PSEN2 and APH1A

Data Source:
HPRD (in vitro, in vivo)

		PSEN2	APH1A
Description		presenilin 2	aph-1 homolog A, gamma-secretase subunit
Image		No pdb structure
GO Annotations	Cellular Component	Golgi Membrane Kinetochore Nucleus Nuclear Inner Membrane Mitochondrial Inner Membrane Lysosomal Membrane Endoplasmic Reticulum Endoplasmic Reticulum Membrane Golgi Apparatus Centrosome Plasma Membrane Integral Component Of Plasma Membrane Cell Cortex Cell Surface Membrane Apical Plasma Membrane Z Disc Growth Cone Neuromuscular Junction Protein-containing Complex Ciliary Rootlet Neuronal Cell Body Dendritic Shaft Membrane Raft Perinuclear Region Of Cytoplasm Gamma-secretase Complex	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
	Molecular Function	Endopeptidase Activity Protein Binding Aspartic Endopeptidase Activity, Intramembrane Cleaving	Protein Binding Enzyme Binding Protein-macromolecule Adaptor Activity Endopeptidase Activator Activity
	Biological Process	Membrane Protein Ectodomain Proteolysis Calcium Ion Transport Notch Receptor Processing Protein Processing Membrane Protein Intracellular Domain Proteolysis Amyloid-beta Formation Notch Receptor Processing, Ligand-dependent Intracellular Signal Transduction Amyloid Precursor Protein Catabolic Process Positive Regulation Of Apoptotic Process Negative Regulation Of Apoptotic Process Positive Regulation Of Catalytic Activity Ephrin Receptor Signaling Pathway Amyloid-beta Metabolic Process Regulation Of Calcium Import Into The Mitochondrion Mitochondrion-endoplasmic Reticulum Membrane Tethering	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
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	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
Drugs			E-2012
Diseases		Alzheimer's disease (AD)
GWAS		Heel bone mineral density ( 30598549) Refractive error ( 32231278)	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)
Interacting Genes		61 interacting genes: AAMP ACTG1 AP1G1 APH1A APH1B APP AURKA BCL2L1 CAPN1 CASP1 CASP3 CASP6 CASP7 CASP8 CEP55 CFLAR CHKA CIB1 CSNK1A1 CSNK1D CSNK2A1 CTNNB1 CTNND2 DNAJB1 DOCK3 ECD EID1 ELAVL1 EVI5L EXOC6 FBXL12 FHL2 FLNA FLNB GCDH GFAP HLA-DMB HPS1 ICAM5 IFIT3 IFIT5 KCNIP3 KCNIP4 LIPF MAST1 METTL2B NCSTN NOS3 NOTCH1 NOTCH2 NOTCH3 NOTCH4 OGA PDCD4 PSENEN RAB11A RHEB RNF32 SPC24 SRI UBQLN1	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
Entrez ID		5664	51107
HPRD ID		02860	06360
Ensembl ID		ENSG00000143801	ENSG00000117362
Uniprot IDs		P49810	B4DUG7 Q96BI3
PDB IDs			5A63 5FN2 5FN3 5FN4 5FN5 6IDF 6IYC
Enriched GO Terms of Interacting Partners?
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