MOUSE:PSN2

Species (Taxon ID)	Mus musculus (Mouse). (10090)
Gene Name(s)	Psen2 (synonyms: Ad4h, Alg3, Ps-2, Psnl2)
Protein Name(s)	Presenilin-2 PS-2 Presenilin-2 NTF subunit Presenilin-2 CTF subunit
External Links
UniProt	Q61144
EMBL	U57324 U57325 AF038935 AK014706 BC010403 U49111
CCDS	CCDS15567.1
RefSeq	NP_001122077.1 NP_035313.2 XP_006496775.1
UniGene	Mm.330850
ProteinModelPortal	Q61144
SMR	Q61144
BioGrid	202415
IntAct	Q61144
MEROPS	A22.002
PhosphoSite	Q61144
MaxQB	Q61144
PaxDb	Q61144
PRIDE	Q61144
Ensembl	ENSMUST00000111104
GeneID	19165
KEGG	mmu:19165
UCSC	uc007dwe.1
CTD	5664
MGI	MGI:109284
eggNOG	NOG237920
GeneTree	ENSGT00390000016593
HOGENOM	HOG000240228
HOVERGEN	HBG011375
InParanoid	Q61144
KO	K04522
OrthoDB	EOG7NGQBG
PhylomeDB	Q61144
Reactome	REACT_196589 REACT_196591 REACT_198574 REACT_199384 REACT_199404 REACT_199411 REACT_199413 REACT_202271 REACT_218614 REACT_243590
ChiTaRS	Psen2
NextBio	295826
PRO	PR:Q61144
Proteomes	UP000000589
Bgee	Q61144
CleanEx	MM_PSEN2
ExpressionAtlas	Q61144
Genevestigator	Q61144
GO	GO:0016324 GO:0030424 GO:0005938 GO:0009986 GO:0005813 GO:0036064 GO:0035253 GO:0005829 GO:0043198 GO:0005783 GO:0005789 GO:0005794 GO:0000139 GO:0030426 GO:0005887 GO:0000776 GO:0005765 GO:0016020 GO:0045121 GO:0005743 GO:0031594 GO:0043025 GO:0005637 GO:0005634 GO:0048471 GO:0005886 GO:0043234 GO:0030018 GO:0004190 GO:0004175 GO:0042987 GO:0050435 GO:0048854 GO:0060048 GO:0001708 GO:0044267 GO:0021904 GO:0030326 GO:0032469 GO:0030900 GO:0001942 GO:0002244 GO:0035556 GO:0007611 GO:0040011 GO:0048286 GO:0006509 GO:0007613 GO:0002573 GO:0043066 GO:2001234 GO:0007175 GO:1902042 GO:0032091 GO:0031333 GO:0001933 GO:2000059 GO:0000122 GO:0051444 GO:0007220 GO:0007219 GO:0043065 GO:0043085 GO:0050820 GO:1902043 GO:0032436 GO:0001921 GO:0051604 GO:0016485 GO:0015031 GO:0007176 GO:0043393 GO:0048167 GO:0043589 GO:0001756 GO:0002286 GO:0050852 GO:0048538
InterPro	IPR001493 IPR001108 IPR006639
PANTHER	PTHR10202 PTHR10202:SF11
Pfam	PF01080
PRINTS	PR01072 PR01074
SMART	SM00730

