Search results for 123 available Presenilin 1 gene related products
- Overview of 123 available Presenilin 1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for PSEN1
- VectorBuilder custom plasmid, inducible vectors for PSEN1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PSEN1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PSEN1
- genomics-online: cdna clones - Search results for 123 available Presenilin 1 gene related products
- Overview of 123 available Presenilin 1 gene related products
- orf clones - Search results for 123 available Presenilin 1 gene related products
- Overview of 123 available Presenilin 1 gene related products
- Applied Biological Materials Clones for PSEN1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for PSEN1 (Presenilin-1)
| 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: | - | - | - | ||||||||||||||||||||||||||||||||||
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| SP5: | - | - | |||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | ||||||||||||||||||||||||||||||||||
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| SP20: | - | ||||||||||||||||||||||||||||||||||||
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| SP22: | - | - |
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
NURSA nuclear receptor signaling pathways regulating expression of PSEN1 Gene:
PSEN1SOURCE 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(4.5)
- Skin(4.4)
- Intestine(4.3)
- Kidney(2.3)
- Adrenal gland(2.2)
- Liver(2)
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 and template standards for PSEN1
-
OriGene qPCR primer pairs 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 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | PSEN1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | PSEN1 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Psen1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Psen1 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | PSEN1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | PSEN1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | PSEN1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | psen1 33 |
|
||
| LOC394924 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.1253 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | psen1 34 33 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | Psn 34 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | sel-12 34 35 33 |
|
ManyToMany | |
| hop-1 34 |
|
ManyToMany | |||
| spe-4 34 |
|
ManyToMany | |||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | PS1 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os03g0603700 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.1400 34 |
|
OneToMany | |
| Cin.7776 33 |
|
||||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.7776 33 |
|
- Species where no ortholog for PSEN1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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
| SNP ID | Clin | Chr 14 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1007438928 | uncertain-significance, Dilated Cardiomyopathy, Dominant, Early-Onset Familial Alzheimer Disease | 73,223,137(+) | G/C | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs10143618 | likely-benign, Dilated Cardiomyopathy, Dominant, Early-Onset Familial Alzheimer Disease | 73,220,979(+) | T/C | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs1027382620 | uncertain-significance, Early-Onset Familial Alzheimer Disease, Dilated Cardiomyopathy, Dominant | 73,222,908(+) | A/G | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs1042383729 | uncertain-significance, Dilated Cardiomyopathy, Dominant, Early-Onset Familial Alzheimer Disease | 73,221,014(+) | A/G | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs1055238383 | uncertain-significance, Early-Onset Familial Alzheimer Disease, Dilated Cardiomyopathy, Dominant | 73,220,707(+) | G/A | 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_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
(57) MalaCards diseases for PSEN1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| alzheimer disease 3 |
|
|
| acne inversa, familial, 3 |
|
|
| frontotemporal dementia |
|
|
| cardiomyopathy, dilated, 1u |
|
|
| pick disease of brain |
|
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:11710891, ECO:0000269 PubMed:11920851, ECO:0000269 PubMed:12048239, ECO:0000269 PubMed:12058025, ECO:0000269 PubMed:12484344, ECO:0000269 PubMed:12493737, ECO:0000269 PubMed:16305624, ECO:0000269 PubMed:20460383, ECO:0000269 PubMed:22503161, ECO:0000269 PubMed:26145164, ECO:0000269 PubMed:26280335, ECO:0000269 PubMed:26549787, 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: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.84}. 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}. 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.
Additional Disease Information for PSEN1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for PSEN1 Gene
Publications for PSEN1 Gene
- 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 22 44 58
- Presenilin-1 mutation E318G and familial Alzheimer's disease in the Italian population. (PMID: 16952411) Albani D … Forloni G (Neurobiology of aging 2007) 3 22 44 58
- Cadherins mediate both the association between PS1 and beta-catenin and the effects of PS1 on beta-catenin stability. (PMID: 16126725) Serban G … Robakis NK (The Journal of biological chemistry 2005) 3 4 22 58
- A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease. (PMID: 12484344) Bertoli Avella AM … Heutink P (Neurogenetics 2002) 3 4 22 58
- Identification of the presenilins in hematopoietic cells with localization of presenilin 1 to neutrophil and platelet granules. (PMID: 11987239) Mirinics ZK … Corey SJ (Blood cells, molecules & diseases 2002) 3 4 22 58
Products for PSEN1 Gene
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- VectorBuilder custom plasmid, inducible vectors for PSEN1
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
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- genomics-online: cdna clones - Search results for 123 available Presenilin 1 gene related products
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Sources for PSEN1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD