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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PSEN1 Gene

protein-coding GIFtS: 72
GCID: GC14P073603

presenilin 1

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

Explore 77 diseases affiliated with
PSEN1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Presenilin 1¹ ²		Alzheimer Disease 3¹
AD3¹ ² ³ ⁵		Presenilin-1¹
PS1¹ ² ³		EC 3.4.23.-³
FAD¹ ²		PSNL1³
S182¹ ²		Protein S182³
PS-1² ³		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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PSEN1:

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)

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:

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

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000014.8 NC_018925.1 NT_026437.12

Regulatory elements:

SABiosciences 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 SABiosciences Chromatin IP Primers for PSEN1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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)

Subcellular location: 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

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

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

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P49768

4/27 DME Specific Peptides for PSEN1 (P49768) (see all 27)

IHWKGPL

VPVTLCM

LGPHRST

DYITVAL

PSEN1 Protein expression data from MOPED and PaxDb: About this image

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

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: PSEN1 OriGene Protein Over-expression Lysate: 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 ProSpec Recombinant Proteins
	Uscn Proteins for PSEN1

Gene Ontology (GO): 5/38 cellular component terms (GO ID links to tree view) (see all 38): 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:0005624	membrane fraction	--	--
GO:0005634	nucleus	--	--

PSEN1 for ontologies About GeneDecksing

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 (see all 4): PSEN1 OriGene Custom Antibody Services for PSEN1
	GenScript Superior Antibodies for PSEN1
	Novus Biologicals PSEN1 Antibodies
	Abcam antibodies for PSEN1
	Uscn Antibodies for PSEN1
	ThermoFisher Antibody for PSEN1

Assay Products for PSEN1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	R&D Systems ELISAs for PSEN1 (Presenilin-1) (see all)
	GenScript Custom Assay Services for PSEN1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for PSEN1

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

PSEN1 for domains About GeneDecksing

3 InterPro domains/families:

IPR002031 Pept_A22A_PS1

IPR006639 Peptidase_A22

IPR001108 Peptidase_A22A

Graphical View of Domain Structure for InterPro Entry P49768

ProtoNet protein and cluster: P49768

2 Blocks protein families:

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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

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

miRNA Products:		miRTarBase miRNAs that target PSEN1: hsa-mir-562 (MIRT005025)

		OriGene 3'-UTR Clone (see all 2): PSEN1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PSEN1
		8/68 QIAGEN miScript miRNA 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:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PSEN1 (see all 7) OriGene shRNA RFP: PSEN1 OriGene siRNA: PSEN1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PSEN1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for PSEN1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PSEN1 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PSEN1 (see all 2) 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
		Search LifeMap BioReagents cell lines for PSEN1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PSEN1

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (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	--
GO:0008013	beta-catenin binding	IPI	11104755

PSEN1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for PSEN1:

Synthetic lethal with Ras

Animal Models:
     Mouse knock-outs for PSEN1: Psen1^tm2.1Shn Psen1^tm1Zhe Psen1^tm1Shn Psen1^tm1Psgh Psen1^tm1Hko Psen1^tm1Pcw
                                               Psen1^tm1Bdes Psen1^tm1Shs
     15/23 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	hematopoietic system	homeostasis/metabolism
immune system	integument	limbs/digits/tail	mortality/aging	muscle

PSEN1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/18 super-pathways (see all 18) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Notch Signaling Pathway

	Notch Signaling Pathway	1.00			Delta-Notch Signaling Pathway	0.27
	Notch signaling pathway	0.82

Development_Notch Signaling Pathway

Development_Notch Signaling Pathway

1.00

Development Notch Signaling Pathway

0.97

Development NOTCH1-mediated pathway for NF-KB activity modulation

Development NOTCH1-mediated pathway for NF-KB activity modulation

1.00

Development_NOTCH1-mediated pathway for NF-KB activity modulation

0.88

Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.

