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PSEN1 Gene

protein-coding GIFtS: 73
GCID: GC14P073603

Presenilin 1

(Previous name: Alzheimer disease 3)
(Previous symbol: AD3)

See PSEN1-related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Presenilin 1¹ ²		S182²
AD3¹ ² ³ ⁵		presenilin-1²
PS-1² ³		EC 3.4.23.-³
PS1² ³		PSNL1³
Alzheimer Disease 3¹		Protein S182³
FAD²		EC 3.4.23⁸

External Ids:	HGNC: 9508¹	Entrez Gene: 5663²	Ensembl: ENSG00000080815⁷	OMIM: 104311⁵	UniProtKB: P49768³

Export aliases for PSEN1 gene to outside databases

Previous GC identifers: GC14P071108 GC14P067398 GC14P071592 GC14P071593 GC14P072672 GC14P053768

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary 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 acne inversa, familial, 3, and frontotemporal dementia. GO annotations related to this gene include PDZ domain binding and calcium channel activity. An important paralog of this gene is PSEN2.

UniProtKB/Swiss-Prot: PSN1_HUMAN, P49768

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

summary for PSEN1 Gene:

Secretases are a group of enzymes involved in the proteolytic cleavage of amyloid precursor protein (APP).

There are three types of secretases, alpha-secretase, beta-secretase and gamma-secretase. gamma-Secretase is

a multi-subunit internal protease that cleaves within the transmembrane domain of its substrates. It is

itself an integral membrane protein and minimally consists of four proteins; presenilin, nicastrin, APH-1

and PEN-2. Presenilin is an aspartic protease and the catalytic subunit of the complex. There are two

important substrates of gamma-secretase; amyloid precursor protein (APP) and Notch. gamma-secretase can

cleave several sites within APP, and the most common products are Abeta40 and Abeta42. Abeta42 is

fibrillogenic and associated with disease states, notably Alzheimer's disease. gamma-Secretase catalyzes the

second step in Notch protein cleavage. gamma-Secretase cleaves within the transmembrane domain of Notch,

releasing the intracellular domain (Nbeta) into the cytoplasm. Nbeta moves to the nucleus where it can

regulate gene expression by activating the transcription factor CSL. This gamma-secretase-Notch signaling

pathway has a role in promoting angiogenesis in the embryo and wound healing in the adult.

Gene Wiki entry for PSEN1 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence at NCBI GenBank:

NC_000014.8 NT_026437.13 NC_018925.2

Regulatory elements:

Regulatory transcription factor binding sites in the PSEN1 gene promoter:
AREB6 PPAR-gamma1 AML1a Cart-1 PPAR-gamma2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): PSEN1 promoter sequence

Search Chromatin IP Primers for PSEN1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PSEN1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q24.3 Ensembl cytogenetic band: 14q24.2 HGNC cytogenetic band: 14q24.3

PSEN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PSEN1 gene location

GeneLoc information about chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14P073603: view genomic region (about GC identifiers)

Start:	73,603,126 bp from pter	End:	73,690,399 bp from pter
Size:	87,274 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

UniProtKB/Swiss-Prot: PSN1_HUMAN, P49768 (See protein sequence)

Recommended Name: Presenilin-1

Size: 467 amino acids; 52668 Da

Subunit: 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)

1 PDB 3D structure from and Proteopedia for PSEN1:

2KR6 (3D)

Secondary accessions: B2R6D3 O95465 Q14762 Q15719 Q15720 Q96P33 Q9UIF0

Alternative splicing: 7 isoforms: P49768-1 P49768-2 P49768-3 P49768-4 P49768-5 P49768-6 P49768-7 (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for PSEN1: NX_P49768

Explore proteomics data for PSEN1 at MOPED

Post-translational modifications:

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-CTF12¹

After endoproteolysis, the C-terminal fragment (CTF) is phosphorylated on serine residues by PKA and/or PKC.

