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PSEN1 and SNUPN
PSEN1
SNUPN
Description
presenilin 1
snurportin 1
Image
GO Annotations
Cellular Component
Golgi Membrane
Kinetochore
Nucleus
Nuclear Outer Membrane
Nucleoplasm
Cytoplasm
Mitochondrion
Mitochondrial Inner Membrane
Lysosomal Membrane
Endosome
Early Endosome
Endoplasmic Reticulum
Endoplasmic Reticulum Membrane
Smooth Endoplasmic Reticulum
Rough Endoplasmic Reticulum
Golgi Apparatus
Centrosome
Plasma Membrane
Cell Cortex
Synaptic Vesicle
Cell Surface
Membrane
Aggresome
Cell Junction
Axon
Dendrite
Growth Cone
Cytoplasmic Vesicle
Neuromuscular Junction
Early Endosome Membrane
Nuclear Membrane
Protein-containing Complex
Ciliary Rootlet
Azurophil Granule Membrane
Sarcolemma
Presynaptic Membrane
Cell Projection
Neuron Projection
Neuronal Cell Body
Dendritic Shaft
Membrane Raft
Synapse
Gamma-secretase Complex
Synaptic Membrane
Postsynapse
Glutamatergic Synapse
Nucleus
Nuclear Pore
Nucleoplasm
Cytoplasm
Cytosol
Plasma Membrane
NLS-dependent Protein Nuclear Import Complex
Molecular Function
Endopeptidase Activity
Aspartic-type Endopeptidase Activity
Calcium Channel Activity
Protein Binding
Beta-catenin Binding
Peptidase Activity
Hydrolase Activity
PDZ Domain Binding
Aspartic Endopeptidase Activity, Intramembrane Cleaving
Cadherin Binding
ATPase Binding
Growth Factor Receptor Binding
RNA Cap Binding
RNA Binding
Protein Binding
Nuclear Import Signal Receptor Activity
Biological Process
Autophagosome Assembly
Negative Regulation Of Transcription By RNA Polymerase II
Blood Vessel Development
Cell Fate Specification
Somitogenesis
Neuron Migration
Positive Regulation Of Receptor Recycling
Heart Looping
Positive Regulation Of L-glutamate Import Across Plasma Membrane
Hematopoietic Progenitor Cell Differentiation
Astrocyte Activation Involved In Immune Response
T Cell Activation Involved In Immune Response
Myeloid Leukocyte Differentiation
Neural Retina Development
Protein Glycosylation
Proteolysis
Membrane Protein Ectodomain Proteolysis
Mitochondrial Transport
Intracellular Calcium Ion Homeostasis
Autophagy
Apoptotic Process
DNA Damage Response
Response To Oxidative Stress
Cell Adhesion
Notch Signaling Pathway
Notch Receptor Processing
Brain Development
Heart Development
Learning Or Memory
Memory
Post-embryonic Development
Gene Expression
Regulation Of Gene Expression
Positive Regulation Of Gene Expression
Negative Regulation Of Gene Expression
Regulation Of Neuron Projection Development
Protein Transport
Choline Transport
Synaptic Vesicle Targeting
Protein Processing
Cerebellum Development
Cerebral Cortex Cell Migration
Cajal-Retzius Cell Differentiation
Dorsal/ventral Neural Tube Patterning
Cerebral Cortex Development
Neurogenesis
Neuron Differentiation
Embryonic Limb Morphogenesis
Forebrain Development
Positive Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process
Endoplasmic Reticulum Calcium Ion Homeostasis
Positive Regulation Of Tumor Necrosis Factor Production
Amyloid-beta Formation
Segmentation
Intracellular Signal Transduction
Locomotion
Negative Regulation Of Epidermal Growth Factor Receptor Signaling Pathway
Positive Regulation Of Protein Import Into Nucleus
Regulation Of Phosphorylation
Amyloid Precursor Protein Metabolic Process
Amyloid Precursor Protein Catabolic Process
Myeloid Dendritic Cell Differentiation
Positive Regulation Of Apoptotic Process
Negative Regulation Of Apoptotic Process
Negative Regulation Of Neuron Apoptotic Process
Skin Morphogenesis
Positive Regulation Of Glycolytic Process
Positive Regulation Of DNA-templated Transcription
Astrocyte Activation
Regulation Of Synaptic Plasticity
Thymus Development
Neuron Development
Skeletal System Morphogenesis
Brain Morphogenesis
Amyloid-beta Metabolic Process
Epithelial Cell Proliferation
Negative Regulation Of Axonogenesis
Synapse Organization
Positive Regulation Of Coagulation
T Cell Receptor Signaling Pathway
Sequestering Of Calcium Ion
Neuron Apoptotic Process
Smooth Endoplasmic Reticulum Calcium Ion Homeostasis
Protein Maturation
Regulation Of Synaptic Transmission, Glutamatergic
Calcium Ion Homeostasis
Regulation Of Resting Membrane Potential
Regulation Of Canonical Wnt Signaling Pathway
Positive Regulation Of Dendritic Spine Development
Neuron Cellular Homeostasis
Calcium Ion Transmembrane Transport
Apoptotic Signaling Pathway
Cell-cell Adhesion
Regulation Of Synaptic Vesicle Cycle
L-glutamate Import Across Plasma Membrane
Regulation Of Postsynapse Organization
Protein Catabolic Process At Postsynapse
Cellular Response To Amyloid-beta
Negative Regulation Of Core Promoter Binding
Positive Regulation Of Amyloid Fibril Formation
Neuron Projection Maintenance
Negative Regulation Of Ubiquitin-dependent Protein Catabolic Process
Negative Regulation Of Apoptotic Signaling Pathway
RNA Import Into Nucleus
Protein Import Into Nucleus
Cytoskeleton Organization
Protein Complex Oligomerization
Protein Tetramerization
SnRNA Import Into Nucleus
Pathways
Nuclear signaling by ERBB4
Degradation of the extracellular matrix
Regulated proteolysis of p75NTR
NRIF signals cell death from the nucleus
Activated NOTCH1 Transmits Signal to the Nucleus
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
NOTCH2 Activation and Transmission of Signal to the Nucleus
EPH-ephrin mediated repulsion of cells
Neutrophil degranulation
NOTCH3 Activation and Transmission of Signal to the Nucleus
NOTCH4 Activation and Transmission of Signal to the Nucleus
Noncanonical activation of NOTCH3
TGFBR3 PTM regulation
snRNP Assembly
Drugs
Diseases
Alzheimer's disease (AD)
Frontotemporal lobar degeneration (FTLD), including: Pick disease of brain; Frontotemporal dementia (FTD); Ubiquitin-positive frontotemporal dementia (UP-FTD); Progressive supranuclear palsy type 1 (PSNP1); Inclusion body myopathy with early-onset paget disease and frontotemporal dementia (IBMPFD); Frontotemporal dementia, chromosome 3-linked (FTD3)
Acne inversa; Hidradenitis supprativa
GWAS
Apolipoprotein B levels (
32203549
)
Glycated hemoglobin levels (
34059833
)
Red cell distribution width (
32888494
)
Refractive error (
32231278
)
Reticulocyte fraction of red cells (
32888494
)
Appendicular lean mass (
33097823
)
Hip circumference adjusted for BMI (
34021172
)
Interacting Genes
92 interacting genes:
ACTN1
AP1M2
APBA1
APH1A
APH1B
APOE
APP
BACE1
BCL2
BCL2L1
CASP1
CASP3
CASP4
CASP6
CASP7
CASP8
CDH1
CDK5
CFL1
CIB1
CTNNA1
CTNNB1
CTNND1
CTNND2
CYP2C18
CYP2C8
DLL1
DOCK3
ECSIT
EFHD1
EFNB2
ENSA
EPB41L3
ERN1
ETFA
FBXL12
FBXW7
FGF13
FLNA
FLNB
GAPDH
GCDH
GDI1
GFAP
GSK3B
HERPUD1
HMGB1
ICAM5
ITSN2
JUP
KANK2
KCNIP3
KCNIP4
MAPK9
MAPT
METTL2B
MTCH1
NCSTN
NOS3
NOTCH1
NOTCH2
NOTCH3
NOTCH4
OXCT1
PDCD4
PIK3R1
PKP4
PRAM1
PRDX2
PRKACA
PRKCZ
PSENEN
PSMA5
PSMB1
RAB11A
RAB3A
RAD23A
RHEB
RMDN3
RNF32
RYR2
SCAF11
SCN1A
SLC10A6
ST13
STAMBPL1
TCF7L2
TDP2
TUBA1B
UBQLN1
UMPS
YME1L1
15 interacting genes:
DBN1
DDX20
ENO2
GCNT3
KPNB1
MEX3B
PAFAH1B2
PEX5
RNF126
RPL17
SMN1
SNRPB
TNNT3
XPO1
ZPR1
Entrez ID
5663
10073
HPRD ID
00087
07441
Ensembl ID
ENSG00000080815
ENSG00000169371
Uniprot IDs
A0A024R6A3
A0A0S2Z4D2
P49768
O95149
PDB IDs
2KR6
4UIS
5A63
5FN2
5FN3
5FN4
5FN5
6IDF
6IYC
6LQG
6LR4
7C9I
7D8X
7Y5T
8IM7
8K8E
8KCO
8KCP
8KCS
8KCT
8KCU
8OQY
8OQZ
8X52
8X53
8X54
1XK5
2P8Q
2Q5D
2QNA
3GB8
3GJX
3LWW
3NBY
3NBZ
3NC0
5DIS
Enriched GO Terms of Interacting Partners
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Regulation Of Cell Communication
Regulation Of Programmed Cell Death
Regulation Of Signaling
Regulation Of Apoptotic Process
Plasma Membrane
Positive Regulation Of Neuron Apoptotic Process
Cell Surface Receptor Signaling Pathway
Positive Regulation Of Apoptotic Process
Positive Regulation Of Programmed Cell Death
Apoptotic Process
Regulation Of Protein Localization
Regulation Of Cell Development
Neuron Projection Development
Cytoplasm
Regulation Of Cell Differentiation
Programmed Cell Death
Regulation Of Developmental Process
Cell Death
Negative Regulation Of Developmental Process
Regulation Of Transport
Protein Processing
Cellular Response To Oxygen-containing Compound
Notch Signaling Pathway
Cytosol
Amyloid-beta Formation
Regulation Of Signal Transduction
Positive Regulation Of Cell Communication
Positive Regulation Of Signaling
Regulation Of Neuron Apoptotic Process
Positive Regulation Of Signal Transduction
Regulation Of Biological Quality
Amyloid Precursor Protein Metabolic Process
Apoptotic Signaling Pathway
Negative Regulation Of Cell Development
Cellular Response To Indole-3-methanol
Cell Junction Organization
Regulation Of Establishment Of Protein Localization
Response To Indole-3-methanol
Cellular Localization
Modulation Of Chemical Synaptic Transmission
Cell-cell Junction
Regulation Of Synaptic Plasticity
Positive Regulation Of Proteolysis
Regulation Of Autophagy
Regulation Of Multicellular Organismal Process
Positive Regulation Of Protein Localization
Regulation Of Intracellular Signal Transduction
Protein Maturation
Regulation Of Developmental Growth
Amyloid Precursor Protein Catabolic Process
Gemini Of Cajal Bodies
SMN-Sm Protein Complex
Growth Cone
Spliceosomal SnRNP Assembly
Cajal Body
SMN Complex
Cytoplasm
Regulation Of Nucleocytoplasmic Transport
Cerebral Cortex Neuron Differentiation
Perikaryon
Regulation Of Intracellular Protein Transport
Negative Regulation Of Epidermal Growth Factor Receptor Signaling Pathway
RNA Splicing
Cerebral Cortex Cell Migration
Cytosol
Negative Regulation Of ERBB Signaling Pathway
Cell Cortex
Positive Regulation Of Dendritic Spine Development
Protein-containing Complex
Forebrain Neuron Differentiation
Positive Regulation Of Protein Import Into Nucleus
MRNA Processing
Telencephalon Cell Migration
Forebrain Cell Migration
Negative Regulation Of Core Promoter Binding
Spliceosomal Complex Assembly
Protein-RNA Complex Assembly
Positive Regulation Of Calcium-dependent ATPase Activity
DNA Endoreduplication
Pre-mRNA Catabolic Process
Acetylgalactosaminyl-O-glycosyl-glycoprotein Beta-1,6-N-acetylglucosaminyltransferase Activity
Regulation Of Dendritic Spine Development
Protein Domain Specific Binding
Protein Monoubiquitination
Cell Communication By Chemical Coupling
Synaptic Membrane
RNA Binding
Nuclear Membrane
Smooth Endoplasmic Reticulum Calcium Ion Homeostasis
Cajal-Retzius Cell Differentiation
Regulation Of Protein Import Into Nucleus
Positive Regulation Of Nucleocytoplasmic Transport
Regulation Of Epidermal Growth Factor Receptor Signaling Pathway
Regulation Of Intracellular Transport
Peroxisome Membrane Targeting Sequence Binding
Peroxisome Matrix Targeting Signal-1 Binding
U2 SnRNP Binding
Cellular Response To Triglyceride
N-acetyllactosaminide Beta-1,6-N-acetylglucosaminyltransferase Activity
Beta-1,3-galactosyl-O-glycosyl-glycoprotein Beta-1,6-N-acetylglucosaminyltransferase Activity
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