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Field

Term
Gene name

Class

Subclass

Chromosome

External id

In atlas

Reliability

Reliability

Reliability

Validation

Method

Validation

Method

Validation

Method

Validation

Location

Searches

Tissue

Cell type

Expression

Tissue

Specificity

Cell line

Specificity

Tissue

Detectable

Cell line

Detectable

Category

Score

Score

Score

Antibodies

Column

 
 
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PSEN1
  • TISSUE

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TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation


Dictionary


Tissue proteome

GENERAL INFORMATION

Gene name

PSEN1

Gene description

Presenilin 1

Protein class

Cancer-related genes
Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Transporters

Predicted localization

Intracellular,Membrane

Number of transcripts

19
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

Evidence at protein level

Protein expression

Granular cytoplasmic expression in most tissues.

DATA RELIABILITY

Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Reliability score

Approved based on 2 antibodies.
HPA030760 , CAB006844
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM) Protein expression (score)
Brain
Cerebral cortex
Hippocampus
N/A
Caudate
N/A
Cerebellum
N/A
Endocrine tissues
Thyroid gland
Parathyroid gland
Adrenal gland
Bone marrow & immune system
Appendix
Bone marrow
Lymph node
Tonsil
Spleen
Muscle tissues
Heart muscle
Skeletal muscle
Smooth muscle
Lung
Nasopharynx
N/A
Bronchus
N/A
Lung
Liver & gallbladder
Liver
Gallbladder
Pancreas
Pancreas
Gastrointestinal tract
Oral mucosa
N/A
Salivary gland
Esophagus
Stomach
Duodenum
Small intestine
Colon
Rectum
Kidney & urinary bladder
Kidney
Urinary bladder
Male tissues
Testis
Epididymis
Prostate
Seminal vesicle
Female tissues
Breast
Vagina
N/A
Cervix, uterine
Endometrium
Fallopian tube
Ovary
Placenta
Adipose & soft tissue
Adipose tissue
Soft tissue
N/A
Skin
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW

Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW

HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

PSEN1 (HGNC Symbol)

Synonyms

AD3, FAD, PS1, S182

Description

Presenilin 1 (HGNC Symbol)

Entrez gene summary

Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008]

Chromosome

14

Cytoband

q24.2

Chromosome location (bp)

73136418 - 73223691

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000080815 (version 83.38)

Entrez gene

5663

UniProt

P49768 (UniProt - Evidence at protein level)

neXtProt

NX_P49768

Antibodypedia

PSEN1 antibodies

PROTEIN BROWSER

«
PSEN1-001
PSEN1-002
PSEN1-003
PSEN1-004
PSEN1-005
PSEN1-007
PSEN1-008
PSEN1-009
PSEN1-011
PSEN1-012
PSEN1-013
PSEN1-014
PSEN1-015
PSEN1-016
PSEN1-020
PSEN1-021
PSEN1-026
PSEN1-027
PSEN1-028
»

