PSEN1 presenilin 1 [Homo sapiens (human)]

Summary
mRNA and Protein
Pathway
Homologues
Gene Ontology
Links to Other Databases

Gene Symbol	PSEN1
Entrez Gene ID	5663
Full Name	presenilin 1
Synonyms	AD3, FAD, PS-1, PS1, S182
Gene Type	protein-coding
Organism	Homo sapiens (human)
Genome	Chromosome:14 Map Location:14q24.3
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].
Disorder	MIM: 104311 Alzheimer disease, type 3, 607822 (3); Alzheimer disease, type 3,

mRNA	NM_007318, 195947396
Protein	NP_015557, 195947397
Product	presenilin-1 isoform I-463
RefSeq Status	REVIEWED
mRNA	NM_000021, 195947402
Protein	NP_000012, 4506163
Product	presenilin-1 isoform I-467
RefSeq Status	REVIEWED

KEGG

hsa04310	Wnt signaling pathway
hsa05010	Alzheimer's disease
hsa04722	Neurotrophin signaling pathway
hsa04330	Notch signaling pathway

Pathway Interaction Database

p75ntrpathway	p75(NTR)-mediated signaling
ps1pathway	Presenilin action in Notch and Wnt signaling
syndecan_3_pathway	Syndecan-3-mediated signaling events

WikiPathways

WP61	Delta-Notch Signaling Pathway

Reactome

REACT_11061	Signalling by NGF
REACT_691	A third proteolytic cleavage releases NICD
REACT_13776	p75 NTR receptor-mediated signalling
REACT_13720	Cell death signalling via NRAGE, NRIF and NADE
REACT_13443	Regulated proteolysis of p75NTR
REACT_13643	NRIF signals cell death from the nucleus
REACT_299	Signaling by Notch

Homo sapiens (human)	PSEN1	NP_000012.1
Pan troglodytes (chimpanzee)	PSEN1	XP_001149704.1
Canis lupus familiaris (dog)	PSEN1	NP_001002943.1
Bos taurus (cattle)	PSEN1	NP_777146.1
Mus musculus (house mouse)	Psen1	NP_032969.1
Rattus norvegicus (Norway rat)	Psen1	NP_062036.2
Gallus gallus (chicken)	PSEN1	NP_989494.1
Danio rerio (zebrafish)	psen1	NP_571099.1
Drosophila melanogaster (fruit fly)	Psn	NP_001137988.1
Caenorhabditis elegans	sel-12	NP_508175.1
Arabidopsis thaliana (thale cress)	AT1G08700	NP_172346.1

Process

ID	Name	Evidence
GO:0000045	autophagic vacuole assembly	IEA
GO:0000186	activation of MAPKK activity	IEA
GO:0001568	blood vessel development	IEA
GO:0001708	cell fate specification	IEA
GO:0001756	somitogenesis	IEA
GO:0001764	neuron migration	IEA
GO:0001933	negative regulation of protein phosphorylation	IEA
GO:0001934	positive regulation of protein phosphorylation	IEA
GO:0001947	heart looping	IEA
GO:0002244	hemopoietic progenitor cell differentiation	IEA
GO:0002286	T cell activation involved in immune response	IEA
GO:0002573	myeloid leukocyte differentiation	IEA
GO:0006469	negative regulation of protein kinase activity	IEA
GO:0006486	protein glycosylation	IEA
GO:0006509	membrane protein ectodomain proteolysis	IDA
GO:0006816	calcium ion transport	ISS
GO:0006839	mitochondrial transport	IEA
GO:0006914	autophagy	IEA
GO:0006915	apoptosis	EXP
GO:0006916	anti-apoptosis	IDA
GO:0006974	response to DNA damage stimulus	IEA
GO:0006979	response to oxidative stress	IEA
GO:0007176	regulation of epidermal growth factor receptor activity	IEA
GO:0007219	Notch signaling pathway	TAS
GO:0007220	Notch receptor processing	ISS
GO:0007220	Notch receptor processing	TAS
GO:0007507	heart development	IEA
GO:0007613	memory	IEA
GO:0008219	cell death	IEA
GO:0008624	induction of apoptosis by extracellular signals	EXP
GO:0009790	embryo development	IEA
GO:0009791	post-embryonic development	IEA
GO:0015031	protein transport	IEA
GO:0015813	L-glutamate transport	IEA
GO:0015871	choline transport	IEA
GO:0016080	synaptic vesicle targeting	IEA
GO:0016337	cell-cell adhesion	IMP
GO:0016485	protein processing	IDA
GO:0021795	cerebral cortex cell migration	IEA
GO:0021870	Cajal-Retzius cell differentiation	IEA
GO:0021904	dorsal/ventral neural tube patterning	IEA
GO:0022008	neurogenesis	IEA
GO:0030326	embryonic limb morphogenesis	IEA
GO:0030900	forebrain development	IEA
GO:0031293	membrane protein intracellular domain proteolysis	EXP
GO:0032469	endoplasmic reticulum calcium ion homeostasis	IDA
GO:0032469	endoplasmic reticulum calcium ion homeostasis	IGI
GO:0035556	intracellular signal transduction	IEA
GO:0040011	locomotion	IEA
GO:0042325	regulation of phosphorylation	IDA
GO:0042640	anagen	IEA
GO:0042987	amyloid precursor protein catabolic process	ISS
GO:0042987	amyloid precursor protein catabolic process	TAS
GO:0043065	positive regulation of apoptosis	IEA
GO:0043085	positive regulation of catalytic activity	IDA
GO:0043393	regulation of protein binding	IEA
GO:0043406	positive regulation of MAP kinase activity	IEA
GO:0043524	negative regulation of neuron apoptosis	IEA
GO:0045860	positive regulation of protein kinase activity	IEA
GO:0048011	nerve growth factor receptor signaling pathway	TAS
GO:0048167	regulation of synaptic plasticity	IEA
GO:0048538	thymus development	IEA
GO:0048666	neuron development	IEA
GO:0048705	skeletal system morphogenesis	IEA
GO:0048854	brain morphogenesis	IEA
GO:0050435	beta-amyloid metabolic process	ISS
GO:0050673	epithelial cell proliferation	IEA
GO:0050771	negative regulation of axonogenesis	IEA
GO:0050820	positive regulation of coagulation	IEA
GO:0050852	T cell receptor signaling pathway	IEA
GO:0051563	smooth endoplasmic reticulum calcium ion homeostasis	ISS
GO:0051605	protein maturation by peptide bond cleavage	IEA
GO:0051966	regulation of synaptic transmission, glutamatergic	IEA
GO:0060075	regulation of resting membrane potential	IEA
GO:0070588	calcium ion transmembrane transport	IMP

