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PSEN1 Gene

protein-coding GIFtS: 70

GC14P053768

presenilin 1
(Previous name: Alzheimer disease 3 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: AD3)

		Products

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

Aliases & Descriptions
presenilin 1¹ ²		Alzheimer disease 3¹
PS1¹ ² ³		OTTHUMP00000180591²
AD3² ³ ⁵		presenilin-1²
FAD¹ ²		Protein S182³
S182¹ ²		PSNL1³
PS-1² ³		EC 3.4.23.-³

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

Export aliases for PSEN1 gene to outside databases

Previous GC identifers: GC14P071108 GC14P067398 GC14P071592 GC14P071593 GC14P072672 GC14P073603

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
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)

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.

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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PSEN1 gene promoter:
         C/EBPalpha   p300   PPAR-gamma2   PPAR-gamma1   p53   FOXO1a   FOXF2   POU2F1   FOXO4   ATF-2
         Other transcription factors

Search SABiosciences Chromatin IP Primers for PSEN1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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 gene densities for chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14P053768: view genomic region (about GC identifiers)

Start:	53,768,824 bp from pter
End:	53,855,913 bp from pter
Size:	87,090 bases
Orientation:	plus strand

1 alternative location:

Chr14+ 73,603,155-73,687,109

RefSeq DNA sequence:

NC_000014.8 NT_026437.12

(According to ¹UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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

PDB structures from and Proteopedia :

2KR6 (3D)

Secondary accessions: B2R6D3 O95465 Q14762 Q15719 Q15720 Q96P33 Q9UIF0

Alternative splicing: 6 isoforms: P49768-1 P49768-2 P49768-3 P49768-4 P49768-5 P49768-6

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 phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_000012.1 NP_015557.2

ENSEMBL proteins:

ENSP00000377712 ENSP00000377719 ENSP00000339523 ENSP00000385948 ENSP00000261970 ENSP00000350342

ENSP00000326366

Human Recombinant Proteins

	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich Proteins for PSEN1
	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
	GenScript Custom Purified and Recombinant Proteins Services for PSEN1
	Novus Biologicals Protein for PSEN1
	Novus Biologicals Lysate for PSEN1
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins

5/38 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 38):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000139	Golgi membrane	IEA	--
GO:0000776	kinetochore	IDA	9298903
GO:0005622	intracellular	IEA	--
GO:0005624	membrane fraction	TAS	8878479
GO:0005634	nucleus	ISS	--

About this table

PSEN1 for ontologies About GeneDecksing

Antibodies for PSEN1:

	Millipore Mono- and Polyclonal Antibodies for the study of PSEN1
	Sigma-Aldrich Antibody Arrays and Antibodies for PSEN1
	R&D Systems Antibodies for PSEN1 (Presenilin-1)
	Cell Signaling Technology (CST) Antibodies for PSEN1 (Presenilin-1)
	OriGene Antibodies (see all 4): PSEN1
	GenScript Superior Antibodies for PSEN1
	Novus Biologicals Antibodies for PSEN1
	Epitomics antibodies for PSEN1

Assays for PSEN1:

	Browse Kits and Assays available from Millipore
	Browse ELISAs at Sigma-Aldrich
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	R&D Systems ELISAs for PSEN1 (Presenilin-1)
	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 UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

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

Enzyme Number (IUBMB): EC 3.4.23.-

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA Panels and esiRNA and siRNA for PSEN1 Sigma-Aldrich shRNA Panels and shRNA for PSEN1
		OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): PSEN1 OriGene shRNA RFP (see all 3): PSEN1 OriGene basic RS shRNA (see all 3): PSEN1 OriGene siRNA (see all 3): PSEN1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PSEN1

miRNA:		Sigma-Aldrich microRNA Mimics for PSEN1 Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PSEN1
		2 SABiosciences Assays for microRNAs that regulate PSEN1:
		hsa-miR-1184 hsa-miR-636

Gene
Editing:

Browse CompoZr Knockout ZFN at Sigma-Aldrich

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
		Browse iPSC Reprogramming Factors at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: PSEN1 OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): PSEN1 OriGene untagged cDNA clones in CMV expression vector: PSEN1 OriGene 3'-UTR clone (see all 2): PSEN1 Browse MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for PSEN1
		Browse Sino Biological Human cDNA Clones

Cell
Lines:

GenScript Custom overexpressing Cell Line Services for PSEN1

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

5/7 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 7):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004175	endopeptidase activity	ISS	--
GO:0005262	calcium channel activity	IMP	16959576
GO:0005515	protein binding	IPI	9223340
GO:0008013	beta-catenin binding	IPI	11104755
GO:0008233	peptidase activity	IEA	--

About this table

PSEN1 for ontologies About GeneDecksing

Animal Models: 15/25 MGI mutant phenotypes (inferred from 16 alleles) (MGI details for Psen1) (see all 25):

behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary
embryogenesis	endocrine/exocrine gland	growth/size	hearing/vestibular/ear	hematopoietic system
homeostasis/metabolism	immune system	lethality-postnatal	lethality-prenatal/perinatal	life span-post-weaning/aging

PSEN1 for phenotypes About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section

PSEN1 for pathways About GeneDecksing

2 Millipore Pathways for PSEN1

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

5/6 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for PSEN1 (see all 6)

	Lysine Degradation
	Notch Signaling
	Molecular Mechanisms of Cancer
	Amyloid Processing
	Neuregulin Signaling

1 Cell Signaling Technology (CST) Pathway for PSEN1

Wnt/b-Catenin Signaling

4 Kegg Pathways (Kegg details for PSEN1):

	hsa04310 Wnt signaling pathway
	hsa04330 Notch signaling pathway
	hsa04722 Neurotrophin signaling pathway
	hsa05010 Alzheimer's disease

SABiosciences Pathway-Focused PCR Arrays including PSEN1 (see all 4): PAHS-047A PAHS-057A

Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for PSEN1

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

5/59 Interacting proteins for PSEN1 (ENSP00000326366³ P49768^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 59)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
APP	P05067¹	STRING: ENSP00000284981 EBI-297277,EBI-77613
CTNNB1	P35222¹	STRING: ENSP00000344456 EBI-297277,EBI-491549
PKP4	Q99569²	STRING: ENSP00000374406 MINT-14193 MINT-14192 MINT-14194
FLNA	P21333²	STRING: ENSP00000358879 MINT-17725 MINT-17726
APBA1	Q02410²	STRING: ENSP00000265381 MINT-1889752

About this table

5/80 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 80):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000045	autophagic vacuole 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	--

About this table

PSEN1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

PSEN1 for compounds About GeneDecksing

Sigma-Aldrich Small Molecules for PSEN1:

Small Molecule - Inhibitor

Browse drugs & compounds from Enzo Life Sciences

Compounds for PSEN1 available from Tocris Bioscience

Compound	Action	CAS number
JLK 6	Inhibitor of gamma-secretase-mediated betaAPP processing	[62252-26-0]
Compound W	gamma-secretase inhibitor	[173550-33-9]
DAPT	gamma-secretase inhibitor	[208255-80-5]

About this table

10/64 Novoseek chemical compound relationships for PSEN1 gene (see all 64)

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)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA Panels and esiRNA and siRNA for PSEN1 Sigma-Aldrich shRNA Panels and shRNA for PSEN1
		OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): PSEN1 OriGene shRNA RFP (see all 3): PSEN1 OriGene basic RS shRNA (see all 3): PSEN1 OriGene siRNA (see all 3): PSEN1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PSEN1

miRNA:		Sigma-Aldrich microRNA Mimics for PSEN1 Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PSEN1
		2 SABiosciences Assays for microRNAs that regulate PSEN1:
		hsa-miR-1184 hsa-miR-636

Clones:		Browse FLAG tag genes at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: PSEN1 OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): PSEN1 OriGene untagged cDNA clones in CMV expression vector: PSEN1 OriGene 3'-UTR Clone (see all 2): PSEN1 Browse OriGene MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for PSEN1

Primers:		OriGene genome-wide validated SYBR primer pairs: PSEN1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for PSEN1: PPH05960A

REFSEQ mRNAs for PSEN1 gene (2 alternative transcripts):

NM_000021.3 NM_007318.2

Additional cDNA sequence:

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

BC002708.2 BC011729.2 CR595392.1 CR614220.1 L42110.1 L76517.1 U40379.1

19 DOTS entries:

DT.114933 DT.97795880 DT.100793809 DT.100668038 DT.100793794 DT.95374834 DT.120773705 DT.100793796

DT.91645558 DT.120773698 DT.92456459 DT.95350660 DT.120773592 DT.120773601 DT.91802309 DT.92417160

DT.92456465 DT.95192007 DT.100808531

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

AA425541 CA307069 AW604310 AI378850 BX094233 NM_000021 BI755293 BM476639

CF125052 AW604237 CR614220 AW604307 AA513102 AI367840 U40379 U40380

NM_007319 BQ440097 CB128490 AI434535 BM982576 AA453753 AW296832 BI753252

highest scoring ESTs for PSEN1:

L76517 AA299881 AA299882 AA403083 AA411814 AA513102 AA533888 AA534704 AA548804 AA770091

Unigene Cluster for PSEN1:

Presenilin 1

Hs.3260 [show with all ESTs]

Unigene Representative Sequence: NM_000021

GeneLoc Exon Structure

5/22 Alternative Splicing Database (ASD) splice patterns (SP) for PSEN1 (see all 22)

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:															-				-

About this scheme

ECgene alternative splicing isoforms for PSEN1
7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000394157(uc001xnq.3) ENST00000394164(uc010ark.2) ENST00000344094(uc001xnt.1 uc001xnu.2)

ENST00000406768 ENST00000261970 ENST00000357710(uc001xnv.2) ENST00000324501(uc001xnr.2)

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

PSEN1 expression in normal and diseased human tissues

¹ / ² / ³

14 probe-sets matching PSEN1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
641_at²^{, 3}	U95-A	1	1.00	1.00	0.91	1.32	L76517	1.00	1.00	1.00	1
54683_at²^{, 3}	U95-B	1	1.00	1.00	0.88	1.11	N49844	0.20	1.00	0.72	1
35658_at²^{, 3}	U95-A	1	1.00	1.00	0.73	0.86	U40380	0.80	1.00	0.91	1
642_s_at²^{, 3}	U95-A	1	0.94	1.00	0.99	0.97	L76528	0.20	1.00	0.72	1
77381_at²^{, 3}	U95-D	1	0.81	1.00	0.90	0.75	AL044267	0.20	1.00	0.72	1
207782_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_007319	0.40	1.00	0.76	1
203460_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_007318	0.40	1.00	0.76	1
238816_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AW297945	0.20	1.00	0.72	1
226577_at²^{, 3}	U133-B	1	0.82	1.00	--	--	N49844	0.20	1.00	0.72	1
207782_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
203460_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
238816_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
226577_at²	U133Plus2	1	0.82	1.00	--	--	--	--	--	--	--
1567443_x_at²	U133Plus2	1	0.27	1.00	--	--	--	--	--	--	--

About this table

PSEN1 for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

PSEN1 gene electronic northern expression

About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.3260

Expression variation in blood from EXPOLDB for PSEN1

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

Primers:		OriGene genome-wide validated SYBR primer pairs: PSEN1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for PSEN1: PPH05960A

SABiosciences Expression via Pathway-Focused PCR Arrays including PSEN1 (see all 4): PAHS-047A PAHS-057A

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for PSEN1 gene from 5/12 species (see all 12)

