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, Type 3 and Acne Inversa, Familial, 3. Among its related pathways are Alzheimers Disease Pathway and ERK Signaling. 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
-
Probable 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 (beta-amyloid precursor protein). Requires the other members of the gamma-secretase complex to have a protease activity. May play a role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane. Stimulates cell-cell adhesion though its association with the E-cadherin/catenin complex. Under conditions of apoptosis or calcium influx, cleaves E-cadherin promoting the disassembly of the E-cadherin/catenin complex and increasing the pool of cytoplasmic beta-catenin, thus negatively regulating Wnt signaling. May also play a role in hematopoiesis.
-
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.
No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSEN1 Gene
Genomics for PSEN1 Gene
Regulatory Elements for PSEN1 Gene
Enhancers for PSEN1 Gene
| GeneHancer Identifier | Score | Enhancer Sources | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Other Gene Targets for Enhancer |
|---|
Enhancers around PSEN1 on UCSC Golden Path with GeneCards custom track
Promoters for PSEN1 Gene
| Ensembl Regulatory Elements (ENSRs) | TSS Distance (bp) | Size (bp) | Binding Sites for Transcription Factors within promoters |
|---|
ENSRs around PSEN1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the PSEN1 gene promoter:
Regulatory Element Products
Genomic Location for PSEN1 Gene
- Chromosome:
- 14
- Start:
- 73,136,418 bp from pter
- End:
- 73,223,691 bp from pter
- 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 Ensembl
- 14q24.3 by Entrez Gene
- 14q24.3 by HGNC
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. Component of the gamma-secretase complex, a complex composed of a presenilin homodimer (PSEN1 or PSEN2), nicastrin (NCSTN), APH1 (APH1A or APH1B) and PEN2. Such minimal complex is sufficient for secretase activity. 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. Associates with proteolytic processed C-terminal fragments C83 and C99 of the amyloid precursor protein (APP). Associates with NOTCH1. Associates with cadherin/catenin adhesion complexes through direct binding to CDH1 or CDH2. Interaction with CDH1 stabilizes the complex and stimulates cell-cell aggregation. Interaction with CDH2 is essential for trafficking of CDH2 from the endoplasmic reticulum to the plasma membrane. Interacts with CTNND2, CTNNB1, HERPUD1, FLNA, FLNB, MTCH1, PKP4 and PARL. Interacts through its N-terminus with isoform 3 of GFAP. Interacts with DOCK3 (By similarity). Interacts with isoform 1 and isoform 3 of UBQLN1.
Three dimensional structures from OCA and Proteopedia for PSEN1 Gene
Protein Expression for PSEN1 Gene
Selected DME Specific Peptides for PSEN1 Gene
Post-translational modifications for PSEN1 Gene
- After endoproteolysis, the C-terminal fragment (CTF) is phosphorylated on serine residues by PKA and/or PKC. Phosphorylation on Ser-346 inhibits endoproteolysis.
- 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.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for PSEN1 Gene
- ENSEMBL proteins:
-
- ENSP00000350342
- ENSP00000377712
- ENSP00000377719
- ENSP00000385948
- ENSP00000450551
- ENSP00000450652
- ENSP00000450845
- ENSP00000451347
- ENSP00000451429
- ENSP00000451498
- ENSP00000451588
- ENSP00000451662
- ENSP00000451674
- ENSP00000451880
- ENSP00000451915
- ENSP00000452128
- ENSP00000452242
- ENSP00000452267
- ENSP00000452477
- ENSP00000453466
- ENSP00000454156
- ENSP00000326366
- REFSEQ proteins:
Antibody Products
- EMD Millipore top PSEN1 Antibody
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for PSEN1
- R&D Systems Antibodies for PSEN1 (Presenilin-1)
- Cell Signaling Technology (CST) Antibodies for PSEN1 (PSEN1)
- Novus Biologicals Antibodies for PSEN1
- Abcam antibodies for Presenilin 1
-
Cloud-Clone Corp. Antibodies for PSEN1
- Invitrogen Antibodies for PSEN1
- antibodies-online Antibodies for PSEN1: See all 246
- 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
-
Cloud-Clone Corp. Proteins for PSEN1
- antibodies-online Proteins for PSEN1: See all 5
- Search antibodies-online for peptides
- Search GeneTex for Proteins for PSEN1
- Abcam proteins for Presenilin 1
Assay Products
- R&D Systems ELISAs, Proteome Profiler Antibody Arrays, and other biochemical assays for PSEN1 (Presenilin-1)
-
Cloud-Clone Corp Assay Kits for PSEN1
- antibodies-online Kits for PSEN1: See all 29
Domains & Families for PSEN1 Gene
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.
No data available for Gene Families for PSEN1 Gene
Function for PSEN1 Gene
Molecular function for PSEN1 Gene
- 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
- UniProtKB/Swiss-Prot Function:
- Probable 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 (beta-amyloid precursor protein). Requires the other members of the gamma-secretase complex to have a protease activity. May play a role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane. Stimulates cell-cell adhesion though its association with the E-cadherin/catenin complex. Under conditions of apoptosis or calcium influx, cleaves E-cadherin promoting the disassembly of the E-cadherin/catenin complex and increasing the pool of cytoplasmic beta-catenin, thus negatively regulating Wnt signaling. May also play a role in hematopoiesis.
Enzyme Numbers (IUBMB) for PSEN1 Gene
Phenotypes for PSEN1 Gene
- MGI mutant phenotypes for PSEN1:
-
inferred from 22 alleles
- cellular phenotype
- mortality/aging
- behavior/neurological phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- normal phenotype
- immune system phenotype
- cardiovascular system phenotype
- integument phenotype
- growth/size/body region phenotype
- hematopoietic system phenotype
- homeostasis/metabolism phenotype
- digestive/alimentary phenotype
- respiratory system phenotype
- embryo phenotype
- nervous system phenotype
- vision/eye phenotype
- muscle phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- renal/urinary system phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for PSEN1:
-
- Increased vaccinia virus (VACV) infection
- Synthetic lethal with Ras
- Decreased ionizing radiation sensitivity
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Increased transferrin (TF) endocytosis
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Synthetic lethal with vaccinia virus (VACV) infection
- Decreased centriole number
Animal Models for PSEN1 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for PSEN1
-
ViGene Biosciences lentiviral particle packaged cDNA for PSEN1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PSEN1 gene
- Search ViGene Biosciences for PSEN1
CRISPR Products
-
OriGene CRISPR knockouts for PSEN1
-
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
- Search ViGene Biosciences for PSEN1
Clone Products
- OriGene clones in human for PSEN1
- OriGene ORF clones in human,mouse,rat for PSEN1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- R&D Systems cDNA Clones for PSEN1 (Presenilin-1)
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for PSEN1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for PSEN1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PSEN1 gene
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-12380) for PSEN1
No data available for Gene Ontology (GO) - Molecular Function , 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. Cell surface. Cell membrane. Note=Bound to NOTCH1 also at the cell surface. Colocalizes with CDH1/2 at sites of cell-cell contact. Colocalizes with CTNNB1 in the endoplasmic reticulum and the proximity of the plasma membrane. Also present in azurophil granules of neutrophils. Colocalizes with UBQLN1 in the cell membrane and in cytoplasmic juxtanuclear structures called aggresomes (PubMed:21143716). {ECO:0000269 PubMed:21143716}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| endoplasmic reticulum | 5 |
| golgi apparatus | 5 |
| mitochondrion | 5 |
| nucleus | 5 |
| plasma membrane | 5 |
| lysosome | 3 |
| vacuole | 3 |
| chloroplast | 2 |
| cytosol | 2 |
| endosome | 2 |
| extracellular | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000776 | kinetochore | IDA | 9298903 |
| GO:0005622 | intracellular | IEA | -- |
| GO:0005640 | nuclear outer membrane | IDA | 9246482 |
| GO:0005765 | lysosomal membrane | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IDA | 9246482 |
Pathways & Interactions for PSEN1 Gene
More details on SuperPathways for PSEN1| Superpath | Contained pathways | ||
|---|---|---|---|
| 1 | Notch signaling pathway (KEGG) |
.30
|
|
| 2 | Alzheimer's disease | ||
| 3 | Degradation of the extracellular matrix | ||
| 4 | Development NOTCH1-mediated pathway for NF-KB activity modulation | ||
| 5 | Development HGF signaling pathway |
Pathways by source for PSEN1 Gene
1 GeneTex pathway for PSEN1 Gene
2 Cell Signaling Technology pathways for PSEN1 Gene
6 BioSystems pathways for PSEN1 Gene
2 Reactome pathways for PSEN1 Gene
4 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
Interacting Proteins for PSEN1 Gene
Selected Interacting proteins:
P49768-PSN1_HUMAN
ENSP00000326366
for PSEN1 Gene via
MINT
STRING
UniProtKB
I2D
SIGNOR curated interactions for PSEN1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000045 | autophagosome assembly | IEA | -- |
| GO:0000186 | activation of MAPKK activity | IEA | -- |
| GO:0001568 | blood vessel development | IEA | -- |
| GO:0001708 | cell fate specification | IEA | -- |
| GO:0001756 | somitogenesis | IEA | -- |
Drugs & Compounds for PSEN1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| BMS 299897 |
|
290315-45-6 |
|
|
||
| Compound W |
|
173550-33-9 |
|
|
||
| DAPT |
|
208255-80-5 |
|
|
||
| JLK 6 |
|
62252-26-0 |
|
|
||
| L-685,458 |
|
292632-98-5 |
|
|
(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 |
Transcripts for PSEN1 Gene
mRNA/cDNA for PSEN1 Gene
- (9) REFSEQ mRNAs :
- (14) Additional mRNA sequences :
- (342) Selected AceView cDNA sequences:
- (25) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for PSEN1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PSEN1
- GenScript: Design CRISPR guide RNA sequences for PSEN1
miRNA Products
- Search ViGene Biosciences for PSEN1
Clone Products
- OriGene clones in human for PSEN1
- OriGene ORF clones in human,mouse,rat for PSEN1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- R&D Systems cDNA Clones for PSEN1 (Presenilin-1)
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-12380) 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: | - | - |
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, PaxDb, MOPED, and MaxQB for PSEN1 Gene
SOURCE GeneReport for Unigene cluster for PSEN1 Gene Hs.3260
mRNA Expression by UniProt/SwissProt for PSEN1 Gene
P49768-PSN1_HUMAN
Tissue specificity:
Expressed in a wide range of tissues including various regions of the brain, liver, spleen and lymph nodes.
Primer Products
-
OriGene qPCR primer pairs for PSEN1
-
OriGene qPCR primer pairs and template standards for PSEN1
Orthologs for PSEN1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | PSEN1 35 |
|
||
| PSEN1 36 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | PSEN1 35 |
|
||
| PSEN1 36 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | Psen1 35 |
|
||
| Psen1 16 |
|
||||
| Psen1 36 |
|
OneToOne | |||
| chimpanzee (Pan troglodytes) |
Mammalia | PSEN1 35 |
|
||
| PSEN1 36 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | Psen1 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | PSEN1 36 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 36 |
|
OneToMany | |
| -- 36 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | PSEN1 35 |
|
||
| PSEN1 36 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | PSEN1 36 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC394924 35 |
|
||
| psen1 35 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.1253 35 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | psen1 35 |
|
||
| psen1 36 |
|
OneToOne | |||
| fruit fly (Drosophila melanogaster) |
Insecta | Psn 37 |
|
|
|
| Psn 36 |
|
OneToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | sel-12 37 |
|
|
|
| sel-12 35 |
|
||||
| hop-1 36 |
|
ManyToMany | |||
| sel-12 36 |
|
ManyToMany | |||
| spe-4 36 |
|
ManyToMany | |||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | PS1 35 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os03g0603700 35 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.7776 35 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.1400 36 |
|
OneToMany |
- Species with no ortholog for PSEN1:
-
- 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)
Paralogs for PSEN1 Gene
(3) SIMAP similar genes for PSEN1 Gene using alignment to 16 proteins:
Variants for PSEN1 Gene
| SNP ID | Clin | Chr 14 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| VAR_006413 | - | ||||
| VAR_006414 | Alzheimer disease 3 (AD3) | ||||
| VAR_006415 | Alzheimer disease 3 (AD3) | ||||
| VAR_006416 | Alzheimer disease 3 (AD3) | ||||
| VAR_006417 | Alzheimer disease 3 (AD3) |
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)
Relevant External Links for PSEN1 Gene
- Human Gene Mutation Database (HGMD)
- PSEN1
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSEN1 Gene
Disorders for PSEN1 Gene
(63) MalaCards diseases for PSEN1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| alzheimer disease, type 3 |
|
|
| acne inversa, familial, 3 |
|
|
| dementia, frontotemporal |
|
|
| cardiomyopathy, dilated, 1u |
|
|
| pick disease |
|
Search PSEN1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
PSN1_HUMAN- 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.
- 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 constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, 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:12484344, ECO:0000269 PubMed:12493737, ECO:0000269 PubMed:20460383, ECO:0000269 PubMed:22503161, ECO:0000269 PubMed:26145164, 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.78}. 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.
- 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.
Relevant External Links for PSEN1
No data available for Genatlas for PSEN1 Gene
Publications for PSEN1 Gene
- Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. (PMID: 11524469) Rogaeva E.A. … St George-Hyslop P. (Neurology 2001) 3 4 48 67
- Oxidative stress up-regulates presenilin 1 in lipid rafts in neuronal cells. (PMID: 19885829) Oda A. … Araki W. (J. Neurosci. Res. 2010) 3 23
- Transcriptional regulation of the presenilin-1 gene controls gamma-secretase activity. (PMID: 20036849) Lee S. … Das H.K. (Front Biosci (Elite Ed) 2010) 3 23
- Enhancement of activation of caspases by presenilin 1 gene mutations and its inhibition by secretase inhibitors. (PMID: 19276550) Miyoshi K. … Kira J. (J. Alzheimers Dis. 2009) 3 23
- Presenilin 1 modifies lipid raft composition of neuronal membranes. (PMID: 19292975) Eckert G.P. … MA1ller W.E. (Biochem. Biophys. Res. Commun. 2009) 3 23
Products for PSEN1 Gene
- R&D Systems Antibodies for PSEN1 (Presenilin-1)
- Browse R&D Systems for Human Recombinant Proteins
- R&D Systems ELISAs, Proteome Profiler Antibody Arrays, and other biochemical assays for PSEN1 (Presenilin-1)
- R&D Systems cDNA Clones for PSEN1 (Presenilin-1)
- Browse Primary Antibodies
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- Browse Cell Selection and Detection Kits
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- Browse Immunoprecipitation Assays
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- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for PSEN1
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- Origene siRNA, shRNA, mouse_rna, rat_shrna, 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
- OriGene clones in human for PSEN1
- OriGene ORF clones in human,mouse,rat for PSEN1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- GenScript Custom Purified and Recombinant Proteins Services for PSEN1
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- GenScript Custom Peptide Services for PSEN1
- Cell Signaling Technology (CST) Antibodies for PSEN1 (PSEN1)
- Search for Antibodies & Assays
- Novus Biologicals Antibodies for PSEN1
- Novus Biologicals proteins and lysates for PSEN1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for Presenilin 1
- Abcam proteins for Presenilin 1
- Search for Assays for PSEN1 at Abcam
- Find your target
- Search knockout validated antibodies
- Browse monoclonal antibodies
- Cloud-Clone Corp. Antibodies for PSEN1
- Cloud-Clone Corp. Proteins for PSEN1
- Cloud-Clone Corp Assay Kits for PSEN1
- Taconic Biosciences Mouse Models for PSEN1
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- antibodies-online Antibodies for PSEN1: See all 246