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
	GO:0070050	neuron cellular homeostasis	PMID:25429133^[1]	ECO:0000316		UniProtKB:P49769	P		Figure 1 C-E brain weight, cortical volume, and cortical neuron (x10^6 cells) is decreased in PS1 cKO;PS2 -/- mice as compared to PS1 cKO;PS2 +/- mice after 16 months.	complete CACAO 10710
involved_in	GO:1990456	mitochondrion-endoplasmic reticulum membrane tethering	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P49810	P		Seeded From UniProt	complete
involved_in	GO:0110097	regulation of calcium import into the mitochondrion	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P49810	P		Seeded From UniProt	complete
involved_in	GO:0070050	neuron cellular homeostasis	PMID:25429133^[1]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:P49769	P		Seeded From UniProt	complete
involved_in	GO:2000059	negative regulation of ubiquitin-dependent protein catabolic process	PMID:20208556^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0051444	negative regulation of ubiquitin-protein transferase activity	PMID:20208556^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0043589	skin morphogenesis	PMID:20208556^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0032436	positive regulation of proteasomal ubiquitin-dependent protein catabolic process	PMID:20208556^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0007175	negative regulation of epidermal growth factor-activated receptor activity	PMID:20208556^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0001921	positive regulation of receptor recycling	PMID:20208556^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0000122	negative regulation of transcription by RNA polymerase II	PMID:20208556^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0043085	positive regulation of catalytic activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P49810	P		Seeded From UniProt	complete
involved_in	GO:0016485	protein processing	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P49810	P		Seeded From UniProt	complete
involved_in	GO:0006509	membrane protein ectodomain proteolysis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P49810	P		Seeded From UniProt	complete
part_of	GO:0005887	integral component of plasma membrane	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P49810	C		Seeded From UniProt	complete
part_of	GO:0005794	Golgi apparatus	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P49810	C		Seeded From UniProt	complete
part_of	GO:0005783	endoplasmic reticulum	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P49810	C		Seeded From UniProt	complete
involved_in	GO:0050435	amyloid-beta metabolic process	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:109284 PANTHER:PTN000024431	P		Seeded From UniProt	complete
part_of	GO:0048471	perinuclear region of cytoplasm	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000024431 WB:WBGene00004769	C		Seeded From UniProt	complete
part_of	GO:0043025	neuronal cell body	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:109284 PANTHER:PTN000024431	C		Seeded From UniProt	complete
part_of	GO:0030018	Z disc	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:109284 PANTHER:PTN000024431	C		Seeded From UniProt	complete
part_of	GO:0016324	apical plasma membrane	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0019947 PANTHER:PTN000024431	C		Seeded From UniProt	complete
involved_in	GO:0007220	Notch receptor processing	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0019947 PANTHER:PTN000024431	P		Seeded From UniProt	complete
involved_in	GO:0006816	calcium ion transport	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:109284 PANTHER:PTN000024431	P		Seeded From UniProt	complete
involved_in	GO:0006509	membrane protein ectodomain proteolysis	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000024431 UniProtKB:P49810	P		Seeded From UniProt	complete
part_of	GO:0005938	cell cortex	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0019947 PANTHER:PTN000024431	C		Seeded From UniProt	complete
part_of	GO:0005887	integral component of plasma membrane	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0019947 PANTHER:PTN000024429 UniProtKB:P49768 UniProtKB:P49810	C		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1202717 PANTHER:PTN000024429 UniProtKB:P49768	C		Seeded From UniProt	complete
enables	GO:0004175	endopeptidase activity	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0019947 MGI:MGI:109284 MGI:MGI:1202717 PANTHER:PTN000024429 RGD:3425 UniProtKB:P49768	F		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:2001234	negative regulation of apoptotic signaling pathway	PMID:15148382^[4]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:1202717	P	regulates_o_occurs_in:(EMAPA:16895) regulates_o_occurs_in:(CL:0000540)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:1990456	mitochondrion-endoplasmic reticulum membrane tethering	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:P49810	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:1902043	positive regulation of extrinsic apoptotic signaling pathway via death domain receptors	PMID:8940094^[5]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0110097	regulation of calcium import into the mitochondrion	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:P49810	P		Seeded From UniProt	complete
part_of	GO:0099056	integral component of presynaptic membrane	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:621060	C		Seeded From UniProt	complete