Phosphorylation on Ser-346 inhibits endoproteolysis¹

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

Selected DME Specific Peptides for PSEN1 (P49768) (see all 27)

IHWKGPL

VPVTLCM

LGPHRST

DYITVAL

See PSEN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_000012.1 NP_015557.2

ENSEMBL proteins:

ENSP00000451498 ENSP00000451588 ENSP00000452128 ENSP00000450551 ENSP00000451880

ENSP00000451674 ENSP00000452477 ENSP00000451662 ENSP00000377712 ENSP00000350342

ENSP00000326366 ENSP00000453466 ENSP00000450652 ENSP00000451915 ENSP00000454156

ENSP00000451347 ENSP00000377719 ENSP00000452267 ENSP00000452242 ENSP00000450845

ENSP00000451429 ENSP00000385948 ENSP00000261970 ENSP00000339523

Reactome Protein details: P49768

PSEN1 Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein for PSEN1 OriGene Protein Over-expression Lysate for PSEN1 OriGene MassSpec for PSEN1 OriGene Custom Protein Services for PSEN1
	GenScript Custom Purified and Recombinant Proteins Services for PSEN1
	Novus Biologicals PSEN1 Proteins Novus Biologicals PSEN1 Lysate
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for PSEN1
	Search eBioscience for Proteins for PSEN1
	Search GeneTex for Proteins for PSEN1
	antibodies-online proteins for PSEN1 (4 products)
	antibodies-online peptides for PSEN1

PSEN1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of PSEN1
	R&D Systems Antibodies for PSEN1 (Presenilin-1)
	Cell Signaling Technology (CST) Antibodies for PSEN1
	OriGene Antibodies for PSEN1 OriGene Custom Antibody Services for PSEN1
	Novus Biologicals PSEN1 Antibodies
	Abcam antibodies for PSEN1 (P49768, P49810)
	Cloud-Clone Corp. Antibodies for PSEN1
	ThermoFisher Antibody for PSEN1
	antibodies-online antibodies for PSEN1 (181 products)

PSEN1 Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for PSEN1
	R&D Systems ELISAs for PSEN1 (Presenilin-1) (see all)
	GenScript Custom Assay Services for PSEN1
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for PSEN1 Cloud-Clone Corp. CLIAs for PSEN1
	Search eBioscience for ELISAs for PSEN1
	antibodies-online kits for PSEN1 (34 products)

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
About This Section

3 InterPro protein domains:

IPR002031 Pept_A22A_PS1

IPR006639 Preselin/SPP

IPR001108 Peptidase_A22A

Graphical View of Domain Structure for InterPro Entry P49768

ProtoNet protein and cluster: P49768

2 Blocks protein domains:

IPB002031 Presenilin 1 signature

IPB006639 Presenilin signal peptide peptidase

UniProtKB/Swiss-Prot: PSN1_HUMAN, P49768

Domain: The PAL motif is required for normal active site conformation

Similarity: Belongs to the peptidase A22A family

Find genes that share domains with PSEN1 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: PSN1_HUMAN, P49768

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

Genatlas biochemistry entry for PSEN1:

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): EC 3.4.23² EC 3.4.23.-¹

Gene Ontology (GO): Selected molecular function terms (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004175	endopeptidase activity	IDA	8755489
GO:0004190	aspartic-type endopeptidase activity	IEA	--
GO:0005262	calcium channel activity	IMP	16959576
GO:0005515	protein binding	IPI	11076969
GO:0008013	beta-catenin binding	IPI	11104755

Find genes that share ontologies with PSEN1 About GenesLikeMe

Phenotypes:
1 GenomeRNAi human phenotype for PSEN1:

Synthetic lethal with Ras

Selected MGI mutant phenotypes (inferred from 19 alleles) (MGI details for Psen1) (see all 23):

behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary
embryogenesis	endocrine/exocrine gland	growth/size/body	hematopoietic system	homeostasis/metabolism
immune system	integument	limbs/digits/tail	mortality/aging	muscle

Find genes that share phenotypes with PSEN1           About GenesLikeMe

Animal Models:
     MGI mouse knock-outs for PSEN1: Psen1^tm2.1Shn Psen1^tm1Zhe Psen1^tm1Psgh Psen1^tm1Hko Psen1^tm1Pcw Psen1^tm1Bdes
                                                     Psen1^tm1Shn Psen1^tm1Shs

genOway: Develop your customized and physiologically relevant rodent model for PSEN1

miRNA Products:		miRTarBase miRNAs that target PSEN1: hsa-mir-562 (MIRT005025), hsa-mir-183-5p (MIRT025010), hsa-mir-155-5p (MIRT020666)

