Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 201 (16 Oct 2019)
Sequence version 1 (01 Oct 1996)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Presenilin-1

Gene

Psen1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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 (amyloid-beta precursor protein). Requires the presence of the other members of the gamma-secretase complex for protease activity (By similarity). Plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (PubMed:10421573, PubMed:11517342). Stimulates cell-cell adhesion via its interaction with CDH1; this stabilizes the complexes between CDH1 (E-cadherin) and its interaction partners CTNNB1 (beta-catenin), CTNND1 and JUP (gamma-catenin) (PubMed:11226248). Under conditions of apoptosis or calcium influx, cleaves CDH1 (PubMed:11953314). This promotes the disassembly of the complexes between CDH1 and CTNND1, JUP and CTNNB1, increases the pool of cytoplasmic CTNNB1, and thereby negatively regulates Wnt signaling (PubMed:11226248). Required for normal embryonic brain and skeleton development, and for normal angiogenesis (PubMed:9160754, PubMed:10421573, PubMed:12834865). Mediates the proteolytic cleavage of EphB2/CTF1 into EphB2/CTF2 (PubMed:17428795). The holoprotein functions as a calcium-leak channel that allows the passive movement of calcium from endoplasmic reticulum to cytosol and is involved in calcium homeostasis (PubMed:16959576). Involved in the regulation of neurite outgrowth (By similarity). Is a regulator of presynaptic facilitation, spike transmission and synaptic vesicles replenishment in a process that depends on gamma-secretase activity. It acts through the control of SYT7 presynaptic expression (PubMed:30429473).By similarity9 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei257By similarity1
Active sitei385By similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase, Protease
Biological processApoptosis, Cell adhesion, Notch signaling pathway

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-MMU-193692 Regulated proteolysis of p75NTR
R-MMU-205043 NRIF signals cell death from the nucleus
R-MMU-6798695 Neutrophil degranulation
R-MMU-9013507 NOTCH3 Activation and Transmission of Signal to the Nucleus

Protein family/group databases

MEROPS protease database

More...
MEROPSi
A22.001

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Presenilin-1 (EC:3.4.23.-)
Short name:
PS-1
Alternative name(s):
Protein S182
Cleaved into the following 3 chains:
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:Psen1
Synonyms:Ad3h, Psnl1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiMus musculus (Mouse)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri10090 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000000589 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Mouse genome database (MGD) from Mouse Genome Informatics (MGI)

More...
MGIi
MGI:1202717 Psen1

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 82CytoplasmicBy similarityAdd BLAST82
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei83 – 103HelicalBy similarityAdd BLAST21
Topological domaini104 – 132LumenalBy similarityAdd BLAST29
Transmembranei133 – 153HelicalBy similarityAdd BLAST21
Topological domaini154 – 166CytoplasmicBy similarityAdd BLAST13
Transmembranei167 – 189HelicalBy similarityAdd BLAST23
Topological domaini190 – 194LumenalBy similarity5
Transmembranei195 – 216HelicalBy similarityAdd BLAST22
Topological domaini217 – 220CytoplasmicBy similarity4
Transmembranei221 – 241HelicalBy similarityAdd BLAST21
Topological domaini242 – 248LumenalBy similarity7
Transmembranei249 – 272HelicalBy similarityAdd BLAST24
Topological domaini273 – 380CytoplasmicBy similarityAdd BLAST108
Transmembranei381 – 401HelicalBy similarityAdd BLAST21
Topological domaini402 – 407LumenalBy similarity6
Transmembranei408 – 428HelicalBy similarityAdd BLAST21
Topological domaini429 – 432CytoplasmicBy similarity4
Transmembranei433 – 453HelicalBy similarityAdd BLAST21
Topological domaini454 – 467LumenalBy similarityAdd BLAST14

Keywords - Cellular componenti

Cell junction, Cell membrane, Cell projection, Cytoplasmic vesicle, Endoplasmic reticulum, Endosome, Golgi apparatus, Membrane, Synapse

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section describes the in vivo effects caused by ablation of the gene (or one or more transcripts) coding for the protein described in the entry. This includes gene knockout and knockdown, provided experiments have been performed in the context of a whole organism or a specific tissue, and not at the single-cell level.<p><a href='/help/disruption_phenotype' target='_top'>More...</a></p>Disruption phenotypei

Perinatal lethality; all of the homozygous mutants die within 30 minutes after birth (PubMed:9160754). Heterozygotes have no visible phenotype (PubMed:9160754). Mutant mice display important skeletal malformations (PubMed:9160754, PubMed:10421573). After 12.5 dpc, they exhibit important defects in embryonic brain development, with a decrease in the number of neural progenitor cells in specific brain regions (PubMed:9160754, PubMed:10421573). The cell density in the marginal zone is normal at 13 dpc, but then becomes much reduced, including a strong reduction in the number of Cajal-Retzius cells (PubMed:10421573). At the same time, Notch1 expression is reduced in the developing brain cortex (PubMed:10421573). At 17.5 dpc, all layers of the ventricular zone in the ventrolateral region at the posterior portion of the lateral ventricles have disappeared, giving rise to symmetric cavitation in the posterior part of the brain (PubMed:9160754). They also display cranial hemorrhages that are first observed at 12.5 dpc (PubMed:9160754, PubMed:10421573, PubMed:12834865). This is due to defects in angiogenesis, with increased blood vessel diameter and abnormal morphology and increased proliferation of capillary endothelial cells that lead to stenosis of the capillary lumen (PubMed:12834865). Psen1-deficient mice can be rescued by neuronal expression of human PSEN1; these mice lack any detectable PSEN1 in their skin and display increased levels of cytosolic and nuclear CTNNB1 in skin, which leads to aberrant Wnt signaling (PubMed:11517342). Mutant mice display epidermal hyperplasia and hyperkeratosis that gives rise to skin tumors (PubMed:11517342).4 Publications

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000255971 – 298Presenilin-1 NTF subunitBy similarityAdd BLAST298
ChainiPRO_0000025598299 – 467Presenilin-1 CTF subunitBy similarityAdd BLAST169
ChainiPRO_0000236058346 – 467Presenilin-1 CTF12By similarityAdd BLAST122

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei51PhosphoserineBy similarity1
Modified residuei329PhosphoserineCombined sources1
Modified residuei346Phosphoserine; by PKCBy similarity1
Modified residuei367PhosphoserineCombined sources1
Modified residuei370PhosphothreonineCombined sources1
Modified residuei371PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Heterogeneous proteolytic processing generates N-terminal (NTF) and C-terminal (CTF) fragments of approximately 35 and 20 kDa, respectively. During apoptosis, the C-terminal fragment (CTF) is further cleaved by caspase-3 to produce the fragment, PS1-CTF12.By similarity
After endoproteolysis, the C-terminal fragment (CTF) is phosphorylated on serine residues by PKA and/or PKC. Phosphorylation on Ser-346 inhibits endoproteolysis.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei291 – 292Cleavage; alternateBy similarity2
Sitei292 – 293Cleavage; alternateBy similarity2
Sitei298 – 299CleavageBy similarity2
Sitei345 – 346Cleavage; by caspaseBy similarity2

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P49769

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
P49769

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P49769

PeptideAtlas

More...
PeptideAtlasi
P49769

PRoteomics IDEntifications database

More...
PRIDEi
P49769

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P49769

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P49769

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P49769

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Detected in embryonic brain (PubMed:10421573). Detected in adult skin epidermis (at protein level) (PubMed:11517342).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSMUSG00000019969 Expressed in 306 organ(s), highest expression level in urinary bladder urothelium

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P49769 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P49769 MM

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer. The functional gamma-secretase complex is composed of at least four polypeptides: 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 and PHB. 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 (PubMed:11226248). 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, CTNND1, JUP, HERPUD1, FLNA, FLNB, MTCH1, PKP4 and PARL.

Interacts through its N-terminus with GFAP (By similarity).

Interacts with DOCK3 (PubMed:10854253).

Interacts with UBQLN1 (By similarity).

By similarity2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
202414, 24 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...
ComplexPortali
CPX-4234 Gamma-secretase complex, Aph1a-Psen1 variant
CPX-4235 Gamma-secretase complex, Aph1b-Psen1 variant

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
P49769

Database of interacting proteins

More...
DIPi
DIP-36237N

Protein interaction database and analysis system

More...
IntActi
P49769, 26 interactors

Molecular INTeraction database

More...
MINTi
P49769

STRING: functional protein association networks

More...
STRINGi
10090.ENSMUSP00000098786

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni288 – 290Important for cleavage of target proteinsBy similarity3
Regioni322 – 450Required for interaction with CTNNB1By similarityAdd BLAST129
Regioni372 – 399Required for interaction with CTNND2By similarityAdd BLAST28
Regioni377 – 381Important for cleavage of target proteinsBy similarity5
Regioni432 – 434Important for cleavage of target proteinsBy similarity3
Regioni464 – 467Interaction with MTCH1By similarity4

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi433 – 435PAL3

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The PAL motif is required for normal active site conformation.By similarity
Substrates, such as NOTCH1 and APP peptides, are bound between PSEN1 transmembrane domains and via the first lumenal loop and the cytoplasmic loop between the sixth and seventh transmembrane domains. Substrate binding causes a conformation change and formation of an intermolecular antiparallel beta-sheet between PSEN1 and its substrates.By similarity

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the peptidase A22A family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2736 Eukaryota
ENOG410XPZD LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158751

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000240228

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P49769

Identification of Orthologs from Complete Genome Data

More...
OMAi
AMDYITL

Database of Orthologous Groups

More...
OrthoDBi
797738at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P49769

TreeFam database of animal gene trees

More...
TreeFami
TF315040

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.472.100, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR002031 Pept_A22A_PS1
IPR001108 Peptidase_A22A
IPR006639 Preselin/SPP
IPR042524 Presenilin_C

The PANTHER Classification System

More...
PANTHERi
PTHR10202 PTHR10202, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01080 Presenilin, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR01072 PRESENILIN
PR01073 PRESENILIN1

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00730 PSN, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: P49769-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MTEIPAPLSY FQNAQMSEDS HSSSAIRSQN DSQERQQQHD RQRLDNPEPI
60 70 80 90 100
SNGRPQSNSR QVVEQDEEED EELTLKYGAK HVIMLFVPVT LCMVVVVATI
110 120 130 140 150
KSVSFYTRKD GQLIYTPFTE DTETVGQRAL HSILNAAIMI SVIVIMTILL
160 170 180 190 200
VVLYKYRCYK VIHAWLIISS LLLLFFFSFI YLGEVFKTYN VAVDYVTVAL
210 220 230 240 250
LIWNFGVVGM IAIHWKGPLR LQQAYLIMIS ALMALVFIKY LPEWTAWLIL
260 270 280 290 300
AVISVYDLVA VLCPKGPLRM LVETAQERNE TLFPALIYSS TMVWLVNMAE
310 320 330 340 350
GDPEAQRRVP KNPKYNTQRA ERETQDSGSG NDDGGFSEEW EAQRDSHLGP
360 370 380 390 400
HRSTPESRAA VQELSGSILT SEDPEERGVK LGLGDFIFYS VLVGKASATA
410 420 430 440 450
SGDWNTTIAC FVAILIGLCL TLLLLAIFKK ALPALPISIT FGLVFYFATD
460
YLVQPFMDQL AFHQFYI
Length:467
Mass (Da):52,640
Last modified:October 1, 1996 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iD07215B4BAD2D549
GO
Isoform 2 (identifier: P49769-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     257-261: DLVAV → GKAQD
     262-467: Missing.

Note: Due to intron retention. No experimental confirmation available.
Show »
Length:261
Mass (Da):29,849
Checksum:i16FB53FBE20EA4EB
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural varianti9S → T in strain: SAM P8. 1
Natural varianti40D → E in strain: SAM P8. 1
Natural varianti67E → CM in strain: SAM P8. 1
Natural varianti196V → L in strain: SAM P8. 1
Natural varianti321 – 322ER → RRD in strain: SAM P8. 2

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_008381257 – 261DLVAV → GKAQD in isoform 2. 1 Publication5
Alternative sequenceiVSP_008382262 – 467Missing in isoform 2. 1 PublicationAdd BLAST206

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
L42177 mRNA Translation: AAC42094.1
AF007560 Genomic DNA Translation: AAB72049.1
AF149111 mRNA Translation: AAF73153.1
BC014744 mRNA Translation: AAH14744.1
BC030409 mRNA Translation: AAH30409.1
BC071233 mRNA Translation: AAH71233.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS26030.1 [P49769-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
I78388

NCBI Reference Sequences

More...
RefSeqi
NP_032969.1, NM_008943.2
XP_006515668.1, XM_006515605.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENSMUST00000041806; ENSMUSP00000048363; ENSMUSG00000019969 [P49769-1]
ENSMUST00000101225; ENSMUSP00000098786; ENSMUSG00000019969 [P49769-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
19164

UCSC genome browser

More...
UCSCi
uc007odo.1 mouse [P49769-2]
uc007odp.1 mouse [P49769-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L42177 mRNA Translation: AAC42094.1
AF007560 Genomic DNA Translation: AAB72049.1
AF149111 mRNA Translation: AAF73153.1
BC014744 mRNA Translation: AAH14744.1
BC030409 mRNA Translation: AAH30409.1
BC071233 mRNA Translation: AAH71233.1
CCDSiCCDS26030.1 [P49769-1]
PIRiI78388
RefSeqiNP_032969.1, NM_008943.2
XP_006515668.1, XM_006515605.3

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi202414, 24 interactors
ComplexPortaliCPX-4234 Gamma-secretase complex, Aph1a-Psen1 variant
CPX-4235 Gamma-secretase complex, Aph1b-Psen1 variant
CORUMiP49769
DIPiDIP-36237N
IntActiP49769, 26 interactors
MINTiP49769
STRINGi10090.ENSMUSP00000098786

Protein family/group databases

MEROPSiA22.001

PTM databases

iPTMnetiP49769
PhosphoSitePlusiP49769
SwissPalmiP49769

Proteomic databases

EPDiP49769
jPOSTiP49769
PaxDbiP49769
PeptideAtlasiP49769
PRIDEiP49769

Genome annotation databases

EnsembliENSMUST00000041806; ENSMUSP00000048363; ENSMUSG00000019969 [P49769-1]
ENSMUST00000101225; ENSMUSP00000098786; ENSMUSG00000019969 [P49769-1]
GeneIDi19164
UCSCiuc007odo.1 mouse [P49769-2]
uc007odp.1 mouse [P49769-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
5663
MGIiMGI:1202717 Psen1

Phylogenomic databases

eggNOGiKOG2736 Eukaryota
ENOG410XPZD LUCA
GeneTreeiENSGT00940000158751
HOGENOMiHOG000240228
InParanoidiP49769
OMAiAMDYITL
OrthoDBi797738at2759
PhylomeDBiP49769
TreeFamiTF315040

Enzyme and pathway databases

ReactomeiR-MMU-193692 Regulated proteolysis of p75NTR
R-MMU-205043 NRIF signals cell death from the nucleus
R-MMU-6798695 Neutrophil degranulation
R-MMU-9013507 NOTCH3 Activation and Transmission of Signal to the Nucleus

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
Psen1 mouse

Protein Ontology

More...
PROi
PR:P49769

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSMUSG00000019969 Expressed in 306 organ(s), highest expression level in urinary bladder urothelium
ExpressionAtlasiP49769 baseline and differential
GenevisibleiP49769 MM

Family and domain databases

Gene3Di1.10.472.100, 1 hit
InterProiView protein in InterPro
IPR002031 Pept_A22A_PS1
IPR001108 Peptidase_A22A
IPR006639 Preselin/SPP
IPR042524 Presenilin_C
PANTHERiPTHR10202 PTHR10202, 1 hit
PfamiView protein in Pfam
PF01080 Presenilin, 1 hit
PRINTSiPR01072 PRESENILIN
PR01073 PRESENILIN1
SMARTiView protein in SMART
SM00730 PSN, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPSN1_MOUSE
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P49769
Secondary accession number(s): Q91WK6, Q9JLP9
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: October 16, 2019
This is version 201 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Peptidase families
    Classification of peptidase families and list of entries
  3. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again