• Gene id: 5663

Gene Summary

• Gene Symbol: PSEN1   Gene   UCSC   Ensembl
• Aliases: ACNINV3, AD3, FAD, PS-1, PS1, S182
• Gene name: presenilin 1
• Alternate names: presenilin-1, presenilin-1 isoform I-467,
• Gene location: 14q24.2 (73136435: 73223690)     Exons: 5     NC_000014.9
• Gene summary(Entrez): 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 o
• OMIM: 104311

Protein Summary

• Protein general information: P49768  
  • Name: Presenilin 1 (PS 1) (EC 3.4.23. ) (Protein S182) [Cleaved into: Presenilin 1 NTF subunit; Presenilin 1 CTF subunit; Presenilin 1 CTF12 (PS1 CTF12)]
  • Length: 467  
  • Mass: 52668
  • Tissue specificity: Detected in azurophile granules in neutrophils and in platelet cytoplasmic granules (at protein level) (PubMed
• Sequence:

  MTELPAPLSYFQNAQMSEDNHLSNTVRSQNDNRERQEHNDRRSLGHPEPLSNGRPQGNSRQVVEQDEEEDEELTL
  KYGAKHVIMLFVPVTLCMVVVVATIKSVSFYTRKDGQLIYTPFTEDTETVGQRALHSILNAAIMISVIVVMTILL
  VVLYKYRCYKVIHAWLIISSLLLLFFFSFIYLGEVFKTYNVAVDYITVALLIWNFGVVGMISIHWKGPLRLQQAY
  LIMISALMALVFIKYLPEWTAWLILAVISVYDLVAVLCPKGPLRMLVETAQERNETLFPALIYSSTMVWLVNMAE
  GDPEAQRRVSKNSKYNAESTERESQDTVAENDDGGFSEEWEAQRDSHLGPHRSTPESRAAVQELSSSILAGEDPE
  ERGVKLGLGDFIFYSVLVGKASATASGDWNTTIACFVAILIGLCLTLLLLAIFKKALPALPISITFGLVFYFATD
  YLVQPFMDQLAFHQFYI

