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PSEN1
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  • PSEN1
PROTEIN STRUCTURE
ANTIBODIES
AND
VALIDATION
Protein structures
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).

Read more
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.

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

19
Ensembl ENSG00000080815 (version 103.38)
Entrez gene 5663
HGNC HGNC:9508
UniProt P49768 (UniProt - Evidence at protein level)
neXtProt NX_P49768
Antibodypedia PSEN1 antibodies


PROTEIN STRUCTUREi

The Structure section provides predicted structures from the Alphafold protein structure database and available experimental structures from Protein Data Bank (PDB).

In the Structure drop-down menu all experimental structures from PDB are available for selection and display. The structures are displayed using the NGL Viewer and can be zoomed-in and rotated either manually or by checking the Autorotate box. The Color scheme can be selected to show the residue index, chain name or confidence score (as B-factors and pLDDT score for experimental and predicted structures, respectively). The positions for available antigen sequences in the structure are shown if Antigens is turned to ON, and the Variants slider can be used to show the positions of clinical and population variants.https://github.com/nglviewer/ngl

Read more

Predicted


Description: Structure prediction from Alphafold project. Structure version 2

# Chains: 1      # Clinical variants: 68      # Population variants: 190

Antigens:

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On

Variants:

Off
Clinical
Population

Color scheme:

Confidence
Residue index
Chain name

Autorotate:

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On



PROTEIN BROWSERi

The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The tabs at the top of the protein view section can be used to switch between the different splice variants to which an antigen has been mapped.

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).

If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are 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
PSEN1-205
PSEN1-207
PSEN1-208
PSEN1-210
PSEN1-212
PSEN1-215
PSEN1-216
PSEN1-217
PSEN1-218
PSEN1-219
PSEN1-220
PSEN1-221
PSEN1-222
PSEN1-223
PSEN1-225
»


PROTEIN INFORMATIONi

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

The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.

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 Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Splice variant UniProt Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
PSEN1-201
ENSP00000326366
ENST00000324501
P49768 [Direct mapping]
Presenilin-1 Presenilin-1 NTF subunit Presenilin-1 CTF subunit Presenilin-1 CTF12
A0A024R6A3 [Target identity:100%; Query identity:100%]
Presenilin
Show all
Enzymes
   Peptidases
   Aspartic-type peptidases
Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   8TM proteins predicted by MDM
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
Potential drug targets
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Nervous system diseases
   Neurodegenerative diseases
   Skin diseases
   Skin and soft tissue diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000045 [autophagosome assembly]
GO:0000122 [negative regulation of transcription by RNA polymerase II]
GO:0000139 [Golgi membrane]
GO:0000186 [activation of MAPKK activity]
GO:0000776 [kinetochore]
GO:0001568 [blood vessel development]
GO:0001708 [cell fate specification]
GO:0001756 [somitogenesis]
GO:0001764 [neuron migration]
GO:0001921 [positive regulation of receptor recycling]
GO:0001933 [negative regulation of protein phosphorylation]
GO:0001934 [positive regulation of protein phosphorylation]
GO:0001947 [heart looping]
GO:0002038 [positive regulation of L-glutamate import across plasma membrane]
GO:0002244 [hematopoietic progenitor cell differentiation]
GO:0002265 [astrocyte activation involved in immune response]
GO:0002286 [T cell activation involved in immune response]
GO:0002573 [myeloid leukocyte differentiation]
GO:0003407 [neural retina development]
GO:0004175 [endopeptidase activity]
GO:0004190 [aspartic-type endopeptidase activity]
GO:0005262 [calcium channel activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005640 [nuclear outer membrane]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0005765 [lysosomal membrane]
GO:0005768 [endosome]
GO:0005769 [early endosome]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005790 [smooth endoplasmic reticulum]
GO:0005791 [rough endoplasmic reticulum]
GO:0005794 [Golgi apparatus]
GO:0005813 [centrosome]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0005938 [cell cortex]
GO:0006469 [negative regulation of protein kinase activity]
GO:0006486 [protein glycosylation]
GO:0006508 [proteolysis]
GO:0006509 [membrane protein ectodomain proteolysis]
GO:0006816 [calcium ion transport]
GO:0006839 [mitochondrial transport]
GO:0006874 [cellular calcium ion homeostasis]
GO:0006914 [autophagy]
GO:0006915 [apoptotic process]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0006979 [response to oxidative stress]
GO:0007155 [cell adhesion]
GO:0007175 [negative regulation of epidermal growth factor-activated receptor activity]
GO:0007176 [regulation of epidermal growth factor-activated receptor activity]
GO:0007219 [Notch signaling pathway]
GO:0007220 [Notch receptor processing]
GO:0007420 [brain development]
GO:0007507 [heart development]
GO:0007611 [learning or memory]
GO:0007613 [memory]
GO:0008013 [beta-catenin binding]
GO:0008021 [synaptic vesicle]
GO:0008233 [peptidase activity]
GO:0009791 [post-embryonic development]
GO:0009986 [cell surface]
GO:0010008 [endosome membrane]
GO:0010467 [gene expression]
GO:0010468 [regulation of gene expression]
GO:0010628 [positive regulation of gene expression]
GO:0010629 [negative regulation of gene expression]
GO:0010975 [regulation of neuron projection development]
GO:0015031 [protein transport]
GO:0015871 [choline transport]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016080 [synaptic vesicle targeting]
GO:0016235 [aggresome]
GO:0016324 [apical plasma membrane]
GO:0016485 [protein processing]
GO:0016787 [hydrolase activity]
GO:0021549 [cerebellum development]
GO:0021795 [cerebral cortex cell migration]
GO:0021870 [Cajal-Retzius cell differentiation]
GO:0021904 [dorsal/ventral neural tube patterning]
GO:0021987 [cerebral cortex development]
GO:0022008 [neurogenesis]
GO:0030018 [Z disc]
GO:0030054 [cell junction]
GO:0030165 [PDZ domain binding]
GO:0030182 [neuron differentiation]
GO:0030326 [embryonic limb morphogenesis]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
GO:0030900 [forebrain development]
GO:0031293 [membrane protein intracellular domain proteolysis]
GO:0031410 [cytoplasmic vesicle]
GO:0031594 [neuromuscular junction]
GO:0031901 [early endosome membrane]
GO:0031965 [nuclear membrane]
GO:0032092 [positive regulation of protein binding]
GO:0032436 [positive regulation of proteasomal ubiquitin-dependent protein catabolic process]
GO:0032469 [endoplasmic reticulum calcium ion homeostasis]
GO:0032760 [positive regulation of tumor necrosis factor production]
GO:0032991 [protein-containing complex]
GO:0034205 [amyloid-beta formation]
GO:0035253 [ciliary rootlet]
GO:0035282 [segmentation]
GO:0035333 [Notch receptor processing, ligand-dependent]
GO:0035556 [intracellular signal transduction]
GO:0035577 [azurophil granule membrane]
GO:0040011 [locomotion]
GO:0042307 [positive regulation of protein import into nucleus]
GO:0042325 [regulation of phosphorylation]
GO:0042327 [positive regulation of phosphorylation]