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PSEN1-001
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
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000045 [autophagosome assembly]
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
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:0002244 [hematopoietic progenitor cell differentiation]
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:0005622 [intracellular]
GO:0005634 [nucleus]
GO:0005640 [nuclear outer membrane]
GO:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0005765 [lysosomal membrane]
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:0006509 [membrane protein ectodomain proteolysis]
GO:0006839 [mitochondrial transport]
GO:0006874 [cellular calcium ion homeostasis]
GO:0006914 [autophagy]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0006979 [response to oxidative stress]
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:0008233 [peptidase activity]
GO:0009791 [post-embryonic development]
GO:0009986 [cell surface]
GO:0015031 [protein transport]
GO:0015813 [L-glutamate 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:0016337 [single organismal cell-cell adhesion]
GO:0016485 [protein processing]
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:0022617 [extracellular matrix disassembly]
GO:0030018 [Z disc]
GO:0030165 [PDZ domain binding]
GO:0030182 [neuron differentiation]
GO:0030198 [extracellular matrix organization]
GO:0030326 [embryonic limb morphogenesis]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
GO:0030900 [forebrain development]
GO:0031410 [cytoplasmic vesicle]
GO:0031594 [neuromuscular junction]
GO:0031965 [nuclear membrane]
GO:0032436 [positive regulation of proteasomal ubiquitin-dependent protein catabolic process]
GO:0032469 [endoplasmic reticulum calcium ion homeostasis]
GO:0034205 [beta-amyloid formation]
GO:0035253 [ciliary rootlet]
GO:0035282 [segmentation]
GO:0035556 [intracellular signal transduction]
GO:0040011 [locomotion]
GO:0042325 [regulation of phosphorylation]
GO:0042987 [amyloid precursor protein catabolic process]
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:0043234 [protein complex]
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:0045296 [cadherin binding]
GO:0045860 [positive regulation of protein kinase activity]
GO:0045893 [positive regulation of transcription, DNA-templated]
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 [beta-amyloid metabolic process]
GO:0050673 [epithelial cell proliferation]
GO:0050771 [negative regulation of axonogenesis]
GO:0050820 [positive regulation of coagulation]
GO:0050852 [T cell receptor signaling pathway]
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:0060070 [canonical Wnt signaling pathway]
GO:0060075 [regulation of resting membrane potential]
GO:0060999 [positive regulation of dendritic spine development]
GO:0070588 [calcium ion transmembrane transport]
GO:0070765 [gamma-secretase complex]
GO:2000059 [negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process]
GO:2001234 [negative regulation of apoptotic signaling pathway]
Show all
467 aa
52.7 kDa
No 8
PSEN1-002
ENSP00000350342
ENST00000357710
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
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139 [Golgi membrane]
GO:0000776 [kinetochore]
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:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0005765 [lysosomal membrane]
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:0006509 [membrane protein ectodomain proteolysis]
GO:0007220 [Notch receptor processing]
GO:0008013 [beta-catenin binding]
GO:0009986 [cell surface]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016235 [aggresome]
GO:0016324 [apical plasma membrane]
GO:0016337 [single organismal cell-cell adhesion]
GO:0016485 [protein processing]
GO:0022617 [extracellular matrix disassembly]
GO:0030018 [Z disc]
GO:0030165 [PDZ domain binding]
GO:0030198 [extracellular matrix organization]