Alzheimer's disease

0.43

Alzheimers Disease

0.00

Wnt / Hedgehog / Notch

Wnt / Hedgehog / Notch

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for PSEN1

	Development Notch Signaling Pathway
	Development NOTCH1-mediated pathway for NF-KB activity modulation

5 Downloadable PowerPoint Slides of QIAGEN 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

5/6 BioSystems Pathways for PSEN1 (see all 6)

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

4 Kegg Pathways (Kegg details for PSEN1):

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

PSEN1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for PSEN1

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

5/130 Interacting proteins for PSEN1 (P49768^{1, 2, 3} ENSP00000326366⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 130)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
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
CDH1	P12830²^,³, ENSP00000261769⁴	MINT-49819 I2D: score=4 STRING: ENSP00000261769

About this table

Gene Ontology (GO): 5/85 biological process terms (GO ID links to tree view) (see all 85): 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	--

PSEN1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

PSEN1 for compounds About GeneDecksing

EMD Millipore small molecules for PSEN1:
Small Molecule - inhibitor

Browse drugs & compounds from Enzo Life Sciences

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]
Compound W	gamma-secretase inhibitor	[173550-33-9]
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	--

10/64 Novoseek 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)

Search CenterWatch for drugs/clinical trials and news about PSEN1 / PSN1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PSEN1 gene (3 alternative transcripts):

NM_000021.3 NM_007318.2 NM_007319.1

Unigene Cluster for PSEN1:

Presenilin 1

Hs.3260 [show with all ESTs]

Unigene Representative Sequence: NM_000021

18/27 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

miRNA Products:		OriGene 3'-UTR Clone (see all 2): PSEN1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PSEN1
		8/68 QIAGEN miScript miRNA 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:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PSEN1 (see all 7) OriGene shRNA RFP: PSEN1 OriGene siRNA: PSEN1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PSEN1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PSEN1 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PSEN1 (see all 2) 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)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PSEN1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PSEN1

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Additional cDNA 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

24/342 AceView cDNA sequences (see all 342):

BQ695002 NM_007319 AA411814 AI027076 AI270259 BQ440097 AW376995 AI434535

CR614220 AA214080 AW296832 BQ009697 AA425541 BM930391 AW850640 AA453753

CF125052 AI160618 CA438580 CB128572 AW850719 CB128490 AL553513 BM982576

GeneLoc Exon Structure

5/22 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 GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, 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
CGAP TAG: --

About this image

PSEN1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Cartilage

Cervical Intervertebral Disc

Intervertebral Disc Nucleus Pulposus Cells

Cartilage

Lumbar Intervertebral Disc

Intervertebral Disc Nucleus Pulposus Cells

Cartilage

Sacral Intervertebral Disc

Intervertebral Disc Nucleus Pulposus Cells

Cartilage

Thoracic Intervertebral Disc

Intervertebral Disc Nucleus Pulposus Cells

Cartilage

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See PSEN1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PSEN1

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

SABiosciences Expression via Pathway-Focused 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
Assay Products:

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(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 9/28 species (see all 28) 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	--	80(a)	1 ↔ 1	1(38942134-38967567)
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	68.01(n) 74.5(a)		30221 NM_131024.1 NP_571099.1
fruit fly (Drosophila melanogaster)	Insecta	Psn^{1 , 3}	cytoskeleton organization and biogenesis³ Presenilin¹	52(a)³ 59.05(n)¹ 59.55(a)¹		3 77C3³ 40260¹ NM_001144516.2¹ NP_001137988.1¹
worm (Caenorhabditis elegans)	Secernentea	sel-12^{1 , 3}	Expression: all stages³ Protein SEL-12¹	51(a)³ 56.06(n)¹ 54.45(a)¹		X(951181-953466)³ 180441¹ NM_075774.4¹ NP_508175.1¹
thale cress (Arabidopsis thaliana)	eudicotyledons	PS1¹	Presenilin-1	46.43(n) 40.11(a)		837391 NM_100743.3 NP_172346.1
rice (Oryza sativa)	Liliopsida	Os01g0276400¹	hypothetical protein	46.48(n) 41.9(a)		4324260 NM_001049263.1 NP_001042728.2

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)
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