GO:0042383 [sarcolemma]
GO:0042500 [aspartic endopeptidase activity, intramembrane cleaving]
GO:0042982 [amyloid precursor protein metabolic process]
GO:0042987 [amyloid precursor protein catabolic process]
GO:0042995 [cell projection]
GO:0043005 [neuron projection]
GO:0043011 [myeloid dendritic cell differentiation]
GO:0043025 [neuronal cell body]
GO:0043065 [positive regulation of apoptotic process]
GO:0043066 [negative regulation of apoptotic process]
GO:0043085 [positive regulation of catalytic activity]
GO:0043198 [dendritic shaft]
GO:0043227 [membrane-bounded organelle]
GO:0043312 [neutrophil degranulation]
GO:0043393 [regulation of protein binding]
GO:0043406 [positive regulation of MAP kinase activity]
GO:0043524 [negative regulation of neuron apoptotic process]
GO:0043589 [skin morphogenesis]
GO:0044267 [cellular protein metabolic process]
GO:0045121 [membrane raft]
GO:0045202 [synapse]
GO:0045296 [cadherin binding]
GO:0045821 [positive regulation of glycolytic process]
GO:0045860 [positive regulation of protein kinase activity]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0048013 [ephrin receptor signaling pathway]
GO:0048143 [astrocyte activation]
GO:0048167 [regulation of synaptic plasticity]
GO:0048471 [perinuclear region of cytoplasm]
GO:0048538 [thymus development]
GO:0048666 [neuron development]
GO:0048705 [skeletal system morphogenesis]
GO:0048854 [brain morphogenesis]
GO:0050435 [amyloid-beta metabolic process]
GO:0050673 [epithelial cell proliferation]
GO:0050771 [negative regulation of axonogenesis]
GO:0050808 [synapse organization]
GO:0050820 [positive regulation of coagulation]
GO:0050852 [T cell receptor signaling pathway]
GO:0051117 [ATPase binding]
GO:0051208 [sequestering of calcium ion]
GO:0051402 [neuron apoptotic process]
GO:0051444 [negative regulation of ubiquitin-protein transferase activity]
GO:0051563 [smooth endoplasmic reticulum calcium ion homeostasis]
GO:0051604 [protein maturation]
GO:0051966 [regulation of synaptic transmission, glutamatergic]
GO:0060075 [regulation of resting membrane potential]
GO:0060828 [regulation of canonical Wnt signaling pathway]
GO:0060999 [positive regulation of dendritic spine development]
GO:0070588 [calcium ion transmembrane transport]
GO:0070765 [gamma-secretase complex]
GO:0070851 [growth factor receptor binding]
GO:0090647 [modulation of age-related behavioral decline]
GO:0097060 [synaptic membrane]
GO:0098609 [cell-cell adhesion]
GO:0098712 [L-glutamate import across plasma membrane]
GO:0099056 [integral component of presynaptic membrane]
GO:1904646 [cellular response to amyloid-beta]
GO:1904797 [negative regulation of core promoter binding]
GO:1905908 [positive regulation of amyloid fibril formation]
GO:1990535 [neuron projection maintenance]
GO:2000059 [negative regulation of ubiquitin-dependent protein catabolic process]
GO:2001234 [negative regulation of apoptotic signaling pathway]
Show all
467 aa
52.7 kDa
No 8
PSEN1-202
ENSP00000350342
ENST00000357710
P49768 [Direct mapping]
Presenilin-1 Presenilin-1 NTF subunit Presenilin-1 CTF subunit Presenilin-1 CTF12
A0A0S2Z4D2 [Target identity:100%; Query identity:100%]
Presenilin
Show all
Enzymes
   Peptidases
   Aspartic-type peptidases
Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   8TM proteins predicted by MDM
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
Potential drug targets
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Nervous system diseases
   Neurodegenerative diseases
   Skin diseases
   Skin and soft tissue diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II]
GO:0000139 [Golgi membrane]
GO:0000776 [kinetochore]
GO:0002265 [astrocyte activation involved in immune response]
GO:0004175 [endopeptidase activity]
GO:0004190 [aspartic-type endopeptidase activity]
GO:0005262 [calcium channel activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005640 [nuclear outer membrane]
GO:0005654 [nucleoplasm]
GO:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0005765 [lysosomal membrane]
GO:0005768 [endosome]
GO:0005769 [early endosome]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005790 [smooth endoplasmic reticulum]
GO:0005791 [rough endoplasmic reticulum]
GO:0005794 [Golgi apparatus]
GO:0005813 [centrosome]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0005938 [cell cortex]
GO:0006508 [proteolysis]
GO:0006509 [membrane protein ectodomain proteolysis]
GO:0006816 [calcium ion transport]
GO:0006915 [apoptotic process]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0007155 [cell adhesion]
GO:0007219 [Notch signaling pathway]
GO:0007220 [Notch receptor processing]
GO:0007611 [learning or memory]
GO:0007613 [memory]
GO:0008013 [beta-catenin binding]
GO:0008233 [peptidase activity]
GO:0009986 [cell surface]
GO:0010008 [endosome membrane]
GO:0010468 [regulation of gene expression]
GO:0010628 [positive regulation of gene expression]
GO:0010629 [negative regulation of gene expression]
GO:0010975 [regulation of neuron projection development]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016235 [aggresome]
GO:0016324 [apical plasma membrane]
GO:0016485 [protein processing]
GO:0016787 [hydrolase activity]
GO:0030018 [Z disc]
GO:0030054 [cell junction]
GO:0030165 [PDZ domain binding]
GO:0030424 [axon]
GO:0030426 [growth cone]
GO:0031293 [membrane protein intracellular domain proteolysis]
GO:0031594 [neuromuscular junction]
GO:0031901 [early endosome membrane]
GO:0031965 [nuclear membrane]
GO:0032092 [positive regulation of protein binding]
GO:0032469 [endoplasmic reticulum calcium ion homeostasis]
GO:0032760 [positive regulation of tumor necrosis factor production]
GO:0032991 [protein-containing complex]
GO:0034205 [amyloid-beta formation]
GO:0035253 [ciliary rootlet]
GO:0035333 [Notch receptor processing, ligand-dependent]
GO:0035556 [intracellular signal transduction]
GO:0035577 [azurophil granule membrane]
GO:0042307 [positive regulation of protein import into nucleus]
GO:0042325 [regulation of phosphorylation]
GO:0042327 [positive regulation of phosphorylation]
GO:0042500 [aspartic endopeptidase activity, intramembrane cleaving]
GO:0042982 [amyloid precursor protein metabolic process]
GO:0042987 [amyloid precursor protein catabolic process]
GO:0042995 [cell projection]
GO:0043005 [neuron projection]
GO:0043025 [neuronal cell body]
GO:0043065 [positive regulation of apoptotic process]
GO:0043066 [negative regulation of apoptotic process]
GO:0043085 [positive regulation of catalytic activity]
GO:0043198 [dendritic shaft]
GO:0043312 [neutrophil degranulation]
GO:0045121 [membrane raft]
GO:0045202 [synapse]
GO:0045296 [cadherin binding]
GO:0045821 [positive regulation of glycolytic process]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0048013 [ephrin receptor signaling pathway]
GO:0048143 [astrocyte activation]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050435 [amyloid-beta metabolic process]
GO:0050808 [synapse organization]
GO:0051117 [ATPase binding]
GO:0051563 [smooth endoplasmic reticulum calcium ion homeostasis]
GO:0060828 [regulation of canonical Wnt signaling pathway]
GO:0060999 [positive regulation of dendritic spine development]
GO:0070588 [calcium ion transmembrane transport]
GO:0070765 [gamma-secretase complex]
GO:0070851 [growth factor receptor binding]
GO:0090647 [modulation of age-related behavioral decline]
GO:0098609 [cell-cell adhesion]
GO:1904646 [cellular response to amyloid-beta]
GO:1904797 [negative regulation of core promoter binding]
GO:1905908 [positive regulation of amyloid fibril formation]
GO:1990535 [neuron projection maintenance]
Show all
463 aa
52.2 kDa
No 8
PSEN1-203
ENSP00000377712
ENST00000394157
P49768 [Direct mapping]
Presenilin-1 Presenilin-1 NTF subunit Presenilin-1 CTF subunit Presenilin-1 CTF12
Show all
Enzymes
   Peptidases
   Aspartic-type peptidases
Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   3TM proteins predicted by MDM
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
Potential drug targets
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Nervous system diseases
   Neurodegenerative diseases
   Skin diseases
   Skin and soft tissue diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II]
GO:0000139 [Golgi membrane]
GO:0000776 [kinetochore]
GO:0002265 [astrocyte activation involved in immune response]
GO:0004175 [endopeptidase activity]
GO:0004190 [aspartic-type endopeptidase activity]
GO:0005262 [calcium channel activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005640 [nuclear outer membrane]
GO:0005654 [nucleoplasm]
GO:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0005765 [lysosomal membrane]
GO:0005768 [endosome]
GO:0005769 [early endosome]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005790 [smooth endoplasmic reticulum]
GO:0005791 [rough endoplasmic reticulum]
GO:0005794 [Golgi apparatus]
GO:0005813 [centrosome]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0005938 [cell cortex]
GO:0006508 [proteolysis]
GO:0006509 [membrane protein ectodomain proteolysis]
GO:0006816 [calcium ion transport]
GO:0006915 [apoptotic process]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0007155 [cell adhesion]
GO:0007219 [Notch signaling pathway]
GO:0007220 [Notch receptor processing]
GO:0007611 [learning or memory]
GO:0007613 [memory]
GO:0008013 [beta-catenin binding]
GO:0008233 [peptidase activity]
GO:0009986 [cell surface]
GO:0010468 [regulation of gene expression]
GO:0010628 [positive regulation of gene expression]
GO:0010629 [negative regulation of gene expression]
GO:0010975 [regulation of neuron projection development]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016235 [aggresome]
GO:0016324 [apical plasma membrane]
GO:0016485 [protein processing]
GO:0016787 [hydrolase activity]
GO:0030018 [Z disc]
GO:0030054 [cell junction]
GO:0030165 [PDZ domain binding]
GO:0030424 [axon]
GO:0030426 [growth cone]
GO:0031293 [membrane protein intracellular domain proteolysis]
GO:0031594 [neuromuscular junction]
GO:0031901 [early endosome membrane]
GO:0031965 [nuclear membrane]
GO:0032092 [positive regulation of protein binding]
GO:0032469 [endoplasmic reticulum calcium ion homeostasis]
GO:0032760 [positive regulation of tumor necrosis factor production]
GO:0032991 [protein-containing complex]
GO:0034205 [amyloid-beta formation]
GO:0035253 [ciliary rootlet]
GO:0035333 [Notch receptor processing, ligand-dependent]
GO:0035556 [intracellular signal transduction]