part_of	GO:0097060	synaptic membrane	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:621060	C		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0060048	cardiac muscle contraction	PMID:16204356^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:1930939	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0051604	protein maturation	PMID:11943765^[7]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:1202717	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0050852	T cell receptor signaling pathway	PMID:17698590^[8]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:1202717	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0050820	positive regulation of coagulation	PMID:12646573^[9]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:2664242	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0050435	amyloid-beta metabolic process	PMID:12684521^[10]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:1930939	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0050435	amyloid-beta metabolic process	PMID:10846187^[11]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0048854	brain morphogenesis	PMID:17614943^[12]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:1202717	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0048538	thymus development	PMID:17698590^[8]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:1202717	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0048286	lung alveolus development	PMID:10518543^[13]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:2149117	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0048167	regulation of synaptic plasticity	PMID:15066262^[14]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:1202717	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0044267	cellular protein metabolic process	PMID:17097608^[15]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:1202717	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0043393	regulation of protein binding	PMID:17920016^[16]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:1202717	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0043085	positive regulation of catalytic activity	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:P49810	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0043065	positive regulation of apoptotic process	PMID:16169548^[17]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:1202717	P	occurs_in:(EMAPA:17428)\|occurs_in:(EMAPA:17459)	Seeded From UniProt	complete
part_of	GO:0043025	neuronal cell body	PMID:9203550^[18]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(EMAPA:35256) part_of:(CL:0000117)\|part_of:(EMAPA:35259) part_of:(CL:0000117)\|part_of:(EMAPA:17549) part_of:(CL:0000117)\|part_of:(EMAPA:35380) part_of:(CL:0000117)\|part_of:(EMAPA:32672) part_of:(CL:0000117)\|part_of:(EMAPA:35295) part_of:(CL:0000117)\|part_of:(EMAPA:32837) part_of:(CL:0000117)\|part_of:(EMAPA:17536) part_of:(CL:0000117)\|part_of:(EMAPA:16896) part_of:(CL:0000117)\|part_of:(EMAPA:32678) part_of:(CL:0000117)\|part_of:(EMAPA:32768) part_of:(CL:0000598)\|part_of:(EMAPA:32769) part_of:(CL:0000598)\|part_of:(EMAPA:32770) part_of:(CL:0000598)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0040011	locomotion	PMID:15148382^[4]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:1202717	P		Seeded From UniProt	complete
part_of	GO:0036064	ciliary basal body	PMID:21703454^[19]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(EMAPA:17528)	Seeded From UniProt	complete
part_of	GO:0032991	protein-containing complex	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:P49810	C		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0032469	endoplasmic reticulum calcium ion homeostasis	PMID:12460542^[20]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:1202717	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0030900	forebrain development	PMID:15148382^[4]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:1202717	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0030326	embryonic limb morphogenesis	PMID:16169548^[17]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:1202717	P	has_participant:(EMAPA:17428)\|has_participant:(EMAPA:17459)	Seeded From UniProt	complete
part_of	GO:0030018	Z disc	PMID:16204356^[6]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0021904	dorsal/ventral neural tube patterning	PMID:10557208^[21]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:1202717	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0016485	protein processing	PMID:15280425^[22]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:1202717	P	occurs_in:(EMAPA:16039) occurs_in:(CL:0000007) has_participant:(MGI:MGI:1914419)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0016485	protein processing	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:P49810	P		Seeded From UniProt	complete
part_of	GO:0016020	membrane	PMID:9950750^[23]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0016020	membrane	PMID:9535056^[24]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0016020	membrane	PMID:15886206^[25]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0016020	membrane	PMID:12684521^[10]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0015031	protein transport	PMID:11943765^[7]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:1202717	P		Seeded From UniProt	complete
part_of	GO:0008021	synaptic vesicle	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:621060	C		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0007613	memory	PMID:17614943^[12]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:1202717	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0007613	memory	PMID:15148382^[4]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:1202717	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0007611	learning or memory	PMID:15066262^[14]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:1202717	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0007219	Notch signaling pathway	PMID:17698590^[8]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:1202717	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0007176	regulation of epidermal growth factor-activated receptor activity	PMID:17556541^[26]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:1202717	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0006509	membrane protein ectodomain proteolysis	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:P49810	P		Seeded From UniProt	complete