		Block miRNA regulation of human, mouse, rat PSEN1 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate PSEN1 (see all 68):
		hsa-miR-140-5p hsa-miR-576-3p hsa-miR-520e hsa-miR-193a-3p hsa-miR-520f hsa-miR-106a hsa-miR-128 hsa-miR-3138

		SwitchGear 3'UTR luciferase reporter plasmid: PSEN1 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for PSEN1
		Predesigned siRNA for gene silencing in human, mouse, rat PSEN1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for PSEN1

Clone Products:		OriGene clones in human, mouse for PSEN1 (see all 11) OriGene ORF clones in mouse, rat for PSEN1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): PSEN1 (NM_007318)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PSEN1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PSEN1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PSEN1
		Browse ESI BIO Cell Lines and PureStem Progenitors for PSEN1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PSEN1

Flow Cytometry
Products:

eBioscience FlowRNA Probe Sets ( VA1-12380) for PSEN1

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Subcellular locations from UniProtKB/Swiss-Prot

PSN1_HUMAN, P49768: Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane;

Multi-pass membrane protein. Cell surface. 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

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytoskeleton	5
endoplasmic reticulum	5
golgi apparatus	5
nucleus	5
plasma membrane	5
lysosome	3
mitochondrion	3
vacuole	3
extracellular	2
cytosol	1
endosome	1

About this image

Gene Ontology (GO): Selected cellular component terms (see all 37): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000139	Golgi membrane	IEA	--
GO:0000776	kinetochore	IDA	9298903
GO:0005622	intracellular	--	--
GO:0005634	nucleus	--	--
GO:0005640	nuclear outer membrane	IDA	9246482

Find genes that share ontologies with PSEN1 About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

SuperPaths for PSEN1 About (see all 19)

See pathways by source

Powered
by

SuperPath

Contained pathways About

Notch signaling pathway (KEGG)

	Notch signaling pathway	0.84			Delta-Notch Signaling Pathway	0.33
	Notch Signaling Pathway	0.84			Notch Signaling	0.30

Alzheimer's disease

Alzheimers Disease

0.44

Alzheimer's disease

0.44

Development NOTCH1-mediated pathway for NF-KB activity modulation

Development NOTCH1-mediated pathway for NF-KB activity modulation

0.55

Development Notch Signaling Pathway

0.55

Degradation of the extracellular matrix

Degradation of the extracellular matrix

0.43

Extracellular matrix organization

0.34

IL-2 Pathway

ErbB4 Pathway

0.59

Find genes that share SuperPaths with PSEN1 About GenesLikeMe

Pathways by source See SuperPaths
Show all pathways

2 R&D Systems Pathways for PSEN1

	A-beta Plaque Formation & APP Metabolism
	Notch Signaling Pathways

5 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PSEN1

	Notch Signaling
	Molecular Mechanisms of Cancer
	Alzheimers Disease Pathway
	Presenilin-Mediated Signaling
	ErbB4 Pathway

2 Cell Signaling Technology (CST) Pathways for PSEN1

	Wnt / Hedgehog / Notch
	Neuroscience

1 Tocris Bioscience Pathway for PSEN1

Notch Pathway

3 GeneGo (Thomson Reuters) Pathways for PSEN1

	Development NOTCH1-mediated pathway for NF-KB activity modulation
	Development Notch Signaling Pathway
	Development MAG-dependent inhibition of neurite outgrowth

Selected BioSystems Pathways for PSEN1 (see all 6)

	Notch Signaling Pathway
	Delta-Notch Signaling Pathway
	Alzheimers Disease
	Syndecan-3-mediated signaling events
	p75(NTR)-mediated signaling

1 Reactome Pathway for PSEN1

Degradation of the extracellular matrix

4 Kegg Pathways (Kegg details for PSEN1):

	Wnt signaling pathway
	Notch signaling pathway
	Neurotrophin signaling pathway
	Alzheimer's disease

Pathway & Disease-focused RT² Profiler PCR Arrays including PSEN1:

Stem Cell Signaling in human mouse rat

Autophagy in human mouse rat

Alzheimer's Disease in human mouse rat

Apoptosis 384HT in human mouse rat

Notch Signaling Pathway in human mouse rat

Interactions:

GeneGlobe Interaction Network for PSEN1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for PSEN1 (P49768^{1, 2, 3} ENSP00000326366⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 142)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
APBA1	Q02410¹^,²^,³, ENSP00000265381⁴	EBI-297277,EBI-368690 MINT-1889752 I2D: score=2 STRING: ENSP00000265381
PKP4	Q99569²^,³, ENSP00000374409⁴	MINT-14193 MINT-14192 MINT-14194 I2D: score=5 STRING: ENSP00000374409
APP	P05067¹^,³, ENSP00000284981⁴	EBI-297277,EBI-77613 I2D: score=6 STRING: ENSP00000284981
GSK3B	P49841²^,³, ENSP00000324806⁴	MINT-2837737 I2D: score=5 STRING: ENSP00000324806
BCL2L1	Q07817²^,³, ENSP00000302564⁴	MINT-16205 I2D: score=4 STRING: ENSP00000302564

About this table

Gene Ontology (GO): Selected biological process terms (see all 86): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000045	autophagic vacuole assembly	IEA	--
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	--
GO:0000186	activation of MAPKK activity	IEA	--
GO:0001568	blood vessel development	IEA	--
GO:0001708	cell fate specification	IEA	--

Find genes that share ontologies with PSEN1 About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Compounds for PSEN1 available from Tocris Bioscience About this table

Compound	Action	CAS #
MRK 560	gamma-secretase inhibitor; attenuates amyloid plaque deposition	[677772-84-8]
JLK 6	Inhibitor of gamma-secretase-mediated betaAPP processing	[62252-26-0]
L-685,458	Potent and selective gamma-secretase inhibitor	[292632-98-5]
Begacestat	gamma-secretase inhibitor; lowers Abeta40 and Abeta42 levels	[769169-27-9]
DAPT	gamma-secretase inhibitor	[208255-80-5]

1 HMDB Compound for PSEN1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

Selected Novoseek inferred chemical compound relationships for PSEN1 gene (see all 64) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
s-182	88	20	7550356 (2), 8627338 (2), 8773595 (1), 8741394 (1) (see all 7)
chapso	54.8	4	15766262 (3), 17663636 (1)
lactacystin	34.8	3	9562973 (1), 9886077 (1)
glycogen	33.2	19	11104755 (3), 17389597 (3), 16814287 (2), 17360711 (2) (see all 10)
dantrolene	32.5	2	10662826 (1), 9051814 (1)
thapsigargin	28.3	8	10620705 (1), 19276550 (1), 9151738 (1), 12738804 (1) (see all 6)
calcium	28.2	125	10037477 (5), 10662826 (4), 15009636 (4), 14505542 (4) (see all 46)
aspartate	26.6	25	18393802 (2), 10593990 (2), 8931704 (1), 10521267 (1) (see all 14)
ryanodine	24.1	5	10764737 (3), 12909083 (1), 17328689 (1)
vitamin b12	20.1	1	15607954 (1)

Find genes that share compounds with PSEN1 About GenesLikeMe

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
About This Section

REFSEQ mRNAs for PSEN1 gene (5 alternative transcripts):

NM_000021.3 NM_007318.2 NM_007319.1 XM_005267864.1 XM_005267866.1

Unigene Cluster for PSEN1:

Presenilin 1

Hs.3260 [show with all ESTs]

Unigene Representative Sequence: NM_000021

Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 27):

ENST00000557356 ENST00000556864 ENST00000556533 ENST00000556951 ENST00000557293

ENST00000553719 ENST00000553599 ENST00000556011 ENST00000394157(uc001xnq.4)

ENST00000357710 ENST00000324501(uc001xnv.3 uc001xnr.3 uc010ark.3 uc001xnu.3)

ENST00000560005 ENST00000555254 ENST00000553447 ENST00000554131 ENST00000559361

ENST00000557037 ENST00000394164

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Flow Cytometry
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eBioscience FlowRNA Probe Sets ( VA1-12380) for PSEN1

Additional mRNA sequence:

AF416717.1 AJ008005.1 AK094186.1 AK094256.1 AK122722.1 AK223173.1 AK303876.1 AK312531.1

BC002708.2 BC011729.2 L42110.1 L76517.1 U40379.1 Y12018.1

19 DOTS entries:

DT.114933 DT.97795880 DT.100793809 DT.100668038 DT.100793794 DT.95374834 DT.120773705 DT.95350660

DT.100793796 DT.91645558 DT.120773698 DT.92456459 DT.120773592 DT.120773601 DT.91802309 DT.92417160

DT.92456465 DT.95192007 DT.100808531

Selected AceView cDNA sequences (see all 342):

CR614220 AW069286 CA438580 AA972181 AW604271 CD171632 CB128490 BM989159

AI160618 AA503101 AI138436 BI753252 U40379 BX094233 AI471960 BQ440097

AA463468 CA310824 CB215952 CA428276 BF515834 BM825099 NM_000021 NM_007319

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for PSEN1 (see all 22) About this scheme

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:																																							-

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:															-				-

ECgene alternative splicing isoforms for PSEN1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PSEN1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: --

About this image

PSEN1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 10) fully expand


Ovary (Reproductive System) fully expand to see all 2 entries
Primary Oocyte Primary Follicle
Oviduct

Brain (Nervous System) fully expand to see all 2 entries
Cerebellum

Bone (Muscoskeletal System)
Bone Marrow

Gonad
Primary Oocyte Primary Follicle

Cartilage (Muscoskeletal System)
Intervertebral Disc Nucleus Pulposus Cells Nucleus Pulposus

PSEN1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

PSEN1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.3260

UniProtKB/Swiss-Prot: PSN1_HUMAN, P49768

Tissue specificity: Expressed in a wide range of tissues including various regions of the brain, liver, spleen and

lymph nodes

Pathway & Disease-focused RT² Profiler PCR Arrays including PSEN1:

Stem Cell Signaling in human mouse rat

Autophagy in human mouse rat

Alzheimer's Disease in human mouse rat

Apoptosis 384HT in human mouse rat

Notch Signaling Pathway in human mouse rat

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In Situ
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PSEN1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for PSEN1 gene from Selected species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Psen1^{1 , 5}	presenilin 1^{1, 5}	87.15(n)¹ 92.72(a)¹		12 (38.84 cM)⁵ 19164¹ NM_008943.2¹ NP_032969.1¹ 83688563⁵
chicken (Gallus gallus)	Aves	PSEN1¹	presenilin 1	77.47(n) 85.25(a)		373977 NM_204163.1 NP_989494.1
lizard (Anolis carolinensis)	Reptilia	PSEN1⁶	presenilin 1	79(a)	1 ↔ 1	1(38936864-38967567)
African clawed frog (Xenopus laevis)	Amphibia	Xl.1253²	Xenopus laevis mRNA for presenilin-alpha, complete more	79.88(n)		D84427.1
zebrafish (Danio rerio)	Actinopterygii	psen1¹	presenilin 1	70.82(n) 80.15(a)		30221 NM_131024.1 NP_571099.1
fruit fly (Drosophila melanogaster)	Insecta	Psn³	cytoskeleton organization and biogenesis	52(a)		3 77C3 --
worm (Caenorhabditis elegans)	Secernentea	sel-12^{1 , 3}	Expression: all stages³ sel-12¹	51(a)³ 56.46(n)¹ 54.97(a)¹		X(951181-953466)³ 180441¹ NM_075774.5¹ NP_508175.1¹
thale cress (Arabidopsis thaliana)	eudicotyledons	PS1¹	PS1	46.97(n) 39.84(a)		837391 NM_100743.3 NP_172346.1
rice (Oryza sativa)	Liliopsida	Os03g0603700¹	Os03g0603700	45.98(n) 37.67(a)		9272037 NM_001186600.1 NP_001173529.1

ENSEMBL Gene Tree for PSEN1 (if available)
TreeFam Gene Tree for PSEN1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
About This Section