GO:0035577 [azurophil granule membrane]
GO:0042307 [positive regulation of protein import into nucleus]
GO:0042325 [regulation of phosphorylation]
GO:0042327 [positive regulation of phosphorylation]
GO:0042500 [aspartic endopeptidase activity, intramembrane cleaving]
GO:0042982 [amyloid precursor protein metabolic process]
GO:0042987 [amyloid precursor protein catabolic process]
GO:0042995 [cell projection]
GO:0043005 [neuron projection]
GO:0043025 [neuronal cell body]
GO:0043065 [positive regulation of apoptotic process]
GO:0043066 [negative regulation of apoptotic process]
GO:0043085 [positive regulation of catalytic activity]
GO:0043198 [dendritic shaft]
GO:0043312 [neutrophil degranulation]
GO:0045121 [membrane raft]
GO:0045202 [synapse]
GO:0045296 [cadherin binding]
GO:0045821 [positive regulation of glycolytic process]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0048013 [ephrin receptor signaling pathway]
GO:0048143 [astrocyte activation]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050435 [amyloid-beta metabolic process]
GO:0050808 [synapse organization]
GO:0051117 [ATPase binding]
GO:0051563 [smooth endoplasmic reticulum calcium ion homeostasis]
GO:0060828 [regulation of canonical Wnt signaling pathway]
GO:0060999 [positive regulation of dendritic spine development]
GO:0070588 [calcium ion transmembrane transport]
GO:0070765 [gamma-secretase complex]
GO:0070851 [growth factor receptor binding]
GO:0090647 [modulation of age-related behavioral decline]
GO:0098609 [cell-cell adhesion]
GO:1904646 [cellular response to amyloid-beta]
GO:1904797 [negative regulation of core promoter binding]
GO:1905908 [positive regulation of amyloid fibril formation]
GO:1990535 [neuron projection maintenance]
Show all
184 aa
21.1 kDa
No 3
PSEN1-204
ENSP00000377719
ENST00000394164
P49768 [Direct mapping]
Presenilin-1 Presenilin-1 NTF subunit Presenilin-1 CTF subunit Presenilin-1 CTF12
A0A0S2Z4D2 [Target identity:100%; Query identity:100%]
Presenilin
Show all
Enzymes
   Peptidases
   Aspartic-type peptidases
Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   8TM proteins predicted by MDM
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
Potential drug targets
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Nervous system diseases
   Neurodegenerative diseases
   Skin diseases
   Skin and soft tissue diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II]
GO:0000139 [Golgi membrane]
GO:0000776 [kinetochore]
GO:0002265 [astrocyte activation involved in immune response]
GO:0004175 [endopeptidase activity]
GO:0004190 [aspartic-type endopeptidase activity]
GO:0005262 [calcium channel activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005640 [nuclear outer membrane]
GO:0005654 [nucleoplasm]
GO:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0005765 [lysosomal membrane]
GO:0005768 [endosome]
GO:0005769 [early endosome]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005790 [smooth endoplasmic reticulum]
GO:0005791 [rough endoplasmic reticulum]
GO:0005794 [Golgi apparatus]
GO:0005813 [centrosome]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0005938 [cell cortex]
GO:0006508 [proteolysis]
GO:0006509 [membrane protein ectodomain proteolysis]
GO:0006816 [calcium ion transport]
GO:0006915 [apoptotic process]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0007155 [cell adhesion]
GO:0007219 [Notch signaling pathway]
GO:0007220 [Notch receptor processing]
GO:0007611 [learning or memory]
GO:0007613 [memory]
GO:0008013 [beta-catenin binding]
GO:0008233 [peptidase activity]
GO:0009986 [cell surface]
GO:0010008 [endosome membrane]
GO:0010468 [regulation of gene expression]
GO:0010628 [positive regulation of gene expression]
GO:0010629 [negative regulation of gene expression]
GO:0010975 [regulation of neuron projection development]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016235 [aggresome]
GO:0016324 [apical plasma membrane]
GO:0016485 [protein processing]
GO:0016787 [hydrolase activity]
GO:0030018 [Z disc]
GO:0030054 [cell junction]
GO:0030165 [PDZ domain binding]
GO:0030424 [axon]
GO:0030426 [growth cone]
GO:0031293 [membrane protein intracellular domain proteolysis]
GO:0031594 [neuromuscular junction]
GO:0031901 [early endosome membrane]
GO:0031965 [nuclear membrane]
GO:0032092 [positive regulation of protein binding]
GO:0032469 [endoplasmic reticulum calcium ion homeostasis]
GO:0032760 [positive regulation of tumor necrosis factor production]
GO:0032991 [protein-containing complex]
GO:0034205 [amyloid-beta formation]
GO:0035253 [ciliary rootlet]
GO:0035333 [Notch receptor processing, ligand-dependent]
GO:0035556 [intracellular signal transduction]
GO:0035577 [azurophil granule membrane]
GO:0042307 [positive regulation of protein import into nucleus]
GO:0042325 [regulation of phosphorylation]
GO:0042327 [positive regulation of phosphorylation]
GO:0042500 [aspartic endopeptidase activity, intramembrane cleaving]
GO:0042982 [amyloid precursor protein metabolic process]
GO:0042987 [amyloid precursor protein catabolic process]
GO:0042995 [cell projection]
GO:0043005 [neuron projection]
GO:0043025 [neuronal cell body]
GO:0043065 [positive regulation of apoptotic process]