part_of	GO:0005887	integral component of plasma membrane	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:P49810	C		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:621060	C		Seeded From UniProt	complete
part_of	GO:0005829	cytosol	PMID:9535056^[24]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005813	centrosome	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:P49810	C		Seeded From UniProt	complete
part_of	GO:0005794	Golgi apparatus	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:P49810	C		Seeded From UniProt	complete
part_of	GO:0005783	endoplasmic reticulum	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:P49810	C		Seeded From UniProt	complete
part_of	GO:0005769	early endosome	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:621060	C		Seeded From UniProt	complete
part_of	GO:0005637	nuclear inner membrane	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:P49810	C		Seeded From UniProt	complete
enables	GO:0004175	endopeptidase activity	PMID:17920016^[16]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:1202717	F		Seeded From UniProt	complete
enables	GO:0004175	endopeptidase activity	PMID:17556541^[26]	ECO:0000315	mutant phenotype evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0004175	endopeptidase activity	PMID:12684521^[10]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:1930939	F		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0002573	myeloid leukocyte differentiation	PMID:15122901^[27]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:1202717	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0002286	T cell activation involved in immune response	PMID:17698590^[8]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:1202717	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0002244	hematopoietic progenitor cell differentiation	PMID:15122901^[27]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:1202717	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0001942	hair follicle development	PMID:10557208^[21]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:1202717	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0001933	negative regulation of protein phosphorylation	PMID:15148382^[4]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:1202717	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0001756	somitogenesis	PMID:19779553^[28]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:1202717	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0001756	somitogenesis	PMID:10557208^[21]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:1202717	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0001708	cell fate specification	PMID:15525534^[29]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:1202717	P	has_participant:(EMAPA:32792)	Seeded From UniProt	complete
part_of	GO:0000776	kinetochore	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:P49810	C		Seeded From UniProt	complete
enables	GO:0004190	aspartic-type endopeptidase activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001108 InterPro:IPR006639	F		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001493	C		Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001108 InterPro:IPR006639	C		Seeded From UniProt	complete
involved_in	GO:0016485	protein processing	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001108	P		Seeded From UniProt	complete
involved_in	GO:0035556	intracellular signal transduction	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001493	P		Seeded From UniProt	complete
enables	GO:0042500	aspartic endopeptidase activity, intramembrane cleaving	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001493	F		Seeded From UniProt	complete
involved_in	GO:0042987	amyloid precursor protein catabolic process	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001493	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0032091	negative regulation of protein binding	PMID:19376115^[30]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0031333	negative regulation of protein complex assembly	PMID:19376115^[30]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005783	endoplasmic reticulum	PMID:19376115^[30]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(EMAPA:16894)	Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	Reactome:R-MMU-209285	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472	C		Seeded From UniProt	complete
involved_in	GO:0007219	Notch signaling pathway	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0914	P		Seeded From UniProt	complete
part_of	GO:0005794	Golgi apparatus	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0333	C		Seeded From UniProt	complete
involved_in	GO:0006508	proteolysis	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0645	P		Seeded From UniProt	complete
enables	GO:0016787	hydrolase activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0378	F		Seeded From UniProt	complete
part_of	GO:0005783	endoplasmic reticulum	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0256	C		Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0812	C		Seeded From UniProt	complete
enables	GO:0008233	peptidase activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0645	F		Seeded From UniProt	complete
part_of	GO:0005789	endoplasmic reticulum membrane	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0097	C		Seeded From UniProt	complete
part_of	GO:0000139	Golgi membrane	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0134	C		Seeded From UniProt	complete
edit table

Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 Watanabe, H et al. (2014) Partial loss of presenilin impairs age-dependent neuronal survival in the cerebral cortex. J. Neurosci. 34 15912-22 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 ^2.3 ^2.4 ^2.5 ^2.6 Rocher-Ros, V et al. (2010) Presenilin modulates EGFR signaling and cell transformation by regulating the ubiquitin ligase Fbw7. Oncogene 29 2950-61 PubMed GONUTS page
↑ ^3.00 ^3.01 ^3.02 ^3.03 ^3.04 ^3.05 ^3.06 ^3.07 ^3.08 ^3.09 ^3.10 ^3.11 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 ^4.3 ^4.4 Feng, R et al. (2004) Forebrain degeneration and ventricle enlargement caused by double knockout of Alzheimer's presenilin-1 and presenilin-2. Proc. Natl. Acad. Sci. U.S.A. 101 8162-7 PubMed GONUTS page
↑ Vito, P et al. (1996) Requirement of the familial Alzheimer's disease gene PS2 for apoptosis. Opposing effect of ALG-3. J. Biol. Chem. 271 31025-8 PubMed GONUTS page
↑ ^6.0 ^6.1 Takeda, T et al. (2005) Presenilin 2 regulates the systolic function of heart by modulating Ca2+ signaling. FASEB J. 19 2069-71 PubMed GONUTS page
↑ ^7.0 ^7.1 Leem, JY et al. (2002) Presenilin 1 is required for maturation and cell surface accumulation of nicastrin. J. Biol. Chem. 277 19236-40 PubMed GONUTS page
↑ ^8.0 ^8.1 ^8.2 ^8.3 Laky, K & Fowlkes, BJ (2007) Presenilins regulate alphabeta T cell development by modulating TCR signaling. J. Exp. Med. 204 2115-29 PubMed GONUTS page
↑ Chen, F et al. (2003) Presenilin 1 and presenilin 2 have differential effects on the stability and maturation of nicastrin in Mammalian brain. J. Biol. Chem. 278 19974-9 PubMed GONUTS page
↑ ^10.0 ^10.1 ^10.2 Lai, MT et al. (2003) Presenilin-1 and presenilin-2 exhibit distinct yet overlapping gamma-secretase activities. J. Biol. Chem. 278 22475-81 PubMed GONUTS page
↑ Sawamura, N et al. (2000) Mutant presenilin 2 transgenic mice. A large increase in the levels of Abeta 42 is presumably associated with the low density membrane domain that contains decreased levels of glycerophospholipids and sphingomyelin. J. Biol. Chem. 275 27901-8 PubMed GONUTS page
↑ ^12.0 ^12.1 Dong, S et al. (2007) Environment enrichment rescues the neurodegenerative phenotypes in presenilins-deficient mice. Eur. J. Neurosci. 26 101-12 PubMed GONUTS page
↑ Herreman, A et al. (1999) Presenilin 2 deficiency causes a mild pulmonary phenotype and no changes in amyloid precursor protein processing but enhances the embryonic lethal phenotype of presenilin 1 deficiency. Proc. Natl. Acad. Sci. U.S.A. 96 11872-7 PubMed GONUTS page
↑ ^14.0 ^14.1 Saura, CA et al. (2004) Loss of presenilin function causes impairments of memory and synaptic plasticity followed by age-dependent neurodegeneration. Neuron 42 23-36 PubMed GONUTS page
↑ Kim, JS et al. (2006) Presenilin-1 inhibits delta-catenin-induced cellular branching and promotes delta-catenin processing and turnover. Biochem. Biophys. Res. Commun. 351 903-8 PubMed GONUTS page
↑ ^16.0 ^16.1 Liu, Q et al. (2007) Amyloid precursor protein regulates brain apolipoprotein E and cholesterol metabolism through lipoprotein receptor LRP1. Neuron 56 66-78 PubMed GONUTS page
↑ ^17.0 ^17.1 Pan, Y et al. (2005) Notch1 and 2 cooperate in limb ectoderm to receive an early Jagged2 signal regulating interdigital apoptosis. Dev. Biol. 286 472-82 PubMed GONUTS page
↑ Blanchard, V et al. (1997) Immunohistochemical analysis of presenilin 2 expression in the mouse brain: distribution pattern and co-localization with presenilin 1 protein. Brain Res. 758 209-17 PubMed GONUTS page
↑ Ezratty, EJ et al. (2011) A role for the primary cilium in Notch signaling and epidermal differentiation during skin development. Cell 145 1129-41 PubMed GONUTS page
↑ Chan, SL et al. (2002) Presenilin-1 mutations sensitize neurons to DNA damage-induced death by a mechanism involving perturbed calcium homeostasis and activation of calpains and caspase-12. Neurobiol. Dis. 11 2-19 PubMed GONUTS page
↑ ^21.0 ^21.1 ^21.2 Donoviel, DB et al. (1999) Mice lacking both presenilin genes exhibit early embryonic patterning defects. Genes Dev. 13 2801-10 PubMed GONUTS page
↑ Gowrishankar, K et al. (2004) Release of a membrane-bound death domain by gamma-secretase processing of the p75NTR homolog NRADD. J. Cell. Sci. 117 4099-111 PubMed GONUTS page
↑ Haks, MC et al. (1999) Cell-fate decisions in early T cell development: regulation by cytokine receptors and the pre-TCR. Semin. Immunol. 11 23-37 PubMed GONUTS page
↑ ^24.0 ^24.1 Apert, C et al. (1998) Profiles of amyloid precursor and presenilin 2-like proteins are correlated during development of the mouse hypothalamus. J. Neuroendocrinol. 10 101-9 PubMed GONUTS page
↑ Vetrivel, KS et al. (2005) Spatial segregation of gamma-secretase and substrates in distinct membrane domains. J. Biol. Chem. 280 25892-900 PubMed GONUTS page
↑ ^26.0 ^26.1 Zhang, YW et al. (2007) Presenilin/gamma-secretase-dependent processing of beta-amyloid precursor protein regulates EGF receptor expression. Proc. Natl. Acad. Sci. U.S.A. 104 10613-8 PubMed GONUTS page
↑ ^27.0 ^27.1 Qyang, Y et al. (2004) Myeloproliferative disease in mice with reduced presenilin gene dosage: effect of gamma-secretase blockage. Biochemistry 43 5352-9 PubMed GONUTS page
↑ Ferjentsik, Z et al. (2009) Notch is a critical component of the mouse somitogenesis oscillator and is essential for the formation of the somites. PLoS Genet. 5 e1000662 PubMed GONUTS page
↑ Pan, Y et al. (2004) gamma-secretase functions through Notch signaling to maintain skin appendages but is not required for their patterning or initial morphogenesis. Dev. Cell 7 731-43 PubMed GONUTS page
↑ ^30.0 ^30.1 ^30.2 Suzuki, Y et al. (2009) An alternative spliced mouse presenilin-2 mRNA encodes a novel gamma-secretase inhibitor. FEBS Lett. 583 1403-8 PubMed GONUTS page

