PSEN1

PSEN1
Estructuras disponibles
PDB	Búsqueda ortóloga: PDBe RCSB
Lista de codigos id de PDB
	2KR6, 5A63, 4UIS, 5FN3, 5FN4, 5FN5, 5FN2
Identificadores
Alias	PSEN1, Psen1, Ad3h, PS-1, PS1, S182, AD3, FAD, presenilin 1, ACNINV3
IDs externos	OMIM: 104311 MGI: 1202717 HomoloGene: 7186 GeneCards: PSEN1
Enfermedades genéticamente relacionadas
	Alzheimer disease 3, dilated cardiomyopathy 1U, enfermedad de Pick
Targeted by Drug
	semagacestat
Ontología génica
Función molecular	• PDZ domain binding; • cadherin binding; • GO:0070122 peptidase activity; • beta-catenin binding; • GO:0001948, GO:0016582 unión a proteína plasmática; • calcium channel activity; • aspartic-type endopeptidase activity; • endopeptidase activity; • hydrolase activity; • aspartic endopeptidase activity, intramembrane cleaving;
Componente celular	• membrana nuclear; • membrana; • mitocondria; • ciliary rootlet; • proyección neuronal; • gamma-secretase complex; • núcleo celular; • Cinetocoro; • centrosoma; • Retículo endoplasmático rugoso; • dendritic shaft; • aggresome; • cell surface; • membrane-bounded organelle; • retículo endoplasmático; • balsa lipídica; • aparato de Golgi; • Cono de crecimiento neural; • Unión neuromuscular; • intracelular; • axón; • nuclear outer membrane; • endoplasmic reticulum membrane; • Golgi membrane; • integral component of plasma membrane; • Retículo endoplasmático liso; • lysosomal membrane; • unión celular; • dendrita; • presynapse; • mitochondrial inner membrane; • GO:0016023 cytoplasmic vesicle; • citoplasma; • membrana plasmática; • corteza celular; • componente integral de membrana; • azurophil granule membrane; • Z discdkac; • soma; • perinuclear region of cytoplasm; • early endosome; • Vesícula sináptica; • GO:0009327 complejo macromolecular; • Sarcolema; • sinapsis; • synaptic membrane; • integral component of presynaptic membrane; • endosoma; • early endosome membrane; • cell projection;
Proceso biológico	• GO:1904089 negative regulation of neuron apoptotic process; • somitogenesis; • positive regulation of protein phosphorylation; • positive regulation of MAP kinase activity; • GO:0048554 positive regulation of catalytic activity; • mitochondrial transport; • post-embryonic development; • positive regulation of dendritic spine development; • cellular response to DNA damage stimulus; • heart looping; • blood vessel development; • membrane protein ectodomain proteolysis; • regulation of epidermal growth factor-activated receptor activity; • regulation of resting membrane potential; • regulation of synaptic transmission, glutamatergic; • amyloid precursor protein catabolic process; • GO:0097285 apoptosis; • thymus development; • positive regulation of coagulation; • negative regulation of apoptotic signaling pathway; • neuron development; • memoria; • endoplasmic reticulum calcium ion homeostasis; • GO:0001306 response to oxidative stress; • autophagosome assembly; • GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated; • Desarrollo del corazón; • negative regulation of axonogenesis; • embryonic limb morphogenesis; • locomoción; • aprendizaje o memoria; • protein transport; • cerebral cortex cell migration; • positive regulation of proteasomal ubiquitin-dependent protein catabolic process; • L-glutamate transmembrane transport; • brain morphogenesis; • Ruta de señalizacion notch; • GO:0033128 negative regulation of protein phosphorylation; • myeloid leukocyte differentiation; • neuron apoptotic process; • smooth endoplasmic reticulum calcium ion homeostasis; • synaptic vesicle targeting; • Cajal-Retzius cell differentiation; • skin morphogenesis; • negative regulation of protein kinase activity; • cell fate specification; • morfogénesis del sistema esqueletal; • regulation of phosphorylation; • cellular calcium ion homeostasis; • epithelial cell proliferation; • neuron migration; • negative regulation of apoptotic process; • GO:1901227 negative regulation of transcription by RNA polymerase II; • proteólisis; • regulation of synaptic plasticity; • negative regulation of epidermal growth factor-activated receptor activity; • adherencia celular; • hematopoietic progenitor cell differentiation; • neuron differentiation; • cerebral cortex development; • canonical Wnt signaling pathway; • dorsal/ventral neural tube patterning; • neural retina development; • positive regulation of protein kinase activity; • T cell activation involved in immune response; • neurogénesis; • GO:0007243 intracellular signal transduction; • protein processing; • protein maturation; • myeloid dendritic cell differentiation; • autofagia; • GO:0033578, GO:0033577, GO:0033575, GO:0033576 protein glycosylation; • desarrollo cerebral; • negative regulation of ubiquitin-protein transferase activity; • choline transport; • positive regulation of apoptotic process; • Notch receptor processing; • negative regulation of ubiquitin-dependent protein catabolic process; • forebrain development; • regulation of protein binding; • T cell receptor signaling pathway; • segmentación; • positive regulation of receptor recycling; • calcium ion transmembrane transport; • amyloid-beta formation; • amyloid precursor protein metabolic process; • neutrophil degranulation; • regulation of canonical Wnt signaling pathway; • amyloid-beta metabolic process; • positive regulation of L-glutamate import across plasma membrane; • astrocyte activation involved in immune response; • regulation of neuron projection development; • cerebellum development; • positive regulation of protein binding; • Notch receptor processing, ligand-dependent; • positive regulation of phosphorylation; • astrocyte activation; • synapse organization; • cell-cell adhesion; • 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; • membrane protein intracellular domain proteolysis; • positive regulation of protein import into nucleus; • ephrin receptor signaling pathway; • GO:1901313 positive regulation of gene expression; • negative regulation of gene expression; • positive regulation of glycolytic process;
	Fuentes: Amigo / QuickGO
Patrón de la expressión del ARN
	; ;
	Más referencias a datos de expressión
Ortólogos
	5663
	19164
	ENSG00000080815
	ENSMUSG00000019969
	P49768
	P49769
	NM_000021; NM_007318; NM_007319
	NM_008943; NM_001362271
	NP_000012; NP_015557
	NP_001349200
	Wikidata
Ver/Editar Humano	Ver/Editar Ratón

PSEN1 o presenilina-1, es una proteína transmembranal que en la especia humana está codificada por el gen PSEN1 situado en el cromosoma 14. La preselina-1 es una subunidad de la enzima gamma secretasa, tiene la función de facilitar la proteólisis de numerosa proteínas en la célula. Dentro de la familia de las presenilinas, se han descrito dos variantes: la presenilina 1 o PSEN1 y la presenilina 2 o PSEN2.^[5]^[6]^[7]^[8]

PSEN1 y enfermedad de Alzheimer

La presenilina 1 juega un importante papel en la degradación de la proteína precursora amiloidea (APP). La APP es el precursor del β-amiloide, un péptido de 42 aminoácidos, que es el principal componente de las placas amiloideas presentes en el tejido cerebral de pacientes que sufren la enfermedad de Alzheimer.^[9]

Las mutaciones en el gen de la presenilina 1, son la causa de algunos de los casos de enfermedad de Alzheimer hereditaria de inicio precoz. Sin embargo hay que tener en cuenta que este tipo de enfermedad de Alzheimer, corresponde a menos del 1% del total de pacientes afectos de la enfermedad.

Referencias

↑ «Diseases that are genetically associated with PSEN1 view/edit references on wikidata».
↑ «Drugs that physically interact with Presenilin 1 view/edit references on wikidata».
↑ «Human PubMed Reference:».
↑ «Mouse PubMed Reference:».
↑ St George-Hyslop P, Fraser PE: Assembly of the presenilin γ-/ε-secretase complex. J. Neurochem., vol. 120, pag. 84–8, enero 2012, doi: 10.1111/j.1471-4159.2011.07505.x
↑ Elkoe DJ: Cell biology of the amyloid beta-protein precursor and the mechanism of Alzheimer's disease. Annu. Rev. Cell Biol., vol 10, páginas 373–403, 1994, doi: 10.1146/annurev.cb.10.110194.002105]
↑ Schellenberg GD, Bird TD, Wijsman EM, Orr HT, Anderson L, Nemens E, White JA, Bonnycastle L, Weber JL, Alonso ME: Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. Science, vol 258, pag. 668–71, noviembre 1992, doi: 10.1126/science.1411576
↑ Genetics home reference: PSEN1. Consultado el 5 de julio de 2015
↑ Krishnaswamy S, Verdile G, Groth D, Kanyenda L, Martins RN.: The structure and function of Alzheimer's gamma secretase enzyme complex. Crit Rev Clin Lab Sci. 2009; 46(5-6): 282-301. doi: 10.3109/10408360903335821.