PSEN1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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
				--	--	--		--	--
rs63749824^1,2	C	pathogenic	73637653(+)	`TGGCGC/TCAAGC`	4	A V	mis¹		0	--	--	--	--
rs63750599^1,2	C	pathogenic	73637671(+)	`CATGCC/TCTTTG`	4	P L	mis¹		0	--	--	--	--
rs63750815^1,2	C	pathogenic	73637682(+)	`TCCCTG/TTGACT`	4	V L	mis¹		0	--	--	--	--
rs63751399^1,2	C	pathogenic	73637755(+)	`GCAGCA/C/TGTACG`	6	Q P L	mis¹		0	--	--	--	--
rs63751272^1,2	C	pathogenic	73640295(+)	`ACAGAA/C/TGATAC`	6	E D	mis¹		0	--	--	--	--
rs63751037^1,2	C	pathogenic	73640350(+)	`CCATCA/GTGATC`	4	M V	mis¹		0	--	--	--	--
rs63750306^1,2	C	pathogenic	73640371(+)	`TTGTCA/C/G/T TGACT`	8	M L V	mis¹		0	--	--	--	--
rs63749885^1,2	C	pathogenic	73653567(+)	`TCATCC/TATGCC`	4	H Y	mis¹		0	--	--	--	--
rs63750590^1,2	C	pathogenic	73653568(+)	`CATCCA/GTGCCT`	4	H R	mis¹		0	--	--	--	--
rs63750265^1,2	C	pathogenic	73653577(+)	`CTGGCA/C/G/T TATTA`	8	H P R L	mis¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for PSEN1 (73603126 - 73690399 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for PSEN1: --
Human Gene Mutation Database (HGMD): PSEN1

Locus Specific Mutation Databases (LSDB): PSEN1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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.)
About This Section

PSEN1 for disorders           About GeneDecksing

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

Defects in PSEN1 are a cause of Alzheimer disease type 3 (AD3) [MIM:607822]. AD3 is 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

Defects in PSEN1 are a cause of frontotemporal dementia (FTD) [MIM:600274]

Defects in PSEN1 are the cause of cardiomyopathy dilated type 1U (CMD1U) [MIM:613694]. It is a disorder

characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and

arrhythmia. Patients are at risk of premature death

Defects in PSEN1 are the cause of familial acne inversa type 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

20/77 diseases for PSEN1 (see all 77): About MalaCards

alzheimer's disease alzheimer disease, type 3, with spastic paraparesis and unusual plaques alzheimer disease, type 3, with spastic paraparesis and apraxia acne inversa, familial, 3

basal ganglia calcification familial idiopathic basal ganglia calcification alzheimer disease type 3 spastic paraparesis

cerebral amyloid angiopathy early-onset familial alzheimer disease age related macular degeneration inclusion body myositis

ventricular septal defect amyotrophic lateral sclerosis inclusion body myopathy spastic paraplegia

frontotemporal dementia hereditary cerebral hemorrhage with amyloidosis memory impairment spasticity

3 diseases from the University of Copenhagen DISEASES database for PSEN1:

Alzheimer's disease Amyloidosis Brain disease

10/58 Novoseek 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

Early-Onset Familial Alzheimer Disease

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 9 sources (see all 1109):
(articles sorted by number of sources associating them with PSEN1)

Utopia: connect your pdf to the dynamic
world of online information

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. (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. (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. (2002)
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. (2000)
A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures. (PubMed id 10025789)^{1, 2, 9} Ezquerra M.... Oliva R. (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. (1999)
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. (2003)
Alzheimer-associated presenilins 1 and 2: neuronal expression in brain and localization to intracellular membranes in mammalian cells. (PubMed id 8574969)^{1, 2, 9} Kovacs D.M.... Wasco W. (1996)
Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland. (PubMed id 14769392)^{1, 4, 9} Zekanowski C....Barcikowska M. (2003)
[Analysis of the interaction of the polymorphisms of presenilin-1 gene and ApoE gene in Alzheimerns disease] (PubMed id 11110974)^{1, 4, 9} Ma Q....Liu Z. (2000)

(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, and/or UniProtKB/TrEMBL,
Wikipedia and/or 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/sites/GeneTests/lab/gene/PSEN1

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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Cerebral Amyloid Angiopathy
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PSEN1 Gene

presenilin 1

Aliasesfor PSEN1 gene

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Aliases
for PSEN1 gene

Summaries
for PSEN1 gene

Genomic Views
for PSEN1 gene

Proteins
for PSEN1 gene

Protein Domains /
Families
for PSEN1 gene

Function
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

Paralogs
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