- antibodies-online Kits for PSEN1: See all 29
- antibodies-online Proteins for PSEN1: See all 5
- Search antibodies-online for peptides
- GeneTex PSEN1 antibody for PSEN1
- Search GeneTex for Proteins for PSEN1
- ViGene Biosciences adenoviral particle packaged cDNA for PSEN1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for PSEN1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for PSEN1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for PSEN1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for PSEN1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for PSEN1 gene
- Search ViGene Biosciences for PSEN1
- Search ViGene Biosciences for PSEN1
- Santa Cruz Biotechnology (SCBT) Antibodies for PSEN1
- Search Santa Cruz Biotechnology (SCBT) for PSEN1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for PSEN1
- Custom Antibody ServicesProSci Antibodies for PSEN1
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) I2D
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) UniGene
- (28) AceView
- (29) RNAdb
- (30) ASD
- (31) ECgene
- (32) GeneAnnot
- (33) SAGE
- (34) SOURCE
- (35) HomoloGene
- (36) PanEnsembl
- (37) euGenes
- (38) SGD
- (39) FlyBase
- (40) WormBase
- (41) Pseudogene
- (42) DGV
- (43) dbSNP
- (44) HapMap
- (45) GenAtlas
- (46) GeneTests
- (47) HGMD
- (48) GAD
- (49) LSDB
- (50) BGMUT
- (51) HuGE
- (52) eBioscience
- (53) Atlas
- (54) Cell Signaling Technology
- (55) GenBank
- (56) H-invDB
- (57) HORDE
- (58) HUGE
- (59) IMGT
- (60) Leiden
- (61) MILLIPORE
- (62) miRBase
- (63) DME
- (64) Nature
- (65) NCBI
- (66) OriGene
- (67) PubMed
- (68) R&D Systems
- (69) Salk
- (70) TGDB
- (71) Tufts
- (72) YEDA
- (73) CROW21
- (74) Tocris
- (75) Abcam
- (76) Novus
- (77) ProSpec
- (78) Sino Biological
- (79) GenScript
- (80) Qiagen
- (81) Cloud-Clone Corp.
- (82) Enzo Life Sciences
- (83) OCA
- (84) Proteopedia
- (85) MOPED
- (86) SPIRE
- (87) neXtProt
- (88) Reactome
- (89) GeneGo (Thomson Reuters)
- (90) fRNAdb
- (91) DISEASES
- (92) SIMAP
- (93) GenomeRNAi
- (94) LifeMap
- (95) miRTarBase
- (96) MalaCards
- (97) Invitrogen
- (98) BitterDB
- (99) Vector BioLabs
- (100) ESI-BIO
- (101) RefSeq
- (102) BioSystems
- (103) MaxQB
- (104) IUPHAR
- (105) BioGPS
- (106) Illumina
- (107) COMPARTMENTS
- (108) HOMER
- (109) PaxDb
- (110) ApexBio
- (111) Addgene
- (112) Advanced Cell Diagnostics
- (113) antibodies-online
- (114) CYP
- (115) NONCODE
- (116) SwitchGear Genomics
- (117) TreeFam
- (118) PathCards
- (119) GeneReviews
- (120) GeneTex
- (121) Taconic Biosciences
- (122) GTEx
- (123) ProteomicsDB
- (124) SCBT
- (125) DGIdb
- (126) ClinicalTrials
- (127) FDA Approved Drugs
- (128) RVIS
- (129) SIGNOR
- (130) diseasecard
- (131) NIH Rare Diseases
- (132) Orphanet
- (133) UMLS
- (134) GTR
- (135) Disease Ontology
- (136) Genetics Home Reference
- (137) MeSH
- (138) MedlinePlus
- (139) CDC
- (140) NINDS
- (141) NCBI Bookshelf
- (142) ClinVar
- (143) Gene Damage Index
- (144) ViGene Biosciences
- (145) HPO
- (146) UDN
- (147) VISTA
- (148) FANTOM5
- (149) ENCODE
- (150) ProSci
- (151) Horizon