GO:0030424 [axon]
GO:0030426 [growth cone]
GO:0031594 [neuromuscular junction]
GO:0031965 [nuclear membrane]
GO:0032469 [endoplasmic reticulum calcium ion homeostasis]
GO:0035253 [ciliary rootlet]
GO:0035556 [intracellular signal transduction]
GO:0042325 [regulation of phosphorylation]
GO:0042987 [amyloid precursor protein catabolic process]
GO:0043025 [neuronal cell body]
GO:0043066 [negative regulation of apoptotic process]
GO:0043085 [positive regulation of catalytic activity]
GO:0043198 [dendritic shaft]
GO:0045121 [membrane raft]
GO:0045296 [cadherin binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050435 [beta-amyloid metabolic process]
GO:0051563 [smooth endoplasmic reticulum calcium ion homeostasis]
GO:0060070 [canonical Wnt signaling pathway]
GO:0060999 [positive regulation of dendritic spine development]
GO:0070588 [calcium ion transmembrane transport]
GO:0070765 [gamma-secretase complex]
Show all
463 aa
52.2 kDa
No 8
PSEN1-003
ENSP00000377719
ENST00000394164
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
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139 [Golgi membrane]
GO:0000776 [kinetochore]
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:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0005765 [lysosomal membrane]
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:0006509 [membrane protein ectodomain proteolysis]
GO:0007220 [Notch receptor processing]
GO:0008013 [beta-catenin binding]
GO:0009986 [cell surface]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016235 [aggresome]
GO:0016324 [apical plasma membrane]
GO:0016337 [single organismal cell-cell adhesion]
GO:0016485 [protein processing]
GO:0022617 [extracellular matrix disassembly]
GO:0030018 [Z disc]
GO:0030165 [PDZ domain binding]
GO:0030198 [extracellular matrix organization]
GO:0030424 [axon]
GO:0030426 [growth cone]
GO:0031594 [neuromuscular junction]
GO:0031965 [nuclear membrane]
GO:0032469 [endoplasmic reticulum calcium ion homeostasis]
GO:0035253 [ciliary rootlet]
GO:0035556 [intracellular signal transduction]
GO:0042325 [regulation of phosphorylation]
GO:0042987 [amyloid precursor protein catabolic process]
GO:0043025 [neuronal cell body]
GO:0043066 [negative regulation of apoptotic process]
GO:0043085 [positive regulation of catalytic activity]
GO:0043198 [dendritic shaft]
GO:0045121 [membrane raft]
GO:0045296 [cadherin binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050435 [beta-amyloid metabolic process]
GO:0051563 [smooth endoplasmic reticulum calcium ion homeostasis]
GO:0060070 [canonical Wnt signaling pathway]
GO:0060999 [positive regulation of dendritic spine development]
GO:0070588 [calcium ion transmembrane transport]
GO:0070765 [gamma-secretase complex]
Show all
463 aa
52.2 kDa
No 8
PSEN1-004
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
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139 [Golgi membrane]
GO:0000776 [kinetochore]
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:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0005765 [lysosomal membrane]
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:0006509 [membrane protein ectodomain proteolysis]
GO:0007220 [Notch receptor processing]
GO:0008013 [beta-catenin binding]
GO:0009986 [cell surface]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016235 [aggresome]
GO:0016324 [apical plasma membrane]
GO:0016337 [single organismal cell-cell adhesion]
GO:0016485 [protein processing]
GO:0022617 [extracellular matrix disassembly]
GO:0030018 [Z disc]
GO:0030165 [PDZ domain binding]
GO:0030198 [extracellular matrix organization]
GO:0030424 [axon]
GO:0030426 [growth cone]
GO:0031594 [neuromuscular junction]
GO:0031965 [nuclear membrane]
GO:0032469 [endoplasmic reticulum calcium ion homeostasis]
GO:0035253 [ciliary rootlet]
GO:0035556 [intracellular signal transduction]
GO:0042325 [regulation of phosphorylation]
GO:0042987 [amyloid precursor protein catabolic process]
GO:0043025 [neuronal cell body]
