Human Gene PSEN1 (ENST00000406768.1) Description and Page Index
  Description: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt E7ES96)
RefSeq Summary (NM_007318): 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].
Gencode Transcript: ENST00000406768.1
Gencode Gene: ENSG00000080815.19
Transcript (Including UTRs)
   Position: hg38 chr14:73,167,829-73,220,401 Size: 52,573 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg38 chr14:73,170,986-73,219,289 Size: 48,304 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesGeneReviewsMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr14:73,167,829-73,220,401)mRNA (may differ from genome)Protein (375 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
MGIPubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: SubName: Full=Presenilin-1;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  MalaCards Disease Associations
  MalaCards Gene Search: PSEN1
Diseases sorted by gene-association score: dementia, frontotemporal* (1352), alzheimer disease, type 3* (1318), acne inversa, familial, 3* (1019), cardiomyopathy, dilated, 1u* (829), pick disease* (728), dementia* (456), alzheimer disease-4* (283), kohlschutter-tonz syndrome* (283), early-onset, autosomal dominant alzheimer disease* (261), familial isolated dilated cardiomyopathy* (117), psen1-related dilated cardiomyopathy* (100), alzheimer disease (33), nominal aphasia (18), prosopagnosia (17), alexia (17), visual agnosia (16), associative agnosia (16), phonagnosia (15), topographical agnosia (15), cerebral amyloid angiopathy (15), early-onset familial alzheimer disease (14), speech and communication disorders (13), aphasia (13), alzheimer disease 18 (12), acne (12), alzheimer disease-2 (11), vascular dementia (11), hidradenitis suppurativa (10), apperceptive agnosia (10), hidradenitis (10), writing disorder (9), progressive non-fluent aphasia* (9), behavioral variant of frontotemporal dementia* (8), agraphia (8), spastic paraparesis (8), dysgraphia (7), normal pressure hydrocephalus (7), expressive language disorder (6), basal ganglia disease (6), anal canal squamous cell carcinoma (6), gait apraxia (6), echolalia (6), kluver-bucy syndrome (6), ideomotor apraxia (5), amyloidosis (5), amnestic disorder (4), transient global amnesia (4), internuclear ophthalmoplegia (4), frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (4), amyloidosis, familial visceral (3), cardiomyopathy (3), nervous system disease (2), central nervous system disease (2), disease of mental health (1), specific developmental disorder (1), dementia, lewy body (1), amyotrophic lateral sclerosis 1 (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.69 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 330.91 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -593.501822-0.326 Picture PostScript Text
3' UTR -319.101112-0.287 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002031 - Pept_A22A_PS1
IPR006639 - Peptidase_A22
IPR001108 - Peptidase_A22A

Pfam Domains:
PF01080 - Presenilin

ModBase Predicted Comparative 3D Structure on E7ES96
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004190 aspartic-type endopeptidase activity
GO:0008233 peptidase activity
GO:0016787 hydrolase activity

Biological Process:
GO:0006508 proteolysis
GO:0007219 Notch signaling pathway
GO:0016485 protein processing

Cellular Component:
GO:0000139 Golgi membrane
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0016021 integral component of membrane