[PMID:25429133-1] 1.0 ^1.1 Watanabe, H et al. (2014) Partial loss of presenilin impairs age-dependent neuronal survival in the cerebral cortex. J. Neurosci. 34 15912-22 PubMed GONUTS page

[PMID:20208556-2] 2.0 ^2.1 ^2.2 ^2.3 ^2.4 ^2.5 ^2.6 Rocher-Ros, V et al. (2010) Presenilin modulates EGFR signaling and cell transformation by regulating the ubiquitin ligase Fbw7. Oncogene 29 2950-61 PubMed GONUTS page

[PMID:21873635-3] 3.00 ^3.01 ^3.02 ^3.03 ^3.04 ^3.05 ^3.06 ^3.07 ^3.08 ^3.09 ^3.10 ^3.11 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:15148382-4] 4.0 ^4.1 ^4.2 ^4.3 ^4.4 Feng, R et al. (2004) Forebrain degeneration and ventricle enlargement caused by double knockout of Alzheimer's presenilin-1 and presenilin-2. Proc. Natl. Acad. Sci. U.S.A. 101 8162-7 PubMed GONUTS page

[PMID:8940094-5] Vito, P et al. (1996) Requirement of the familial Alzheimer's disease gene PS2 for apoptosis. Opposing effect of ALG-3. J. Biol. Chem. 271 31025-8 PubMed GONUTS page

[PMID:16204356-6] 6.0 ^6.1 Takeda, T et al. (2005) Presenilin 2 regulates the systolic function of heart by modulating Ca2+ signaling. FASEB J. 19 2069-71 PubMed GONUTS page

[PMID:11943765-7] 7.0 ^7.1 Leem, JY et al. (2002) Presenilin 1 is required for maturation and cell surface accumulation of nicastrin. J. Biol. Chem. 277 19236-40 PubMed GONUTS page

[PMID:17698590-8] 8.0 ^8.1 ^8.2 ^8.3 Laky, K & Fowlkes, BJ (2007) Presenilins regulate alphabeta T cell development by modulating TCR signaling. J. Exp. Med. 204 2115-29 PubMed GONUTS page

[PMID:12646573-9] Chen, F et al. (2003) Presenilin 1 and presenilin 2 have differential effects on the stability and maturation of nicastrin in Mammalian brain. J. Biol. Chem. 278 19974-9 PubMed GONUTS page

[PMID:12684521-10] 10.0 ^10.1 ^10.2 Lai, MT et al. (2003) Presenilin-1 and presenilin-2 exhibit distinct yet overlapping gamma-secretase activities. J. Biol. Chem. 278 22475-81 PubMed GONUTS page

[PMID:10846187-11] Sawamura, N et al. (2000) Mutant presenilin 2 transgenic mice. A large increase in the levels of Abeta 42 is presumably associated with the low density membrane domain that contains decreased levels of glycerophospholipids and sphingomyelin. J. Biol. Chem. 275 27901-8 PubMed GONUTS page

[PMID:17614943-12] 12.0 ^12.1 Dong, S et al. (2007) Environment enrichment rescues the neurodegenerative phenotypes in presenilins-deficient mice. Eur. J. Neurosci. 26 101-12 PubMed GONUTS page

[PMID:10518543-13] Herreman, A et al. (1999) Presenilin 2 deficiency causes a mild pulmonary phenotype and no changes in amyloid precursor protein processing but enhances the embryonic lethal phenotype of presenilin 1 deficiency. Proc. Natl. Acad. Sci. U.S.A. 96 11872-7 PubMed GONUTS page