GO:0043066 [negative regulation of apoptotic process]
GO:0043085 [positive regulation of catalytic activity]
GO:0043198 [dendritic shaft]
GO:0043312 [neutrophil degranulation]
GO:0045121 [membrane raft]
GO:0045202 [synapse]
GO:0045296 [cadherin binding]
GO:0045821 [positive regulation of glycolytic process]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0048013 [ephrin receptor signaling pathway]
GO:0048143 [astrocyte activation]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050435 [amyloid-beta metabolic process]
GO:0050808 [synapse organization]
GO:0051117 [ATPase binding]
GO:0051563 [smooth endoplasmic reticulum calcium ion homeostasis]
GO:0060828 [regulation of canonical Wnt signaling pathway]
GO:0060999 [positive regulation of dendritic spine development]
GO:0070588 [calcium ion transmembrane transport]
GO:0070765 [gamma-secretase complex]
GO:0070851 [growth factor receptor binding]
GO:0090647 [modulation of age-related behavioral decline]
GO:0098609 [cell-cell adhesion]
GO:1904646 [cellular response to amyloid-beta]
GO:1904797 [negative regulation of core promoter binding]
GO:1905908 [positive regulation of amyloid fibril formation]
GO:1990535 [neuron projection maintenance]
Show all
463 aa
52.2 kDa
No 8
PSEN1-205
ENSP00000385948
ENST00000406768
E7ES96 [Direct mapping]
Presenilin
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   7TM proteins predicted by MDM
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Nervous system diseases
   Neurodegenerative diseases
   Skin diseases
   Skin and soft tissue diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139 [Golgi membrane]
GO:0004190 [aspartic-type endopeptidase activity]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005794 [Golgi apparatus]
GO:0006508 [proteolysis]
GO:0007219 [Notch signaling pathway]
GO:0008233 [peptidase activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016485 [protein processing]
GO:0016787 [hydrolase activity]
Show all
375 aa
42.1 kDa
No 7
PSEN1-207
ENSP00000452477
ENST00000553599
G3V2B1 [Direct mapping]
Presenilin-1 CTF12
Show all
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Nervous system diseases
   Neurodegenerative diseases
   Skin diseases
   Skin and soft tissue diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004190 [aspartic-type endopeptidase activity]
GO:0005654 [nucleoplasm]
GO:0005794 [Golgi apparatus]
GO:0010008 [endosome membrane]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016485 [protein processing]
GO:0030054 [cell junction]
GO:0031901 [early endosome membrane]
GO:0035556 [intracellular signal transduction]
GO:0042500 [aspartic endopeptidase activity, intramembrane cleaving]
GO:0042987 [amyloid precursor protein catabolic process]
Show all
91 aa
10.5 kDa
No 0
PSEN1-208
ENSP00000451674
ENST00000553719
G3V499 [Direct mapping]
Presenilin-1 CTF12
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Nervous system diseases
   Neurodegenerative diseases
   Skin diseases
   Skin and soft tissue diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004190 [aspartic-type endopeptidase activity]
GO:0005654 [nucleoplasm]
GO:0005794 [Golgi apparatus]
GO:0010008 [endosome membrane]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016485 [protein processing]
GO:0030054 [cell junction]
GO:0031901 [early endosome membrane]
GO:0035556 [intracellular signal transduction]
GO:0042500 [aspartic endopeptidase activity, intramembrane cleaving]
GO:0042987 [amyloid precursor protein catabolic process]
Show all
147 aa
16.6 kDa
No 2
PSEN1-210
ENSP00000451915
ENST00000554131
G3V4P4 [Direct mapping]
Presenilin-1 CTF12
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Nervous system diseases
   Neurodegenerative diseases
   Skin diseases
   Skin and soft tissue diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004190 [aspartic-type endopeptidase activity]
GO:0005654 [nucleoplasm]
GO:0005794 [Golgi apparatus]
GO:0010008 [endosome membrane]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016485 [protein processing]
GO:0030054 [cell junction]
GO:0031901 [early endosome membrane]
GO:0035556 [intracellular signal transduction]
GO:0042500 [aspartic endopeptidase activity, intramembrane cleaving]
GO:0042987 [amyloid precursor protein catabolic process]
Show all
109 aa
12.5 kDa
No 1
PSEN1-212
ENSP00000450652
ENST00000555254
G3V2G7 [Direct mapping]
Presenilin-1 CTF12
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Nervous system diseases
   Neurodegenerative diseases
   Skin diseases
   Skin and soft tissue diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004190 [aspartic-type endopeptidase activity]
GO:0005654 [nucleoplasm]
GO:0005794 [Golgi apparatus]
GO:0010008 [endosome membrane]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016485 [protein processing]
GO:0030054 [cell junction]
GO:0031901 [early endosome membrane]
GO:0035556 [intracellular signal transduction]
GO:0042500 [aspartic endopeptidase activity, intramembrane cleaving]
GO:0042987 [amyloid precursor protein catabolic process]
Show all
155 aa
17.6 kDa
No 2
PSEN1-215
ENSP00000451662
ENST00000556011
G3V490 [Direct mapping]
Presenilin-1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Nervous system diseases
   Neurodegenerative diseases
   Skin diseases
   Skin and soft tissue diseases
Protein evidence (Ezkurdia et al 2014)
Show all
42 aa
4.8 kDa
No 0
PSEN1-216
ENSP00000452267
ENST00000556066
G3V5B1 [Direct mapping]
Presenilin-1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Nervous system diseases
   Neurodegenerative diseases
   Skin diseases
   Skin and soft tissue diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005654 [nucleoplasm]
GO:0005794 [Golgi apparatus]
GO:0006508 [proteolysis]
GO:0016020 [membrane]
GO:0030054 [cell junction]
GO:0035556 [intracellular signal transduction]
GO:0042500 [aspartic endopeptidase activity, intramembrane cleaving]
GO:0042987 [amyloid precursor protein catabolic process]
Show all
58 aa
6.7 kDa
No 0
PSEN1-217
ENSP00000452128
ENST00000556533
G3V519 [Direct mapping]
Presenilin-1 CTF12
Show all
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Nervous system diseases
   Neurodegenerative diseases
   Skin diseases
   Skin and soft tissue diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004190 [aspartic-type endopeptidase activity]
GO:0005654 [nucleoplasm]
GO:0005794 [Golgi apparatus]
GO:0010008 [endosome membrane]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016485 [protein processing]
GO:0030054 [cell junction]
GO:0031901 [early endosome membrane]
GO:0035556 [intracellular signal transduction]
GO:0042500 [aspartic endopeptidase activity, intramembrane cleaving]
GO:0042987 [amyloid precursor protein catabolic process]
Show all
92 aa
10.6 kDa
No 0
PSEN1-218
ENSP00000451588
ENST00000556864
G3V449 [Direct mapping]
Presenilin-1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Nervous system diseases
   Neurodegenerative diseases
   Skin diseases
   Skin and soft tissue diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005654 [nucleoplasm]
GO:0005794 [Golgi apparatus]
GO:0006508 [proteolysis]
GO:0016020 [membrane]
GO:0030054 [cell junction]
GO:0035556 [intracellular signal transduction]
GO:0042500 [aspartic endopeptidase activity, intramembrane cleaving]
GO:0042987 [amyloid precursor protein catabolic process]
Show all
63 aa
7.3 kDa
No 0
PSEN1-219
ENSP00000450551
ENST00000556951
G3V2B1 [Direct mapping]
Presenilin-1 CTF12
Show all
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Nervous system diseases
   Neurodegenerative diseases
   Skin diseases
   Skin and soft tissue diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004190 [aspartic-type endopeptidase activity]
GO:0005654 [nucleoplasm]
GO:0005794 [Golgi apparatus]
GO:0010008 [endosome membrane]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016485 [protein processing]
GO:0030054 [cell junction]
GO:0031901 [early endosome membrane]
GO:0035556 [intracellular signal transduction]
GO:0042500 [aspartic endopeptidase activity, intramembrane cleaving]
GO:0042987 [amyloid precursor protein catabolic process]
Show all
91 aa
10.5 kDa
No 0
PSEN1-220
ENSP00000451347
ENST00000557037
G3V3P0 [Direct mapping]
Presenilin-1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Nervous system diseases
   Neurodegenerative diseases
   Skin diseases
   Skin and soft tissue diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005654 [nucleoplasm]
GO:0005794 [Golgi apparatus]
GO:0006508 [proteolysis]
GO:0016020 [membrane]
GO:0030054 [cell junction]
GO:0035556 [intracellular signal transduction]
GO:0042500 [aspartic endopeptidase activity, intramembrane cleaving]
GO:0042987 [amyloid precursor protein catabolic process]
Show all
62 aa
7.1 kDa
No 0
PSEN1-221
ENSP00000451880
ENST00000557293
G3V4M0 [Direct mapping]
Presenilin-1 CTF12
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Nervous system diseases
   Neurodegenerative diseases
   Skin diseases
   Skin and soft tissue diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004190 [aspartic-type endopeptidase activity]
GO:0005654 [nucleoplasm]
GO:0005794 [Golgi apparatus]
GO:0010008 [endosome membrane]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016485 [protein processing]
GO:0030054 [cell junction]
GO:0031901 [early endosome membrane]
GO:0035556 [intracellular signal transduction]
GO:0042500 [aspartic endopeptidase activity, intramembrane cleaving]
GO:0042987 [amyloid precursor protein catabolic process]
Show all
99 aa
11.3 kDa
No 1
PSEN1-222
ENSP00000451498
ENST00000557356
G3V3Z0 [Direct mapping]
Presenilin-1 CTF12
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Nervous system diseases
   Neurodegenerative diseases
   Skin diseases
   Skin and soft tissue diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004190 [aspartic-type endopeptidase activity]
GO:0005654 [nucleoplasm]
GO:0005794 [Golgi apparatus]
GO:0010008 [endosome membrane]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016485 [protein processing]
GO:0030054 [cell junction]
GO:0031901 [early endosome membrane]
GO:0035556 [intracellular signal transduction]
GO:0042500 [aspartic endopeptidase activity, intramembrane cleaving]
GO:0042987 [amyloid precursor protein catabolic process]
Show all
135 aa
15.3 kDa
No 1
PSEN1-223
ENSP00000451429
ENST00000557511
P49768 [Direct mapping]
Presenilin-1 Presenilin-1 NTF subunit Presenilin-1 CTF subunit Presenilin-1 CTF12
Show all
Enzymes
   Peptidases