-  Descriptions from all associated GenBank mRNAs
  LF384869 - JP 2014500723-A/192372: Polycomb-Associated Non-Coding RNAs.
MA620446 - JP 2018138019-A/192372: Polycomb-Associated Non-Coding RNAs.
AK303876 - Homo sapiens cDNA FLJ53003 complete cds, highly similar to Presenilin-1 (EC 3.4.23.-).
AK312531 - Homo sapiens cDNA, FLJ92900, Homo sapiens presenilin 1 (Alzheimer disease 3) (PSEN1), transcriptvariant I-467, mRNA.
BC011729 - Homo sapiens presenilin 1, mRNA (cDNA clone MGC:19554 IMAGE:4423098), complete cds.
L42110 - Homo sapiens (clone cc33) S182 mRNA, complete cds.
AJ008005 - Homo sapiens PSN1 gene, alternative transcript.
L76517 - Homo sapiens (clone cc44) senilin 1 (PS1; S182) mRNA, complete cds.
AK223173 - Homo sapiens mRNA for presenilin 1 isoform I-463 variant, clone: LNG14348.
CU680030 - Synthetic construct Homo sapiens gateway clone IMAGE:100019517 5' read PSEN1 mRNA.
AF416717 - Homo sapiens presenilin 1 (PSEN1) mRNA, complete cds.
AB384851 - Synthetic construct DNA, clone: pF1KB3765, Homo sapiens PSEN1 gene for presenilin-1, complete cds, without stop codon, in Flexi system.
KU178285 - Homo sapiens presenilin 1 isoform 1 (PSEN1) mRNA, partial cds.
KU178286 - Homo sapiens presenilin 1 isoform 2 (PSEN1) mRNA, partial cds.
KU178287 - Homo sapiens presenilin 1 isoform 3 (PSEN1) mRNA, complete cds, alternatively spliced.
HQ447260 - Synthetic construct Homo sapiens clone IMAGE:100070569; CCSB006970_02 presenilin 1 (Alzheimer disease 3) (PSEN1) gene, encodes complete protein.
KJ891910 - Synthetic construct Homo sapiens clone ccsbBroadEn_01304 PSEN1 gene, encodes complete protein.
U40379 - Human presenilin I-463 (AD3-3) mRNA, complete cds.
U40380 - Human presenilin I-374 (AD3-212) mRNA, complete cds.
AK122722 - Homo sapiens cDNA FLJ16221 fis, clone CTONG3002728, highly similar to PRESENILIN 1.
JD351246 - Sequence 332270 from Patent EP1572962.
JD410114 - Sequence 391138 from Patent EP1572962.
JD079613 - Sequence 60637 from Patent EP1572962.
LF329945 - JP 2014500723-A/137448: Polycomb-Associated Non-Coding RNAs.
MA565522 - JP 2018138019-A/137448: Polycomb-Associated Non-Coding RNAs.
LF329946 - JP 2014500723-A/137449: Polycomb-Associated Non-Coding RNAs.
MA565523 - JP 2018138019-A/137449: Polycomb-Associated Non-Coding RNAs.
LF329950 - JP 2014500723-A/137453: Polycomb-Associated Non-Coding RNAs.
MA565527 - JP 2018138019-A/137453: Polycomb-Associated Non-Coding RNAs.
JD071652 - Sequence 52676 from Patent EP1572962.
JD161203 - Sequence 142227 from Patent EP1572962.
JD547023 - Sequence 528047 from Patent EP1572962.
LF329951 - JP 2014500723-A/137454: Polycomb-Associated Non-Coding RNAs.
MA565528 - JP 2018138019-A/137454: Polycomb-Associated Non-Coding RNAs.
JD086452 - Sequence 67476 from Patent EP1572962.
JD190424 - Sequence 171448 from Patent EP1572962.
JD245299 - Sequence 226323 from Patent EP1572962.
JD540083 - Sequence 521107 from Patent EP1572962.
JD420260 - Sequence 401284 from Patent EP1572962.
JD316266 - Sequence 297290 from Patent EP1572962.
JD059174 - Sequence 40198 from Patent EP1572962.
JD358422 - Sequence 339446 from Patent EP1572962.
JD288008 - Sequence 269032 from Patent EP1572962.
JD486400 - Sequence 467424 from Patent EP1572962.
JD061143 - Sequence 42167 from Patent EP1572962.
JD383084 - Sequence 364108 from Patent EP1572962.
JD068221 - Sequence 49245 from Patent EP1572962.
JD063356 - Sequence 44380 from Patent EP1572962.
JD092294 - Sequence 73318 from Patent EP1572962.
JD449459 - Sequence 430483 from Patent EP1572962.
JD396687 - Sequence 377711 from Patent EP1572962.
JD280397 - Sequence 261421 from Patent EP1572962.
JD153196 - Sequence 134220 from Patent EP1572962.
JD161372 - Sequence 142396 from Patent EP1572962.
JD300192 - Sequence 281216 from Patent EP1572962.
JD424265 - Sequence 405289 from Patent EP1572962.
JD556572 - Sequence 537596 from Patent EP1572962.
JD317191 - Sequence 298215 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04310 - Wnt signaling pathway
hsa04330 - Notch signaling pathway
hsa04722 - Neurotrophin signaling pathway
hsa05010 - Alzheimer's disease

BioCarta from NCI Cancer Genome Anatomy Project
h_HivnefPathway - HIV-I Nef: negative effector of Fas and TNF
h_appPathway - Generation of amyloid b-peptide by PS1
h_ps1Pathway - Presenilin action in Notch and Wnt signaling
h_notchpathway - Proteolysis and Signaling Pathway of Notch
h_erbB4pathway - g-Secretase mediated ErbB4 Signaling Pathway

-  Other Names for This Gene
  Alternate Gene Symbols: AK122722, E7ES96, E7ES96_HUMAN, uc059dbr.1
UCSC ID: uc059dbr.1
RefSeq Accession: NM_007318
Protein: E7ES96

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene PSEN1:
alzheimer (Alzheimer Disease Overview)
dcm-ov (Dilated Cardiomyopathy Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.