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APH1A and PSEN1
Data Source:
HPRD
(in vitro, in vivo)
APH1A
PSEN1
Description
aph-1 homolog A, gamma-secretase subunit
presenilin 1
Image
GO Annotations
Cellular Component
Mitochondrion
Early Endosome
Endoplasmic Reticulum
Endoplasmic Reticulum Membrane
Golgi Apparatus
Plasma Membrane
Integral Component Of Plasma Membrane
Synaptic Vesicle
Endosome Membrane
Membrane
Integral Component Of Membrane
Golgi Cisterna Membrane
Gamma-secretase Complex
Integral Component Of Presynaptic Membrane
Golgi Membrane
Kinetochore
Nucleus
Nuclear Outer Membrane
Nucleoplasm
Mitochondrion
Mitochondrial Inner Membrane
Lysosomal Membrane
Endoplasmic Reticulum
Endoplasmic Reticulum Membrane
Smooth Endoplasmic Reticulum
Rough Endoplasmic Reticulum
Golgi Apparatus
Centrosome
Plasma Membrane
Integral Component Of Plasma Membrane
Cell Cortex
Synaptic Vesicle
Cell Surface
Membrane
Integral Component Of Membrane
Aggresome
Apical Plasma Membrane
Z Disc
Cell Junction
Growth Cone
Neuromuscular Junction
Early Endosome Membrane
Nuclear Membrane
Protein-containing Complex
Ciliary Rootlet
Azurophil Granule Membrane
Sarcolemma
Neuron Projection
Neuronal Cell Body
Dendritic Shaft
Membrane Raft
Perinuclear Region Of Cytoplasm
Gamma-secretase Complex
Integral Component Of Presynaptic Membrane
Molecular Function
Protein Binding
Enzyme Binding
Protein-macromolecule Adaptor Activity
Endopeptidase Activator Activity
Endopeptidase Activity
Aspartic-type Endopeptidase Activity
Calcium Channel Activity
Protein Binding
Beta-catenin Binding
PDZ Domain Binding
Aspartic Endopeptidase Activity, Intramembrane Cleaving
Cadherin Binding
ATPase Binding
Growth Factor Receptor Binding
Biological Process
Metanephros Development
Membrane Protein Ectodomain Proteolysis
Notch Signaling Pathway
Notch Receptor Processing
Positive Regulation Of Endopeptidase Activity
Protein Processing
Membrane Protein Intracellular Domain Proteolysis
Amyloid-beta Formation
Notch Receptor Processing, Ligand-dependent
Amyloid Precursor Protein Metabolic Process
Amyloid Precursor Protein Catabolic Process
Positive Regulation Of Apoptotic Process
Positive Regulation Of Catalytic Activity
Cellular Protein Metabolic Process
Ephrin Receptor Signaling Pathway
Autophagosome Assembly
Negative Regulation Of Transcription By RNA Polymerase II
Activation Of MAPKK Activity
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
Neural Retina Development
Protein Glycosylation
Membrane Protein Ectodomain Proteolysis
Calcium Ion Transport
Mitochondrial Transport
Cellular Response To DNA Damage Stimulus
Response To Oxidative Stress
Negative Regulation Of Epidermal Growth Factor-activated Receptor Activity
Notch Receptor Processing
Learning Or Memory
Memory
Post-embryonic Development
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
Embryonic Limb Morphogenesis
Membrane Protein Intracellular Domain Proteolysis
Positive Regulation Of Protein Binding
Positive Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process
Endoplasmic Reticulum Calcium Ion Homeostasis
Positive Regulation Of Tumor Necrosis Factor Production
Amyloid-beta Formation
Notch Receptor Processing, Ligand-dependent
Intracellular Signal Transduction
Positive Regulation Of Protein Import Into Nucleus
Regulation Of Phosphorylation
Positive 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
Positive Regulation Of Catalytic Activity
Neutrophil Degranulation
Positive Regulation Of MAP Kinase Activity
Negative Regulation Of Neuron Apoptotic Process
Skin Morphogenesis
Positive Regulation Of Glycolytic Process
Positive Regulation Of Transcription, DNA-templated
Ephrin Receptor Signaling Pathway
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
Negative Regulation Of Ubiquitin-protein Transferase Activity
Smooth Endoplasmic Reticulum Calcium Ion Homeostasis
Regulation Of Synaptic Transmission, Glutamatergic
Regulation Of Resting Membrane Potential
Regulation Of Canonical Wnt Signaling Pathway
Positive Regulation Of Dendritic Spine Development
Calcium Ion Transmembrane Transport
Modulation Of Age-related Behavioral Decline
Cell-cell Adhesion
L-glutamate Import Across Plasma Membrane
Cellular Response To Amyloid-beta
Negative Regulation Of Core Promoter Binding
Negative Regulation Of Low-density Lipoprotein Receptor Activity
Positive Regulation Of Amyloid Fibril Formation
Neuron Projection Maintenance
Negative Regulation Of Ubiquitin-dependent Protein Catabolic Process
Negative Regulation Of Apoptotic Signaling Pathway
Pathways
Nuclear signaling by ERBB4
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
NOTCH3 Activation and Transmission of Signal to the Nucleus
NOTCH4 Activation and Transmission of Signal to the Nucleus
Noncanonical activation of NOTCH3
Amyloid fiber formation
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
Drugs
E-2012
Diseases
Acne inversa; Hidradenitis supprativa
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)
Alzheimer's disease (AD)
GWAS
Bipolar disorder (
31043756
)
Brain morphology (min-P) (
32665545
)
Brain morphology (MOSTest) (
32665545
)
Chronotype (
26955885
)
Cortical surface area (min-P) (
32665545
)
Cortical surface area (MOSTest) (
32665545
)
Cortical thickness (min-P) (
32665545
)
Cortical thickness (MOSTest) (
32665545
)
Morning vs. evening chronotype (
26955885
26835600
)
Refractive error (
32231278
)
Schizophrenia (
25056061
)
Subcortical volume (min-P) (
32665545
)
Subcortical volume (MOSTest) (
32665545
)
Apolipoprotein B levels (
32203549
)
Red cell distribution width (
32888494
)
Refractive error (
32231278
)
Reticulocyte fraction of red cells (
32888494
)
Interacting Genes
36 interacting genes:
ANKRD46
APOD
ASGR1
ATF4
BHLHE40
CREB3
DRD2
FIS1
FXYD6
GLP1R
GPATCH8
GPR35
HES1
HIVEP1
IGFBP5
KLF11
LAT
MFSD6
MPP1
MRAP2
NCSTN
PSEN1
PSEN2
PSENEN
RBFOX2
SCAND1
SERP1
SLC38A7
SLC39A9
SMAGP
THPO
TLE1
TMED10
TMEM140
TMEM218
TRARG1
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
Entrez ID
51107
5663
HPRD ID
06360
00087
Ensembl ID
ENSG00000117362
ENSG00000080815
Uniprot IDs
B4DUG7
Q96BI3
A0A024R6A3
A0A0S2Z4D2
P49768
PDB IDs
5A63
5FN2
5FN3
5FN4
5FN5
6IDF
6IYC
2KR6
4UIS
5A63
5FN2
5FN3
5FN4
5FN5
6IDF
6IYC
Enriched GO Terms of Interacting Partners
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