   Aspartic-type peptidases
Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   8TM proteins predicted by MDM
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
Potential drug targets
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Nervous system diseases
   Neurodegenerative diseases
   Skin diseases
   Skin and soft tissue diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II]
GO:0000139 [Golgi membrane]
GO:0000776 [kinetochore]
GO:0002265 [astrocyte activation involved in immune response]
GO:0004175 [endopeptidase activity]
GO:0004190 [aspartic-type endopeptidase activity]
GO:0005262 [calcium channel activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005640 [nuclear outer membrane]
GO:0005654 [nucleoplasm]
GO:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0005765 [lysosomal membrane]
GO:0005768 [endosome]
GO:0005769 [early endosome]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005790 [smooth endoplasmic reticulum]
GO:0005791 [rough endoplasmic reticulum]
GO:0005794 [Golgi apparatus]
GO:0005813 [centrosome]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0005938 [cell cortex]
GO:0006508 [proteolysis]
GO:0006509 [membrane protein ectodomain proteolysis]
GO:0006816 [calcium ion transport]
GO:0006915 [apoptotic process]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0007155 [cell adhesion]
GO:0007219 [Notch signaling pathway]
GO:0007220 [Notch receptor processing]
GO:0007611 [learning or memory]
GO:0007613 [memory]
GO:0008013 [beta-catenin binding]
GO:0008233 [peptidase activity]
GO:0009986 [cell surface]
GO:0010468 [regulation of gene expression]
GO:0010628 [positive regulation of gene expression]
GO:0010629 [negative regulation of gene expression]
GO:0010975 [regulation of neuron projection development]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016235 [aggresome]
GO:0016324 [apical plasma membrane]
GO:0016485 [protein processing]
GO:0016787 [hydrolase activity]
GO:0030018 [Z disc]
GO:0030054 [cell junction]
GO:0030165 [PDZ domain binding]
GO:0030424 [axon]
GO:0030426 [growth cone]
GO:0031293 [membrane protein intracellular domain proteolysis]
GO:0031594 [neuromuscular junction]
GO:0031901 [early endosome membrane]
GO:0031965 [nuclear membrane]
GO:0032092 [positive regulation of protein binding]
GO:0032469 [endoplasmic reticulum calcium ion homeostasis]
GO:0032760 [positive regulation of tumor necrosis factor production]
GO:0032991 [protein-containing complex]
GO:0034205 [amyloid-beta formation]
GO:0035253 [ciliary rootlet]
GO:0035333 [Notch receptor processing, ligand-dependent]
GO:0035556 [intracellular signal transduction]
GO:0035577 [azurophil granule membrane]
GO:0042307 [positive regulation of protein import into nucleus]
GO:0042325 [regulation of phosphorylation]
GO:0042327 [positive regulation of phosphorylation]
GO:0042500 [aspartic endopeptidase activity, intramembrane cleaving]
GO:0042982 [amyloid precursor protein metabolic process]
GO:0042987 [amyloid precursor protein catabolic process]
GO:0042995 [cell projection]
GO:0043005 [neuron projection]
GO:0043025 [neuronal cell body]
GO:0043065 [positive regulation of apoptotic process]
GO:0043066 [negative regulation of apoptotic process]
GO:0043085 [positive regulation of catalytic activity]
GO:0043198 [dendritic shaft]
GO:0043312 [neutrophil degranulation]
GO:0045121 [membrane raft]
GO:0045202 [synapse]
GO:0045296 [cadherin binding]
GO:0045821 [positive regulation of glycolytic process]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0048013 [ephrin receptor signaling pathway]
GO:0048143 [astrocyte activation]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050435 [amyloid-beta metabolic process]
GO:0050808 [synapse organization]
GO:0051117 [ATPase binding]
GO:0051563 [smooth endoplasmic reticulum calcium ion homeostasis]
GO:0060828 [regulation of canonical Wnt signaling pathway]
GO:0060999 [positive regulation of dendritic spine development]
GO:0070588 [calcium ion transmembrane transport]
GO:0070765 [gamma-secretase complex]
GO:0070851 [growth factor receptor binding]
GO:0090647 [modulation of age-related behavioral decline]
GO:0098609 [cell-cell adhesion]
GO:1904646 [cellular response to amyloid-beta]
GO:1904797 [negative regulation of core promoter binding]
GO:1905908 [positive regulation of amyloid fibril formation]
GO:1990535 [neuron projection maintenance]
Show all
409 aa
46.3 kDa
No 8
PSEN1-225
ENSP00000453466
ENST00000560005
H0YM52 [Direct mapping]
Presenilin-1 CTF12
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Nervous system diseases
   Neurodegenerative diseases
   Skin diseases
   Skin and soft tissue diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004190 [aspartic-type endopeptidase activity]
GO:0005654 [nucleoplasm]
GO:0005794 [Golgi apparatus]
GO:0010008 [endosome membrane]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016485 [protein processing]
GO:0030054 [cell junction]
GO:0031901 [early endosome membrane]
GO:0035556 [intracellular signal transduction]
GO:0042500 [aspartic endopeptidase activity, intramembrane cleaving]
GO:0042987 [amyloid precursor protein catabolic process]
Show all
109 aa
12.5 kDa
No 1

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