Paralogs for PSEN1 gene

PSEN2²

3 SIMAP similar genes for PSEN1 using alignment to 16 protein entries: PSN1_HUMAN (see all proteins):

ADCY7 PSEN2 TTC7A

Find genes that share paralogs with PSEN1 About GenesLikeMe

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

SNP ID	Valid	Clinical significance	Chr 14 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs661^1,2,,4	C	Alzheimer disease 3 (AD3)⁴ pathogenic¹	54675053(+)	`AGCCTA/GTTTCG`	4	Y C	mis¹ ese³		0	--	--	--	--
VAR_025605⁴		Alzheimer disease 3 (AD3)⁴	--	see VAR_025605	2	A E	mis⁴		0	--	--	--	--
VAR_006428⁴		Alzheimer disease 3 (AD3)⁴	--	see VAR_006428	2	H R	mis⁴		0	--	--	--	--
VAR_010124⁴		Alzheimer disease 3 (AD3)⁴	--	see VAR_010124	2	W C	mis⁴		0	--	--	--	--
VAR_016220⁴		Alzheimer disease 3 (AD3)⁴	--	see VAR_016220	2	L V	mis⁴		0	--	--	--	--
VAR_006425⁴		Alzheimer disease 3 (AD3)⁴	--	see VAR_006425	2	M I	mis⁴		0	--	--	--	--
VAR_006459⁴		Alzheimer disease 3 (AD3)⁴	--	see VAR_006459	2	A P	mis⁴		0	--	--	--	--
VAR_010121⁴		Alzheimer disease 3 (AD3)⁴	--	see VAR_010121	2	N D	mis⁴		0	--	--	--	--
VAR_006449⁴		Alzheimer disease 3 (AD3)⁴	--	see VAR_006449	2	R T	mis⁴		0	--	--	--	--
VAR_006418⁴		Alzheimer disease 3 (AD3)⁴	--	see VAR_006418	2	E D	mis⁴		0	--	--	--	--

HapMap Linkage Disequilibrium report for PSEN1 (73603126 - 73690399 bp)

Structural Variations
Database of Genomic Variants (DGV) 2 variations for PSEN1: About this table

Variant ID	Type	Subtype	PubMed ID
nsv507760	CNV	Insertion	20534489
nsv902081	CNV	Gain	21882294

Human Gene Mutation Database (HGMD): PSEN1
Locus Specific Mutation Databases (LSDB): PSEN1

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing PSEN1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
About This Section

OMIM gene information: 104311
OMIM disorders: 607822 600274 172700 613694 613737
UniProtKB/Swiss-Prot: PSN1_HUMAN, P49768

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. 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. 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. 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. Note=The disease is caused by mutations affecting the gene

represented in this entry

Selected diseases for PSEN1 (see all 27):
About MalaCards

acne inversa, familial, 3 frontotemporal dementia alzheimer disease, type 3, with spastic paraparesis and apraxia psen1-related dilated cardiomyopathy

alzheimer disease, type 3, with spastic paraparesis and unusual plaques cardiomyopathy, dilated, 1u alzheimer disease type 3 pick's disease

spastic paraparesis alzheimer's disease cardiomyopathy, dilated, 1ii mapt-related disorders

frontotemporal lobar degeneration with ubiquitin-positive inclusions dementia, familial, nonspecific semantic dementia acne

amyotrophic lateral sclerosis 14, with or without frontotemporal dementia familial idiopathic basal ganglia calcification dementia, frontotemporal, with or without parkinsonism alzheimer disease type 4

3 inferred disease relationships from the University of Copenhagen DISEASES database for PSEN1:

Alzheimer's disease Amyloidosis Brain disease

Find genes that share disorders with PSEN1 About GenesLikeMe

Selected Novoseek inferred disease relationships for PSEN1 gene (see all 58) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
alzheimers disease	94.3	1115	9576554 (8), 10581340 (6), 9923762 (5), 8596269 (4) (see all 99)
early onset alzheimer disease	92.4	40	9719376 (2), 12354302 (1), 12629906 (1), 17493013 (1) (see all 27)
senile plaques	85.6	54	11378241 (2), 9576554 (2), 17981591 (2), 9250173 (2) (see all 37)
neurofibrillary tangles	79.5	31	11786218 (3), 9576554 (2), 9185547 (2), 10840274 (2) (see all 19)
amyloid deposition	74.3	16	15212842 (3), 17553989 (2), 18694898 (1), 15262269 (1) (see all 9)
late onset alzheimer disease	74.3	8	8930979 (2), 10430506 (1), 8910899 (1), 9111746 (1)
dementia	72.6	66	9129727 (3), 17627113 (3), 17507029 (2), 16805926 (2) (see all 45)
frontotemporal dementia	65.7	22	11973477 (2), 11997713 (2), 10442553 (2), 18314228 (2) (see all 14)
dementia presenile	63.3	4	18583368 (1), 10720282 (1), 16930451 (1)
neurodegenerative diseases	62.7	9	11973477 (1), 16757805 (1), 15123735 (1), 10541872 (1) (see all 9)