• Structural information:
  • Interpro: IPR002031  IPR001108  IPR006639  IPR042524  
  • PDB: 2KR6 4UIS 5A63 5FN2 5FN3 5FN4 5FN5 6IDF 6IYC
  • PDBsum: 2KR6 4UIS 5A63 5FN2 5FN3 5FN4 5FN5 6IDF 6IYC
  • DIP: 1134
  • STRING: ENSP00000326366
• Other Databases: GeneCards:  PSEN1  Malacards:  PSEN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004190	aspartic-type endopeptidase activity	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051117	ATPase binding	IPI	molecular function
GO:0070851	growth factor receptor binding	IPI	molecular function
GO:1990535	neuron projection maintenance	IGI	biological process
GO:0007613	memory	IGI	biological process
GO:0007611	learning or memory	IGI	biological process
GO:0007611	learning or memory	TAS	biological process
GO:0007611	learning or memory	IGI	biological process
GO:0007611	learning or memory	IGI	biological process
GO:1904646	cellular response to amyloid-beta	IGI	biological process
GO:0042327	positive regulation of phosphorylation	IGI	biological process
GO:1905908	positive regulation of amyloid fibril formation	IGI	biological process
GO:0010628	positive regulation of gene expression	IGI	biological process
GO:0010628	positive regulation of gene expression	IGI	biological process
GO:0042535	positive regulation of tumor necrosis factor biosynthetic process	IGI	biological process
GO:1905598	negative regulation of low-density lipoprotein receptor activity	IGI	NOT|biological process
GO:0002265	astrocyte activation involved in immune response	IGI	biological process
GO:0050808	synapse organization	IGI	biological process
GO:0045821	positive regulation of glycolytic process	IGI	biological process
GO:0010468	regulation of gene expression	IGI	biological process
GO:0010629	negative regulation of gene expression	IGI	biological process
GO:0010629	negative regulation of gene expression	IGI	biological process
GO:0032092	positive regulation of protein binding	IGI	biological process
GO:0048143	astrocyte activation	IGI	biological process
GO:0090647	modulation of age-related behavioral decline	TAS	biological process
GO:0090647	modulation of age-related behavioral decline	IGI	biological process
GO:0090647	modulation of age-related behavioral decline	IGI	biological process
GO:0090647	modulation of age-related behavioral decline	IGI	biological process
GO:0006509	membrane protein ectodomain proteolysis	IDA	biological process
GO:0007220	Notch receptor processing	TAS	biological process
GO:0043085	positive regulation of catalytic activity	IDA	biological process
GO:0016485	protein processing	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0042987	amyloid precursor protein catabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0060999	positive regulation of dendritic spine development	IMP	biological process
GO:0004175	endopeptidase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005743	mitochondrial inner membrane	IBA	cellular component
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0007220	Notch receptor processing	IBA	biological process
GO:0009986	cell surface	IBA	cellular component
GO:0016324	apical plasma membrane	IBA	cellular component
GO:0030018	Z disc	IBA	cellular component
GO:0030426	growth cone	IBA	cellular component
GO:0031594	neuromuscular junction	IBA	cellular component
GO:0043025	neuronal cell body	IBA	cellular component
GO:0043198	dendritic shaft	IBA	cellular component
GO:0005765	lysosomal membrane	IBA	cellular component
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0005938	cell cortex	IBA	cellular component
GO:0006509	membrane protein ectodomain proteolysis	IBA	biological process
GO:0006816	calcium ion transport	IBA	biological process
GO:0008013	beta-catenin binding	IBA	molecular function
GO:0030424	axon	IBA	cellular component
GO:0035253	ciliary rootlet	IBA	cellular component
GO:0042987	amyloid precursor protein catabolic process	IBA	biological process
GO:0043066	negative regulation of apoptotic process	IBA	biological process
GO:0045121	membrane raft	IBA	cellular component
GO:0045296	cadherin binding	IBA	molecular function
GO:0048471	perinuclear region of cytoplasm	IBA	cellular component
GO:0050435	amyloid-beta metabolic process	IBA	biological process
GO:0051563	smooth endoplasmic reticulum calcium ion homeostasis	IBA	biological process
GO:0042982	amyloid precursor protein metabolic process	IDA	biological process
GO:0043005	neuron projection	IDA	cellular component
GO:0016235	aggresome	IDA	cellular component
GO:0042500	aspartic endopeptidase activity, intramembrane cleaving	IDA	molecular function
GO:0016021	integral component of membrane	IDA	cellular component
GO:0070765	gamma-secretase complex	IDA	cellular component
GO:0030426	growth cone	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0010975	regulation of neuron projection development	IMP	biological process
GO:0034205	amyloid-beta formation	IMP	biological process
GO:0060828	regulation of canonical Wnt signaling pathway	ISS	biological process
GO:0032469	endoplasmic reticulum calcium ion homeostasis	IMP	biological process
GO:0042500	aspartic endopeptidase activity, intramembrane cleaving	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004190	aspartic-type endopeptidase activity	IEA	molecular function
GO:0016485	protein processing	IEA	biological process
GO:0042987	amyloid precursor protein catabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0042500	aspartic endopeptidase activity, intramembrane cleaving	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0032469	endoplasmic reticulum calcium ion homeostasis	IDA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0005640	nuclear outer membrane	IDA	cellular component
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0098609	cell-cell adhesion	IMP	biological process
GO:0008013	beta-catenin binding	IPI	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0031293	membrane protein intracellular domain proteolysis	TAS	biological process
GO:0035577	azurophil granule membrane	TAS	cellular component
GO:0043065	positive regulation of apoptotic process	TAS	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0035333	Notch receptor processing, ligand-dependent	TAS	biological process
GO:0035333	Notch receptor processing, ligand-dependent	TAS	biological process
GO:0048013	ephrin receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045121	membrane raft	IEA	cellular component
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0032991	protein-containing complex	IEA	cellular component
GO:0021549	cerebellum development	IEA	biological process
GO:0016485	protein processing	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0006509	membrane protein ectodomain proteolysis	IEA	biological process
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0003407	neural retina development	IEA	biological process
GO:2000059	negative regulation of ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0051604	protein maturation	IEA	biological process
GO:0051563	smooth endoplasmic reticulum calcium ion homeostasis	IEA	biological process
GO:0051444	negative regulation of ubiquitin-protein transferase activity	IEA	biological process