GO:0043066 [negative regulation of apoptotic process]
GO:0043085 [positive regulation of catalytic activity]
GO:0043198 [dendritic shaft]
GO:0045121 [membrane raft]
GO:0045296 [cadherin binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050435 [beta-amyloid metabolic process]
GO:0051563 [smooth endoplasmic reticulum calcium ion homeostasis]
GO:0060070 [canonical Wnt signaling pathway]
GO:0060999 [positive regulation of dendritic spine development]
GO:0070588 [calcium ion transmembrane transport]
GO:0070765 [gamma-secretase complex]
Show all
184 aa
21.1 kDa
No 3
PSEN1-005
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
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139 [Golgi membrane]
GO:0004190 [aspartic-type endopeptidase activity]
GO:0005634 [nucleus]
GO:0005743 [mitochondrial inner membrane]
GO:0005765 [lysosomal membrane]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005790 [smooth endoplasmic reticulum]
GO:0005938 [cell cortex]
GO:0006508 [proteolysis]
GO:0007219 [Notch signaling pathway]
GO:0009986 [cell surface]
GO:0016021 [integral component of membrane]
GO:0016324 [apical plasma membrane]
GO:0030018 [Z disc]
GO:0030424 [axon]
GO:0030426 [growth cone]
GO:0031594 [neuromuscular junction]
GO:0035253 [ciliary rootlet]
GO:0043025 [neuronal cell body]
GO:0043198 [dendritic shaft]
GO:0045296 [cadherin binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050435 [beta-amyloid metabolic process]
GO:0051563 [smooth endoplasmic reticulum calcium ion homeostasis]
GO:0060070 [canonical Wnt signaling pathway]
Show all
375 aa
42.1 kDa
No 7
PSEN1-007
ENSP00000451588
ENST00000556864
G3V449 [Direct mapping]
Presenilin-1
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004190 [aspartic-type endopeptidase activity]
GO:0005634 [nucleus]
GO:0005743 [mitochondrial inner membrane]
GO:0005765 [lysosomal membrane]
GO:0005790 [smooth endoplasmic reticulum]
GO:0005938 [cell cortex]
GO:0006508 [proteolysis]
GO:0009986 [cell surface]
GO:0016021 [integral component of membrane]
GO:0016324 [apical plasma membrane]
GO:0030018 [Z disc]
GO:0030424 [axon]
GO:0030426 [growth cone]
GO:0031594 [neuromuscular junction]
GO:0035253 [ciliary rootlet]
GO:0035556 [intracellular signal transduction]
GO:0043025 [neuronal cell body]
GO:0043198 [dendritic shaft]
GO:0045296 [cadherin binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050435 [beta-amyloid metabolic process]
GO:0051563 [smooth endoplasmic reticulum calcium ion homeostasis]
GO:0060070 [canonical Wnt signaling pathway]
Show all
63 aa
7.3 kDa
No 0
PSEN1-008
ENSP00000451347
ENST00000557037
G3V3P0 [Direct mapping]
Presenilin-1
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004190 [aspartic-type endopeptidase activity]
GO:0005634 [nucleus]
GO:0005743 [mitochondrial inner membrane]
GO:0005765 [lysosomal membrane]
GO:0005790 [smooth endoplasmic reticulum]
GO:0005938 [cell cortex]
GO:0006508 [proteolysis]
GO:0009986 [cell surface]
GO:0016021 [integral component of membrane]
GO:0016324 [apical plasma membrane]
GO:0030018 [Z disc]
GO:0030424 [axon]
GO:0030426 [growth cone]
GO:0031594 [neuromuscular junction]
GO:0035253 [ciliary rootlet]
GO:0035556 [intracellular signal transduction]
GO:0043025 [neuronal cell body]
GO:0043198 [dendritic shaft]
GO:0045296 [cadherin binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050435 [beta-amyloid metabolic process]
GO:0051563 [smooth endoplasmic reticulum calcium ion homeostasis]
GO:0060070 [canonical Wnt signaling pathway]
Show all
62 aa
7.1 kDa
No 0
PSEN1-009
ENSP00000452128
ENST00000556533
G3V519 [Direct mapping]
Presenilin-1
Show all
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004190 [aspartic-type endopeptidase activity]
GO:0005634 [nucleus]
GO:0005743 [mitochondrial inner membrane]
GO:0005765 [lysosomal membrane]
GO:0005790 [smooth endoplasmic reticulum]
GO:0005938 [cell cortex]
GO:0006508 [proteolysis]
GO:0009986 [cell surface]
GO:0016021 [integral component of membrane]
GO:0016324 [apical plasma membrane]
GO:0030018 [Z disc]
GO:0030424 [axon]