GeneTests: PSEN1
GeneReviews: PSEN1
Genetic Association Database (GAD): PSEN1
Human Genome Epidemiology (HuGE) Navigator: PSEN1 (59 documents)

Export disorders for PSEN1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for PSEN1 gene, integrated from 10 sources (see all 1155):
(articles sorted by number of sources associating them with PSEN1)

Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype. (PubMed id 9172170)^{1, 2, 4} Kwok J.B.J.... Martins R.N. (NeuroReport 1997)
Cadherins mediate both the association between PS1 and beta-catenin and the effects of PS1 on beta-catenin stability. (PubMed id 16126725)^{1, 2, 9} Serban G.... Robakis N.K. (J. Biol. Chem. 2005)
Identification of the presenilins in hematopoietic cells with localization of presenilin 1 to neutrophil and platelet granules. (PubMed id 11987239)^{1, 2, 9} Mirinics Z.K.... Corey S.J. (Blood Cells Mol. Dis. 2002)
Variable expression of presenilin 1 is not a major determinant of risk for late-onset Alzheimer's disease. (PubMed id 11757955)^{1, 4, 9} Dermaut B....van Duijn C.M. (J. Neurol. 2001)
No association between presenilin 1 (PS1) intronic polymorphism and sporadic Alzheimer's disease in Koreans. (PubMed id 11129109)^{1, 4, 9} Kim K.W....Woo J.I. (J Neural Transm 2000)
A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures. (PubMed id 10025789)^{1, 2, 9} Ezquerra M.... Oliva R. (Neurology 1999)
Amyloidogenic function of the Alzheimer's disease-associated presenilin 1 in the absence of endoproteolysis. (PubMed id 10545183)^{1, 2, 9} Steiner H.... Haass C. (Biochemistry 1999)
Presenilin-1 mutation E318G and familial Alzheimer's disease in the Italian population. (PubMed id 16952411)^{1, 4, 9} Albani D....Forloni G. (Neurobiol. Aging 2007)
A mutation screening by DHPLC of PSEN1 and APP genes reveals no significant variation associated with the sporadic late-onset form of Alzheimer's disease. (PubMed id 17412506)^{1, 4, 9} Scacchi R....Corbo R.M. (Neurosci. Lett. 2007)
A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease. (PubMed id 12925374)^{1, 4, 9} Ezquerra M....Oliva R. (Arch. Neurol. 2003)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 5663	HGNC: 9508	AceView: PSEN1	Ensembl:ENSG00000080815	euGenes: HUgn5663
ECgene: PSEN1	Kegg: 5663	H-InvDB: PSEN1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for PSEN1	Pharmacogenomics, SNPs, Pathways
Alzheimer Research Forum	http://www.alzforum.org/res/com/mut/pre/default.asp
GeneReviews	http://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PSEN1[genesymbol]

Intellectual Property for PSEN1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for PSEN1 gene:
Search GeneIP for patents involving PSEN1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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PSEN1 Gene

Presenilin 1

Aliases
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for PSEN1 gene

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PSEN1 Gene

Presenilin 1

Aliasesfor PSEN1 gene

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PSEN1 Human Recombinant Protein Products:

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Genome Databases showing PSEN1 gene

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Aliases
for PSEN1 gene

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for PSEN1 gene

Genomic Views
for PSEN1 gene

Proteins
for PSEN1 gene

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for PSEN1 gene

Function
for PSEN1 gene

Localization
for PSEN1 gene

Pathways & Interactions
for PSEN1 gene

Drugs & Compounds
for PSEN1 gene

Transcripts
for PSEN1 gene

Expression
for PSEN1 gene

Orthologs
for PSEN1 gene

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for PSEN1 gene

Genomic Variants
for PSEN1 gene

Disorders / Diseases
for PSEN1 gene

Publications
for PSEN1 gene

Intellectual Property
for PSEN1 gene

Products
for PSEN1 gene