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	PSEN1¹	--	presenilin 1	91.92(n) 93.99(a)	403408 NM_001002943.1 NP_001002943.1
chimpanzee (Pan troglodytes)	PSEN1¹	--	presenilin 1	99.86(n) 100(a)	739740 XM_001149704.1 XP_001149704.1
cow (Bos taurus)	PSEN1¹	--	presenilin 1	90.65(n) 91.86(a)	282705 NM_174721.2 NP_777146.1
rat (Rattus norvegicus)	Psen1¹	--	presenilin 1	87.98(n) 92.92(a)	29192 NM_019163.2 NP_062036.2
mouse (Mus musculus)	Psen1^{1 , 5}	12 (38.84 cM)⁵	presenilin 1^{1, 5}	87.15(n)¹ 92.72(a)¹	19164¹ NM_008943.2¹ NP_032969.1¹ AF149111⁵ AK134232⁵ (see all 18)

About this table Species with no ortholog for PSEN1

ENSEMBL Gene Tree for PSEN1 (if available)

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for PSEN1 gene

PSEN2²

PSEN1 for paralogs About GeneDecksing

(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

SNP ID	Valid	Chr 14 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
rs661^1,2	C	73683933(+)	`AGCCTA/GTTTCG`	4	Y C	mis¹ ref¹ ese³		0	--	--	--	--
rs7523^1,2	C,F,	73686944(+)	`CTGTCG/ATGGTA`	2	--	ut3¹ ese³		20		MN NA NS EA WA	1556
rs14428^1,2	--	73689976(-)	`GCTGCC/TCAAGG`	2	--	ut3¹		0	--	--	--	--
rs165931^1,2	C,F,A,	73630270(-)	`CTTGAA/C/TTATTC`	2	--	int¹		18		EA NA MN WA	986
rs165932^1,2	C,F,O,A,	73664853(-)	`ATATCA/CTTCTC`	2	--	int¹		24		EA NA NS WA	1242
rs165933^1,2	C,F,O,H,	73665354(-)	`CACTAC/TCATAA`	2	--	int¹		13		NA MN NS EA WA	946
rs165934^1,2	C,F,O,H,	73672831(+)	`TGGTTA/CCTTTT`	2	--	int¹		25		MN EA NA NS WA	1506
rs165935^1,2	C,F,A,H,	73687144(-)	`TGTGTA/GGCAAA`	2	--	ut3¹		17		EA NA MN NS WA	864
rs177286^1,2	--	73650903(-)	`ccccgC/Gccggc`	2	--	int¹		0	--	--	--	--
rs177412^1,2	H	73687788(+)	`TTCTTA/TTAAGA`	2	--	ut3¹		7		MN NS EA NA	526

About this table

HapMap Linkage Disequilibrium images for PSEN1 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for PSEN1: --

QIAGEN SeqTarget long-range PCR primers for resequencing PSEN1

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PSEN1 for disorders About GeneDecksing

OMIM: 104311

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 [MIM:600274]

10/58 Novoseek disease relationships for PSEN1 gene (see all 58)

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)

About this table

GeneTests: PSEN1

Early-Onset Familial Alzheimer Disease

Locus Specific Mutation Databases (LSDB): PSEN1
Human Gene Mutation Database (HGMD): PSEN1
Genetic Association Database (GAD): PSEN1
Human Genome Epidemiology (HuGE) Navigator: PSEN1 (55 documents)

Export disorders and mutations for PSEN1 gene to outside databases

(Possibly Related Articles in Doctor's Guide)
About This Section

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

10/1024 PubMed articles for PSEN1 gene, integrated from 7 sources (see all 1024):
(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. (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, 7} 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, 7} 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, 7} 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, 7} 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, 7} 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, 7} 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, 7} 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, 7} 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, 7} Ma Q....Liu Z. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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)
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Entrez Gene: 5663	HGNC: 9508	AceView: PSEN1	Ensembl:ENSG00000080815	euGenes: HUgn5663
ECgene: PSEN1	Kegg: 5663	H-InvDB: PSEN1

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
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 XenneX, Inc.)

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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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Antibodies & Assays for PSEN1 (Presenilin-1)

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