GO:0030426 [growth cone]
GO:0031594 [neuromuscular junction]
GO:0035253 [ciliary rootlet]
GO:0035556 [intracellular signal transduction]
GO:0043025 [neuronal cell body]
GO:0043198 [dendritic shaft]
GO:0045296 [cadherin binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050435 [beta-amyloid metabolic process]
GO:0051563 [smooth endoplasmic reticulum calcium ion homeostasis]
GO:0060070 [canonical Wnt signaling pathway]
Show all
92 aa
10.6 kDa
No 0
PSEN1-011
ENSP00000452267
ENST00000556066
G3V5B1 [Direct mapping]
Presenilin-1
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005634 [nucleus]
GO:0005743 [mitochondrial inner membrane]
GO:0005765 [lysosomal membrane]
GO:0005790 [smooth endoplasmic reticulum]
GO:0005938 [cell cortex]
GO:0009986 [cell surface]
GO:0016324 [apical plasma membrane]
GO:0030018 [Z disc]
GO:0030424 [axon]
GO:0030426 [growth cone]
GO:0031594 [neuromuscular junction]
GO:0035253 [ciliary rootlet]
GO:0035556 [intracellular signal transduction]
GO:0043025 [neuronal cell body]
GO:0043198 [dendritic shaft]
GO:0045296 [cadherin binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050435 [beta-amyloid metabolic process]
GO:0051563 [smooth endoplasmic reticulum calcium ion homeostasis]
GO:0060070 [canonical Wnt signaling pathway]
Show all
58 aa
6.7 kDa
No 0
PSEN1-012
ENSP00000452477
ENST00000553599
G3V519 [Direct mapping]
Presenilin-1
Show all
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004190 [aspartic-type endopeptidase activity]
GO:0005634 [nucleus]
GO:0005743 [mitochondrial inner membrane]
GO:0005765 [lysosomal membrane]
GO:0005790 [smooth endoplasmic reticulum]
GO:0005938 [cell cortex]
GO:0006508 [proteolysis]
GO:0009986 [cell surface]
GO:0016021 [integral component of membrane]
GO:0016324 [apical plasma membrane]
GO:0030018 [Z disc]
GO:0030424 [axon]
GO:0030426 [growth cone]
GO:0031594 [neuromuscular junction]
GO:0035253 [ciliary rootlet]
GO:0035556 [intracellular signal transduction]
GO:0043025 [neuronal cell body]
GO:0043198 [dendritic shaft]
GO:0045296 [cadherin binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050435 [beta-amyloid metabolic process]
GO:0051563 [smooth endoplasmic reticulum calcium ion homeostasis]
GO:0060070 [canonical Wnt signaling pathway]
Show all
92 aa
10.6 kDa
No 0
PSEN1-013
ENSP00000451498
ENST00000557356
G3V3Z0 [Direct mapping]
Presenilin-1
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
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004190 [aspartic-type endopeptidase activity]
GO:0005634 [nucleus]
GO:0005743 [mitochondrial inner membrane]
GO:0005765 [lysosomal membrane]
GO:0005790 [smooth endoplasmic reticulum]
GO:0005938 [cell cortex]
GO:0006508 [proteolysis]
GO:0009986 [cell surface]
GO:0016021 [integral component of membrane]
GO:0016324 [apical plasma membrane]
GO:0030018 [Z disc]
GO:0030424 [axon]
GO:0030426 [growth cone]
GO:0031594 [neuromuscular junction]
GO:0035253 [ciliary rootlet]
GO:0035556 [intracellular signal transduction]
GO:0043025 [neuronal cell body]
GO:0043198 [dendritic shaft]
GO:0045296 [cadherin binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050435 [beta-amyloid metabolic process]
GO:0051563 [smooth endoplasmic reticulum calcium ion homeostasis]
GO:0060070 [canonical Wnt signaling pathway]
Show all
135 aa
15.3 kDa
No 1
PSEN1-014
ENSP00000450551
ENST00000556951
G3V2B1 [Direct mapping]
Presenilin-1
Show all
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004190 [aspartic-type endopeptidase activity]
GO:0005634 [nucleus]
GO:0005743 [mitochondrial inner membrane]
GO:0005765 [lysosomal membrane]
GO:0005790 [smooth endoplasmic reticulum]
GO:0005938 [cell cortex]
GO:0006508 [proteolysis]
GO:0009986 [cell surface]
GO:0016021 [integral component of membrane]
GO:0016324 [apical plasma membrane]
GO:0030018 [Z disc]
GO:0030424 [axon]
GO:0030426 [growth cone]
GO:0031594 [neuromuscular junction]
GO:0035253 [ciliary rootlet]
GO:0035556 [intracellular signal transduction]
GO:0043025 [neuronal cell body]
GO:0043198 [dendritic shaft]
GO:0045296 [cadherin binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050435 [beta-amyloid metabolic process]
GO:0051563 [smooth endoplasmic reticulum calcium ion homeostasis]
GO:0060070 [canonical Wnt signaling pathway]
Show all
91 aa
10.5 kDa
No 0
PSEN1-015
ENSP00000451880
ENST00000557293
G3V4M0 [Direct mapping]
Presenilin-1
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
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004190 [aspartic-type endopeptidase activity]
GO:0005634 [nucleus]
GO:0005743 [mitochondrial inner membrane]
GO:0005765 [lysosomal membrane]
GO:0005790 [smooth endoplasmic reticulum]
GO:0005938 [cell cortex]
GO:0006508 [proteolysis]
GO:0009986 [cell surface]
GO:0016021 [integral component of membrane]
GO:0016324 [apical plasma membrane]
GO:0030018 [Z disc]
GO:0030424 [axon]
GO:0030426 [growth cone]
GO:0031594 [neuromuscular junction]
GO:0035253 [ciliary rootlet]
GO:0035556 [intracellular signal transduction]
GO:0043025 [neuronal cell body]
GO:0043198 [dendritic shaft]
GO:0045296 [cadherin binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050435 [beta-amyloid metabolic process]
GO:0051563 [smooth endoplasmic reticulum calcium ion homeostasis]
GO:0060070 [canonical Wnt signaling pathway]
Show all
99 aa
11.3 kDa
No 1
PSEN1-016
ENSP00000451674
ENST00000553719
G3V499 [Direct mapping]
Presenilin-1
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
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004190 [aspartic-type endopeptidase activity]
GO:0005634 [nucleus]
GO:0005743 [mitochondrial inner membrane]
GO:0005765 [lysosomal membrane]
GO:0005790 [smooth endoplasmic reticulum]
GO:0005938 [cell cortex]
GO:0006508 [proteolysis]
GO:0009986 [cell surface]
GO:0016021 [integral component of membrane]
GO:0016324 [apical plasma membrane]
GO:0030018 [Z disc]
GO:0030424 [axon]
GO:0030426 [growth cone]
GO:0031594 [neuromuscular junction]
GO:0035253 [ciliary rootlet]
GO:0035556 [intracellular signal transduction]
GO:0043025 [neuronal cell body]
GO:0043198 [dendritic shaft]
GO:0045296 [cadherin binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050435 [beta-amyloid metabolic process]
GO:0051563 [smooth endoplasmic reticulum calcium ion homeostasis]
GO:0060070 [canonical Wnt signaling pathway]
Show all
147 aa
16.6 kDa
No 2
PSEN1-020
ENSP00000451915
ENST00000554131
G3V4P4 [Direct mapping]
Presenilin-1
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
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004190 [aspartic-type endopeptidase activity]
GO:0005634 [nucleus]
GO:0005743 [mitochondrial inner membrane]
GO:0005765 [lysosomal membrane]
GO:0005790 [smooth endoplasmic reticulum]
GO:0005938 [cell cortex]
GO:0006508 [proteolysis]
GO:0009986 [cell surface]
GO:0016021 [integral component of membrane]
GO:0016324 [apical plasma membrane]
GO:0030018 [Z disc]
GO:0030424 [axon]
GO:0030426 [growth cone]
GO:0031594 [neuromuscular junction]
GO:0035253 [ciliary rootlet]
GO:0035556 [intracellular signal transduction]
GO:0043025 [neuronal cell body]
GO:0043198 [dendritic shaft]
GO:0045296 [cadherin binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050435 [beta-amyloid metabolic process]
GO:0051563 [smooth endoplasmic reticulum calcium ion homeostasis]
GO:0060070 [canonical Wnt signaling pathway]
Show all
109 aa
12.5 kDa
No 1
PSEN1-021
ENSP00000450652
ENST00000555254
G3V2G7 [Direct mapping]
Presenilin-1
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
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004190 [aspartic-type endopeptidase activity]
GO:0005634 [nucleus]
GO:0005743 [mitochondrial inner membrane]
GO:0005765 [lysosomal membrane]
GO:0005790 [smooth endoplasmic reticulum]
GO:0005938 [cell cortex]
GO:0006508 [proteolysis]
GO:0009986 [cell surface]
GO:0016021 [integral component of membrane]
GO:0016324 [apical plasma membrane]
GO:0030018 [Z disc]
GO:0030424 [axon]
GO:0030426 [growth cone]
GO:0031594 [neuromuscular junction]
GO:0035253 [ciliary rootlet]
GO:0035556 [intracellular signal transduction]
GO:0043025 [neuronal cell body]
GO:0043198 [dendritic shaft]
GO:0045296 [cadherin binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050435 [beta-amyloid metabolic process]
GO:0051563 [smooth endoplasmic reticulum calcium ion homeostasis]
GO:0060070 [canonical Wnt signaling pathway]
Show all
155 aa
17.6 kDa
No 2
PSEN1-026
ENSP00000451662
ENST00000556011
G3V490 [Direct mapping]
Presenilin-1
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005634 [nucleus]
GO:0005743 [mitochondrial inner membrane]
GO:0005765 [lysosomal membrane]
GO:0005790 [smooth endoplasmic reticulum]
GO:0005938 [cell cortex]
GO:0009986 [cell surface]
GO:0016324 [apical plasma membrane]
GO:0030018 [Z disc]
GO:0030424 [axon]
GO:0030426 [growth cone]
GO:0031594 [neuromuscular junction]
GO:0035253 [ciliary rootlet]
GO:0043025 [neuronal cell body]
GO:0043198 [dendritic shaft]
GO:0045296 [cadherin binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050435 [beta-amyloid metabolic process]
GO:0051563 [smooth endoplasmic reticulum calcium ion homeostasis]
GO:0060070 [canonical Wnt signaling pathway]
Show all
43 aa
4.9 kDa
No 0
PSEN1-027
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
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139 [Golgi membrane]
GO:0000776 [kinetochore]
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:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0005765 [lysosomal membrane]
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:0006509 [membrane protein ectodomain proteolysis]
GO:0007220 [Notch receptor processing]
GO:0008013 [beta-catenin binding]
GO:0009986 [cell surface]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016235 [aggresome]
GO:0016324 [apical plasma membrane]
GO:0016337 [single organismal cell-cell adhesion]
GO:0016485 [protein processing]
GO:0022617 [extracellular matrix disassembly]
GO:0030018 [Z disc]
GO:0030165 [PDZ domain binding]
GO:0030198 [extracellular matrix organization]
GO:0030424 [axon]
GO:0030426 [growth cone]
GO:0031594 [neuromuscular junction]
GO:0031965 [nuclear membrane]
GO:0032469 [endoplasmic reticulum calcium ion homeostasis]
GO:0035253 [ciliary rootlet]
GO:0035556 [intracellular signal transduction]
GO:0042325 [regulation of phosphorylation]
GO:0042987 [amyloid precursor protein catabolic process]
GO:0043025 [neuronal cell body]
GO:0043066 [negative regulation of apoptotic process]
GO:0043085 [positive regulation of catalytic activity]
GO:0043198 [dendritic shaft]
GO:0045121 [membrane raft]
GO:0045296 [cadherin binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050435 [beta-amyloid metabolic process]
GO:0051563 [smooth endoplasmic reticulum calcium ion homeostasis]
GO:0060070 [canonical Wnt signaling pathway]
GO:0060999 [positive regulation of dendritic spine development]
GO:0070588 [calcium ion transmembrane transport]
GO:0070765 [gamma-secretase complex]
Show all
409 aa
46.3 kDa
No 8
PSEN1-028
ENSP00000453466
ENST00000560005
H0YM52 [Direct mapping]
Presenilin-1
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
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004190 [aspartic-type endopeptidase activity]
GO:0005634 [nucleus]
GO:0005743 [mitochondrial inner membrane]
GO:0005765 [lysosomal membrane]
GO:0005790 [smooth endoplasmic reticulum]
GO:0005938 [cell cortex]
GO:0006508 [proteolysis]
GO:0009986 [cell surface]
GO:0016021 [integral component of membrane]
GO:0016324 [apical plasma membrane]
GO:0030018 [Z disc]
GO:0030424 [axon]
GO:0030426 [growth cone]
GO:0031594 [neuromuscular junction]
GO:0035253 [ciliary rootlet]
GO:0035556 [intracellular signal transduction]
GO:0043025 [neuronal cell body]
GO:0043198 [dendritic shaft]
GO:0045296 [cadherin binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050435 [beta-amyloid metabolic process]
GO:0051563 [smooth endoplasmic reticulum calcium ion homeostasis]
GO:0060070 [canonical Wnt signaling pathway]
Show all
109 aa
12.5 kDa
No 1

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