Component

ID	Name	Evidence
GO:0000139	Golgi membrane	IEA
GO:0000776	kinetochore	IDA
GO:0005622	intracellular	IEA
GO:0005624	membrane fraction	TAS
GO:0005634	nucleus	IEA
GO:0005640	nuclear outer membrane	IDA
GO:0005739	mitochondrion	IDA
GO:0005743	mitochondrial inner membrane	ISS
GO:0005765	lysosomal membrane	ISS
GO:0005783	endoplasmic reticulum	IDA
GO:0005789	endoplasmic reticulum membrane	IEA
GO:0005790	smooth endoplasmic reticulum	IDA
GO:0005791	rough endoplasmic reticulum	IDA
GO:0005794	Golgi apparatus	IDA
GO:0005813	centrosome	IDA
GO:0005886	plasma membrane	EXP
GO:0005886	plasma membrane	TAS
GO:0005887	integral to plasma membrane	IDA
GO:0005938	cell cortex	ISS
GO:0009986	cell surface	ISS
GO:0016021	integral to membrane	TAS
GO:0016324	apical plasma membrane	ISS
GO:0019717	synaptosome	IEA
GO:0030018	Z disc	ISS
GO:0030424	axon	ISS
GO:0030426	growth cone	ISS
GO:0031410	cytoplasmic vesicle	IEA
GO:0031594	neuromuscular junction	ISS
GO:0031965	nuclear membrane	IDA
GO:0035253	ciliary rootlet	ISS
GO:0043025	neuronal cell body	ISS
GO:0043198	dendritic shaft	ISS
GO:0043227	membrane-bounded organelle	IEA
GO:0045121	membrane raft	ISS
GO:0048471	perinuclear region of cytoplasm	ISS
GO:0070765	gamma-secretase complex	IDA

Function

ID	Name	Evidence
GO:0004175	endopeptidase activity	IDA
GO:0004190	aspartic-type endopeptidase activity	IEA
GO:0005262	calcium channel activity	IMP
GO:0005515	protein binding	IPI
GO:0008013	beta-catenin binding	IPI
GO:0008233	peptidase activity	IEA
GO:0030165	PDZ domain binding	IPI
GO:0045296	cadherin binding	ISS

GeneCards	PSEN1
PDB	2KR6
UniProt	P49768
MIM	104311
Ensembl	ENSG00000080815
HGNC	9508
HPRD	00087

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RefSeq Accession	Definition	Sequence	Price	Select
NM_007318	Homo sapiens presenilin 1 (PSEN1), transcript variant 2, mRNA.	Full Length	$2742.75
NM_007318		ORF Sequence	$403.68
NM_000021	Homo sapiens presenilin 1 (PSEN1), transcript variant 1, mRNA.	Full Length	$2748.15
NM_000021		ORF Sequence	$407.16