[PMID:15066262-14] 14.0 ^14.1 Saura, CA et al. (2004) Loss of presenilin function causes impairments of memory and synaptic plasticity followed by age-dependent neurodegeneration. Neuron 42 23-36 PubMed GONUTS page

[PMID:17097608-15] Kim, JS et al. (2006) Presenilin-1 inhibits delta-catenin-induced cellular branching and promotes delta-catenin processing and turnover. Biochem. Biophys. Res. Commun. 351 903-8 PubMed GONUTS page

[PMID:17920016-16] 16.0 ^16.1 Liu, Q et al. (2007) Amyloid precursor protein regulates brain apolipoprotein E and cholesterol metabolism through lipoprotein receptor LRP1. Neuron 56 66-78 PubMed GONUTS page

[PMID:16169548-17] 17.0 ^17.1 Pan, Y et al. (2005) Notch1 and 2 cooperate in limb ectoderm to receive an early Jagged2 signal regulating interdigital apoptosis. Dev. Biol. 286 472-82 PubMed GONUTS page

[PMID:9203550-18] Blanchard, V et al. (1997) Immunohistochemical analysis of presenilin 2 expression in the mouse brain: distribution pattern and co-localization with presenilin 1 protein. Brain Res. 758 209-17 PubMed GONUTS page

[PMID:21703454-19] Ezratty, EJ et al. (2011) A role for the primary cilium in Notch signaling and epidermal differentiation during skin development. Cell 145 1129-41 PubMed GONUTS page

[PMID:12460542-20] Chan, SL et al. (2002) Presenilin-1 mutations sensitize neurons to DNA damage-induced death by a mechanism involving perturbed calcium homeostasis and activation of calpains and caspase-12. Neurobiol. Dis. 11 2-19 PubMed GONUTS page

[PMID:10557208-21] 21.0 ^21.1 ^21.2 Donoviel, DB et al. (1999) Mice lacking both presenilin genes exhibit early embryonic patterning defects. Genes Dev. 13 2801-10 PubMed GONUTS page

[PMID:15280425-22] Gowrishankar, K et al. (2004) Release of a membrane-bound death domain by gamma-secretase processing of the p75NTR homolog NRADD. J. Cell. Sci. 117 4099-111 PubMed GONUTS page

[PMID:9950750-23] Haks, MC et al. (1999) Cell-fate decisions in early T cell development: regulation by cytokine receptors and the pre-TCR. Semin. Immunol. 11 23-37 PubMed GONUTS page

[PMID:9535056-24] 24.0 ^24.1 Apert, C et al. (1998) Profiles of amyloid precursor and presenilin 2-like proteins are correlated during development of the mouse hypothalamus. J. Neuroendocrinol. 10 101-9 PubMed GONUTS page

[PMID:15886206-25] Vetrivel, KS et al. (2005) Spatial segregation of gamma-secretase and substrates in distinct membrane domains. J. Biol. Chem. 280 25892-900 PubMed GONUTS page

[PMID:17556541-26] 26.0 ^26.1 Zhang, YW et al. (2007) Presenilin/gamma-secretase-dependent processing of beta-amyloid precursor protein regulates EGF receptor expression. Proc. Natl. Acad. Sci. U.S.A. 104 10613-8 PubMed GONUTS page

[PMID:15122901-27] 27.0 ^27.1 Qyang, Y et al. (2004) Myeloproliferative disease in mice with reduced presenilin gene dosage: effect of gamma-secretase blockage. Biochemistry 43 5352-9 PubMed GONUTS page

[PMID:19779553-28] Ferjentsik, Z et al. (2009) Notch is a critical component of the mouse somitogenesis oscillator and is essential for the formation of the somites. PLoS Genet. 5 e1000662 PubMed GONUTS page

[PMID:15525534-29] Pan, Y et al. (2004) gamma-secretase functions through Notch signaling to maintain skin appendages but is not required for their patterning or initial morphogenesis. Dev. Cell 7 731-43 PubMed GONUTS page

[PMID:19376115-30] 30.0 ^30.1 ^30.2 Suzuki, Y et al. (2009) An alternative spliced mouse presenilin-2 mRNA encodes a novel gamma-secretase inhibitor. FEBS Lett. 583 1403-8 PubMed GONUTS page

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