GO:0051402	neuron apoptotic process	IEA	biological process
GO:0050820	positive regulation of coagulation	IEA	biological process
GO:0050771	negative regulation of axonogenesis	IEA	biological process
GO:0050435	amyloid-beta metabolic process	IEA	biological process
GO:0048854	brain morphogenesis	IEA	biological process
GO:0048705	skeletal system morphogenesis	IEA	biological process
GO:0048538	thymus development	IEA	biological process
GO:0048167	regulation of synaptic plasticity	IEA	biological process
GO:0045296	cadherin binding	IEA	molecular function
GO:0043406	positive regulation of MAP kinase activity	IEA	biological process
GO:0043227	membrane-bounded organelle	IEA	cellular component
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0042987	amyloid precursor protein catabolic process	IEA	biological process
GO:0035253	ciliary rootlet	IEA	cellular component
GO:0032436	positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0030326	embryonic limb morphogenesis	IEA	biological process
GO:0022008	neurogenesis	IEA	biological process
GO:0021904	dorsal/ventral neural tube patterning	IEA	biological process
GO:0021870	Cajal-Retzius cell differentiation	IEA	biological process
GO:0021795	cerebral cortex cell migration	IEA	biological process
GO:0016485	protein processing	IEA	biological process
GO:0016080	synaptic vesicle targeting	IEA	biological process
GO:0015871	choline transport	IEA	biological process
GO:0009791	post-embryonic development	IEA	biological process
GO:0007613	memory	IEA	biological process
GO:0007611	learning or memory	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0007175	negative regulation of epidermal growth factor-activated receptor activity	IEA	biological process
GO:0006874	cellular calcium ion homeostasis	IEA	biological process
GO:0006486	protein glycosylation	IEA	biological process
GO:0005938	cell cortex	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0002286	T cell activation involved in immune response	IEA	biological process
GO:0001947	heart looping	IEA	biological process
GO:0001933	negative regulation of protein phosphorylation	IEA	biological process
GO:0001764	neuron migration	IEA	biological process
GO:0099056	integral component of presynaptic membrane	IEA	cellular component
GO:0097060	synaptic membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0042383	sarcolemma	IEA	cellular component
GO:0031594	neuromuscular junction	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0004175	endopeptidase activity	IEA	molecular function
GO:2001234	negative regulation of apoptotic signaling pathway	IEA	biological process
GO:0060828	regulation of canonical Wnt signaling pathway	IEA	biological process
GO:0060075	regulation of resting membrane potential	IEA	biological process
GO:0051966	regulation of synaptic transmission, glutamatergic	IEA	biological process
GO:0050852	T cell receptor signaling pathway	IEA	biological process
GO:0050673	epithelial cell proliferation	IEA	biological process
GO:0048666	neuron development	IEA	biological process
GO:0045860	positive regulation of protein kinase activity	IEA	biological process
GO:0044267	cellular protein metabolic process	IEA	biological process
GO:0043589	skin morphogenesis	IEA	biological process
GO:0043393	regulation of protein binding	IEA	biological process
GO:0043198	dendritic shaft	IEA	cellular component
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0043011	myeloid dendritic cell differentiation	IEA	biological process
GO:0040011	locomotion	IEA	biological process
GO:0035282	segmentation	IEA	biological process
GO:0034205	amyloid-beta formation	IEA	biological process
GO:0032469	endoplasmic reticulum calcium ion homeostasis	IEA	biological process
GO:0030900	forebrain development	IEA	biological process
GO:0030426	growth cone	IEA	cellular component
GO:0030182	neuron differentiation	IEA	biological process
GO:0021987	cerebral cortex development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0007220	Notch receptor processing	IEA	biological process
GO:0007176	regulation of epidermal growth factor-activated receptor activity	IEA	biological process
GO:0006979	response to oxidative stress	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006914	autophagy	IEA	biological process
GO:0006839	mitochondrial transport	IEA	biological process
GO:0006469	negative regulation of protein kinase activity	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0004175	endopeptidase activity	IEA	molecular function
GO:0002573	myeloid leukocyte differentiation	IEA	biological process
GO:0002244	hematopoietic progenitor cell differentiation	IEA	biological process
GO:0002038	positive regulation of L-glutamate import across plasma membrane	IEA	biological process
GO:0001934	positive regulation of protein phosphorylation	IEA	biological process
GO:0001921	positive regulation of receptor recycling	IEA	biological process
GO:0001756	somitogenesis	IEA	biological process
GO:0001708	cell fate specification	IEA	biological process
GO:0001568	blood vessel development	IEA	biological process
GO:0000186	activation of MAPKK activity	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0000045	autophagosome assembly	IEA	biological process
GO:0031901	early endosome membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0030426	growth cone	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0005634	nucleus	IMP	cellular component
GO:1904797	negative regulation of core promoter binding	IMP	biological process
GO:0032991	protein-containing complex	IMP	cellular component
GO:0005790	smooth endoplasmic reticulum	IDA	colocalizes with
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045121	membrane raft	IDA	cellular component
GO:0070765	gamma-secretase complex	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005791	rough endoplasmic reticulum	IDA	cellular component
GO:0005790	smooth endoplasmic reticulum	IDA	cellular component
GO:0000776	kinetochore	IDA	cellular component
GO:0042325	regulation of phosphorylation	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0005813	centrosome	IDA	cellular component
GO:0042307	positive regulation of protein import into nucleus	IMP	biological process
GO:0005262	calcium channel activity	IMP	molecular function
GO:0032469	endoplasmic reticulum calcium ion homeostasis	IGI	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008013	beta-catenin binding	IPI	molecular function
GO:0030165	PDZ domain binding	IPI	molecular function
GO:0016021	integral component of membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa05165	Human papillomavirus infection
hsa04310	Wnt signaling pathway
hsa04722	Neurotrophin signaling pathway
hsa04330	Notch signaling pathway

Diseases

Associated diseases	References
Dilated cardiomyopathy	KEGG:H00294
Frontotemporal lobar degeneration	KEGG:H00078
Acne inversa	KEGG:H00681
Alzheimer disease	KEGG:H00056
Dilated cardiomyopathy	KEGG:H00294
Frontotemporal lobar degeneration	KEGG:H00078
Acne inversa	KEGG:H00681
Alzheimer disease	KEGG:H00056
Alzheimer's disease	PMID:29641600
Alzheimer's disease	PMID:7596406
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq