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PSEN1
HPA
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Field
Term
Gene name
Class
Subclass
Class
Keyword
Chromosome
External id
Tissue
Cell type
Expression
Antibody panel
Tissue
Main location
Patient ID
Annotation
Tissue
Category
Tau score
Cluster
Reliability
Brain region
Category
Tau score
Brain region
Category
Tau score
Brain region
Category
Tau score
Cluster
Reliability
Tissue
Cell type
Enrichment
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell lineage
Category
Tau score
Cluster
Cluster
Location
Searches
Location
Cell line
Class
Type
Phase
Reliability
Cancer
Prognosis
Cancer
Category
Cancer
Category
Tau score
Cluster
Variants
Interacting gene (ensg_id)
Type
Number of interactions
Pathway
Category
Score
Score
Score
Validation
Validation
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Validation
Antibodies
Data type
Column


  • SUMMARY

  • TISSUE

  • BRAIN

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  • BLOOD

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  • STRUCT & INT

  • PSEN1
STRUCTURE & INTERACTION STRUCTURE INTERACTION
Protein structures
Protein interactions
Human metabolism
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

PSEN1
Synonyms AD3, FAD, PS1, S182
Gene descriptioni

Full gene name according to HGNC.

Presenilin 1
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Cancer-related genes
Disease related genes
Enzymes
Human disease related genes
Potential drug targets
Transporters
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Membrane, Intracellular
Protein evidence Evidence at protein level (all genes)

HUMAN PROTEIN ATLAS INFORMATIONi

Summary of RNA expression analysis and annotation data generated within the Human Protein Atlas project.

Single cell type
expression clusteri

The RNA data was used to cluster genes according to their expression across single cell types. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Oligodendrocytes - Unknown function (mainly)
Single cell type specificityi

The RNA specificity category is based on mRNA expression levels in the analyzed cell types based on scRNA-seq data from normal tissues. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected.

Group enriched (monocytes, Oligodendrocytes)
Tissue expression
cluster (RNA)i

The RNA data was used to cluster genes according to their expression across tissues. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Oligodendrocytes - Myelination (mainly)
Tissue specificity (RNA)i

The RNA specificity category is based on mRNA expression levels in the consensus dataset which is calculated from the RNA expression levels in samples from HPA and GTEX. The categories include: tissue enriched, group enriched, tissue enhanced, low tissue specificity and not detected.

Low tissue specificity
Subcellular locationi

Main subcellular location based on data generated in the subcellular section of the Human Protein Atlas.

Localized to the Golgi apparatus In addition localized to the Nucleoplasm, Cell Junctions
Secretome annotationi

All genes with at least one predicted secreted isoform have been annotated and classified with the aim to determine if the corresponding protein(s) are:

  • secreted into blood
  • locally secreted
  • or actually being attached to membrane or retained in intracellular locations like mitochondria, endoplasmatic reticulum (ER), Golgi apparatus or lysosomes.

Not available
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 14
Cytoband q24.2
Chromosome location (bp) 73136418 - 73223691
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

38
Ensembl ENSG00000080815 (version 109)
Entrez gene 5663
HGNC HGNC:9508
UniProt P49768 (UniProt - Evidence at protein level)
neXtProt NX_P49768
GeneCards PSEN1
ASSAYSi

Links to data of the different assays available in the Structure & Interaction resource of the Human Protein Atlas. Click on the miniature images to directly get to the respective section.

Proteinstructure Interaction
PROTEIN BROWSERi

The Structure section provides in-house generated structures, predicted using the Alphafold source code, for the majority of the proteins and their related isoforms.

Displaying protein features on the AlphaFold structures

Individual splice variants can be selected in the top part of the Protein Browser (see below) and different transcript-related features such as transmembrane regions, InterPro domains and antigen sequences for antibodies can be displayed in the structure by clicking on the respective features in the Protein Browser.

Clinical and population-based amino acid variants based on data from the Ensembl variation database and AlphaMissense (AM) predictions can be highlighted using the sliders to the right of the structure. These can also be used to colour the entire structure by residue index or make the structure autorotate.The structures are displayed using the NGL Viewer and can also be zoomed-in and rotated manually.

The Protein Browser

The ProteinBrowser displays the antigen location on the target protein(s) and the features of the target protein. Transcript names and schematic transcript structures including exons, introns and UTRs for the different isoforms are shown on top, and can be used to switch between the structures for the different splice variants.

At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.

Below the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).

The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).

Signal peptides (turquoise) and membrane regions (orange) based on predictions using the majority decision methods MDM and MDSEC are also displayed.

Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
«
PSEN1-201
PSEN1-202
PSEN1-203
PSEN1-204
PSEN1-207
PSEN1-209
PSEN1-211
PSEN1-216
PSEN1-217
PSEN1-218
PSEN1-219
PSEN1-220
PSEN1-221
PSEN1-222
PSEN1-224
PSEN1-229
PSEN1-231
PSEN1-232
PSEN1-233
PSEN1-235
PSEN1-237
PSEN1-242
PSEN1-243
PSEN1-248
PSEN1-249
PSEN1-253
PSEN1-256
PSEN1-257
PSEN1-258
PSEN1-259
PSEN1-260
PSEN1-262
PSEN1-265
PSEN1-268
PSEN1-279
PSEN1-285
PSEN1-287
PSEN1-288
»

Description:

Color scheme:
Confidence
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Variants:
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Alphamissense variants:
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Benign
Pathogenic
Autorotate:
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PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
PSEN1-201
P49768
Show all
A0A024R6A3
Show all
Enzymes
Transporters
Predicted membrane proteins
Cancer-related genes
Disease related genes
Potential drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
467 aa
52.7 kDa
No 8
PSEN1-202
P49768
Show all
A0A0S2Z4D2
Show all
Enzymes
Transporters
Predicted membrane proteins
Cancer-related genes
Disease related genes
Potential drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
463 aa
52.2 kDa
No 8
PSEN1-203
P49768
Show all
Enzymes
Transporters
Predicted membrane proteins
Cancer-related genes
Disease related genes
Potential drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
184 aa
21.1 kDa
No 3
PSEN1-204
P49768
Show all
A0A0S2Z4D2
Show all
Enzymes
Transporters
Predicted membrane proteins
Cancer-related genes
Disease related genes
Potential drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
463 aa
52.2 kDa
No 8
PSEN1-207
G3V2B1
A0A0S2Z4D2
Show all
Predicted membrane proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
463 aa
52.2 kDa
No 8
PSEN1-209
G3V4P4
A0A024R6A3
Show all
Predicted membrane proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
467 aa
52.7 kDa
No 8
PSEN1-211
G3V2G7
Show all
Predicted membrane proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
155 aa
17.6 kDa
No 2
PSEN1-216
G3V519
Show all
Predicted membrane proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
92 aa
10.6 kDa
No 1
PSEN1-217
G3V449
Show all
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
63 aa
7.3 kDa
No 0
PSEN1-218
G3V2B1
A0A0S2Z4D2
Show all
Predicted membrane proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
463 aa
52.2 kDa
No 8
PSEN1-219
G3V3P0
Show all
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
62 aa
7.1 kDa
No 0
PSEN1-220
G3V4M0
Show all
Predicted membrane proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
427 aa
48.1 kDa
No 6
PSEN1-221
G3V3Z0
Show all
Predicted membrane proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
135 aa
15.3 kDa
No 1
PSEN1-222
P49768
Show all
Enzymes
Transporters
Predicted membrane proteins
Cancer-related genes
Disease related genes
Potential drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
409 aa
46.3 kDa
No 8
PSEN1-224
H0YM52
Show all
Predicted membrane proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
109 aa
12.5 kDa
No 1
PSEN1-229
A0A0S2Z4D2
Show all
Predicted membrane proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
463 aa
52.2 kDa
No 8
PSEN1-231
A0A024R6A3
Show all
Predicted membrane proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
467 aa
52.7 kDa
No 8
PSEN1-232
A0A024R6A3
Show all
Predicted membrane proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
467 aa
52.7 kDa
No 8
PSEN1-233
A0A024R6A3
Show all
Predicted membrane proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
467 aa
52.7 kDa
No 8
PSEN1-235
Predicted membrane proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
405 aa
45.9 kDa
No 8
PSEN1-237
A0A0S2Z4D2
Show all
Predicted membrane proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
463 aa
52.2 kDa
No 8
PSEN1-242
A0A024R6A3
Show all
Predicted membrane proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
467 aa
52.7 kDa
No 8
PSEN1-243
Predicted membrane proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
434 aa
49 kDa
No 8
PSEN1-248
Predicted membrane proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
384 aa
43.1 kDa
No 7
PSEN1-249
A0A0S2Z4D2
Show all
Predicted membrane proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
463 aa
52.2 kDa
No 8
PSEN1-253
A0A024R6A3
Show all
Predicted membrane proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
467 aa
52.7 kDa
No 8
PSEN1-256
Predicted membrane proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
476 aa
53.8 kDa
No 7
PSEN1-257
A0A024R6A3
Show all
Predicted membrane proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
467 aa
52.7 kDa
No 8
PSEN1-258
A0A0S2Z4D2
Show all
Predicted membrane proteins
Cancer-related genes
Human disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
463 aa
52.2 kDa
No 8
PSEN1-259
A0A024R6A3
Show all
Predicted membrane proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
467 aa
52.7 kDa
No 8
PSEN1-260
A0A0S2Z4D2
Show all
Predicted membrane proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
463 aa
52.2 kDa
No 8
PSEN1-262
A0A024R6A3
Show all
Predicted membrane proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
467 aa
52.7 kDa
No 8
PSEN1-265
A0A024R6A3
Show all
Predicted membrane proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
467 aa
52.7 kDa
No 8
PSEN1-268
A0A0S2Z4D2
Show all
Predicted membrane proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
463 aa
52.2 kDa
No 8
PSEN1-279
Predicted membrane proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
180 aa
20.6 kDa
No 3
PSEN1-285
Predicted membrane proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
384 aa
43.1 kDa
No 7
PSEN1-287
Predicted membrane proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
430 aa
48.5 kDa
No 8
PSEN1-288
A0A0S2Z4D2
Show all
Predicted membrane proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
463 aa
52.2 kDa
No 8
Show allShow less
INTERACTIONi

In the Interaction part of this page network plots showing the gene's interaction partners according to four different datasets are displayed, including a consensus network plot showing only interactions present in at least two of the datasets. In the network plots the nodes represent genes and edge color represent the number of datasets the interaction belongs to.

The highlight bar in the top of the plot can be used to color the nodes according to subcellular location (based on data in the Subcellular section), predicted location (based on signalpeptide and transmembrane region predictions), tissue specificity (based on RNA tissue expression profiles) or proteinclass. For genes categorised as single cell type or group specific the option to highlight interaction partners expressed in the same cell type will also be available in the highlight bar.

Custom highlighting of nodes is possible using the top left Filter option in which a query of choice can be built to for example label all nodes that are tissue enriched in both human and mouse brain or those that belongs to a certain tissue expression cluster. The expression cluster for the gene is stated in the box Human Protein Atlas Information above the network plot. Click on Filter in the top left in the plot to find the query builder and some example queries.

Interactions included are direct interaction and physical associations with high and medium confidence from IntAct, physical multivalidated interactions from BioGRID, interactions with>75% probability from BioPlex and significant physical interactions from OpenCell.

Filter menu »
Fields »
e.g. Brain enriched, Localized to mitochondria, Oligodendrocytes - Myelination

Field
Term
Gene name
Class
Subclass
Class
Keyword
Chromosome
External id
Tissue
Cell type
Expression
Antibody panel
Tissue
Main location
Patient ID
Annotation
Tissue
Category
Tau score
Cluster
Reliability
Brain region
Category
Tau score
Brain region
Category
Tau score
Brain region
Category
Tau score
Cluster
Reliability
Tissue
Cell type
Enrichment
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell lineage
Category
Tau score
Cluster
Cluster
Location
Searches
Location
Cell line
Class
Type
Phase
Reliability
Cancer
Prognosis
Cancer
Category
Cancer
Category
Tau score
Cluster
Variants
Interacting gene (ensg_id)
Type
Number of interactions
Pathway
Category
Score
Score
Score
Validation
Validation
Validation
Validation
Antibodies
Data type
Column


Consensus
IntAct
BioGrid
OpenCell
BioPlex
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class
In same cell type



Number of interactions: 11
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
APH1A321602
APP4431413310
CDC37651271711928
CDH19355527
ECSIT91423031
FLNB582960
NCSTN46610
PKP4281200
PSENEN310500
ST13351500
UBQLN1292146350
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class
In same cell type



Number of interactions: 18 View all protein interaction data in IntAct
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
APBA1431005
APH1A321602
APP4431413310
BACE1410800
CDC37651271711928
CDH19355527
ECSIT91423031
FLNA7188060
FLNB582960
GCDH12300
NCSTN46610
PKP4281200
PSENEN310500
ST13351500
TMBIM62564012
TMED101782510120
TREM203000
UBQLN1292146350
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class
In same cell type



Number of interactions: 32
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
APH1A321602
APP4431413310
BCL218255400
CDC37651271711928
CDH19355527
CTNNB147852691313
CTNND1684820
DHCR24215832
ECSIT91423031
ERLIN28543103
FKBP8213465460
FLNB582960
GFAP81481700
GSK3B272918380
HERPUD100800
ICAM51224015
KCNIP3012800
KRAS95394160
NCSTN46610
NOTCH171166019
PKP4281200
PSEN28411701
PSENEN310500
PSMA5405624422
PSMB14384634320
PSMD24133964013
SKP16354147853
ST13351500
TGFBR1234310
TRAF6316014803
UBC345845240
UBQLN1292146350
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class
In same cell type



Number of interactions: 2
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
DNAJC225634790
VAMP31846316223
PSEN1 has no defined protein interactions in BioPlex.
METABOLIC SUMMARYi

In this summary the pathway/subsystems to which the gene belongs is shown together with the associated cellular compartment for the reactions based on metabolite information. The number of proteins and metabolites in the pathway is shown as well as the number of reactions for the selected gene. By clicking on a pathway in the summary table the associated metabolic network map is shown, together with a gene-tissue heatmap that shows the expression of genes in that pathway in different tissues.

PSEN1 is not a metabolic protein

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