PSEN2

Presenilina 2
Estructuras disponibles
PDB	Buscar ortólogos: PDBe, RCSB
Identificadores
Símbolos	PSEN2 (HGNC: 9509) AD3L, AD4, PS2, STM2
Identificadores; externos	OMIM: 600759 ; EBI: PSEN2; GeneCards: Gen PSEN2; UniProt: PSEN2;
Locus	Cr. 1 q42.13
	Referencias: AmiGO / QuickGO
Ortólogos
Humano	Ratón
5664
P49810	n/a
NP_000438	n/a
	v; t; e;
	[editar datos en Wikidata]

La presenilina 2 (PSEN2) es una proteína codificada en humanos por el gen psen2.^[1]

Los pacientes con la enfermedad de Alzheimer en su variante adquirida por herencia genética, presentan mutaciones en las proteínas denominadas presenilinas (PSEN1 y PSEN2) o en la proteína precursora amiloidea (APP). Estas mutaciones asociadas a la enfermedad resultan en un aumento de la producción de la forma más larga del amiloide beta (principal componente de los depósitos de amiloide encontrados en los cerebros de pacientes con esta enfermedad). Las presenilinas han sido propuestas como reguladoras del procesamiento de la proteína APP, por medio de su acción sobre la secretasa gamma, una enzima que digiere APP. También se piensa que las presenilinas están implicadas en la degradación del receptor Notch, de modo que o bien regulan directamente la actividad de la secretasa gamma, o bien ellas mismas son enzimas con actividad proteasa. Se han descrito dos variantes transcripcionales de PSEN2.^[2]

En células melanocíticas, la expresión de PSEN2 podría estar regulada por el factor de transcripción asociado con microftalmia (MITF).^[3]

Interacciones

La proteína PSEN2 ha demostrado ser capaz de interaccionar con:

Referencias

↑ Levy-Lahad E, Wijsman EM, Nemens E, Anderson L, Goddard KA, Weber JL, Bird TD, Schellenberg GD (Sep de 1995). «A familial Alzheimer's disease locus on chromosome 1». Science 269 (5226): 970-3. PMID 7638621.
↑ «Entrez Gene: PSEN2 presenilin 2 (Alzheimer disease 4)».
↑ Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). «Novel MITF targets identified using a two-step DNA microarray strategy». Pigment Cell Melanoma Res. 21 (6): 665-76. PMID 19067971. doi:10.1111/j.1755-148X.2008.00505.x.
↑ Mah, A L; Perry G, Smith M A, Monteiro M J (Nov. de 2000). «Identification of ubiquilin, a novel presenilin interactor that increases presenilin protein accumulation». J. Cell Biol. (UNITED STATES) 151 (4): 847-62. ISSN 0021-9525. PMID 11076969.
↑ Tanahashi, H; Tabira T (Sep. de 2000). «Alzheimer's disease-associated presenilin 2 interacts with DRAL, an LIM-domain protein». Hum. Mol. Genet. (ENGLAND) 9 (15): 2281-9. ISSN 0964-6906. PMID 11001931.
↑ Zhang, W; Han S W, McKeel D W, Goate A, Wu J Y (Feb. de 1998). «Interaction of presenilins with the filamin family of actin-binding proteins». J. Neurosci. (UNITED STATES) 18 (3): 914-22. ISSN 0270-6474. PMID 9437013.
↑ Passer, B J; Pellegrini L, Vito P, Ganjei J K, D'Adamio L (Aug. de 1999). «Interaction of Alzheimer's presenilin-1 and presenilin-2 with Bcl-X(L). A potential role in modulating the threshold of cell death». J. Biol. Chem. (UNITED STATES) 274 (34): 24007-13. ISSN 0021-9258. PMID 10446169.
↑ Lee, Sheu-Fen; Shah Sanjiv, Li Hongqiao, Yu Cong, Han Weiping, Yu Gang (Nov. de 2002). «Mammalian APH-1 interacts with presenilin and nicastrin and is required for intramembrane proteolysis of amyloid-beta precursor protein and Notch». J. Biol. Chem. (United States) 277 (47): 45013-9. ISSN 0021-9258. PMID 12297508. doi:10.1074/jbc.M208164200.
↑ Yu, G; Nishimura M, Arawaka S, Levitan D, Zhang L, Tandon A, Song Y Q, Rogaeva E, Chen F, Kawarai T, Supala A, Levesque L, Yu H, Yang D S, Holmes E, Milman P, Liang Y, Zhang D M, Xu D H, Sato C, Rogaev E, Smith M, Janus C, Zhang Y, Aebersold R, Farrer L S, Sorbi S, Bruni A, Fraser P, St George-Hyslop P (Sep. de 2000). «Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing». Nature (ENGLAND) 407 (6800): 48-54. ISSN 0028-0836. PMID 10993060. doi:10.1038/35024009.
↑ Morohashi, Yuichi; Hatano Noriyuki, Ohya Susumu, Takikawa Rie, Watabiki Tomonari, Takasugi Nobumasa, Imaizumi Yuji, Tomita Taisuke, Iwatsubo Takeshi (Apr. de 2002). «Molecular cloning and characterization of CALP/KChIP4, a novel EF-hand protein interacting with presenilin 2 and voltage-gated potassium channel subunit Kv4». J. Biol. Chem. (United States) 277 (17): 14965-75. ISSN 0021-9258. PMID 11847232. doi:10.1074/jbc.M200897200.
↑ Shinozaki, K; Maruyama K, Kume H, Tomita T, Saido T C, Iwatsubo T, Obata K (mayo. de 1998). «The presenilin 2 loop domain interacts with the mu-calpain C-terminal region». Int. J. Mol. Med. (GREECE) 1 (5): 797-9. ISSN 1107-3756. PMID 9852298.
↑ Stabler, S M; Ostrowski L L, Janicki S M, Monteiro M J (Jun. de 1999). «A myristoylated calcium-binding protein that preferentially interacts with the Alzheimer's disease presenilin 2 protein». J. Cell Biol. (UNITED STATES) 145 (6): 1277-92. ISSN 0021-9525. PMID 10366599.
↑ Buxbaum, J D; Choi E K, Luo Y, Lilliehook C, Crowley A C, Merriam D E, Wasco W (Oct. de 1998). «Calsenilin: a calcium-binding protein that interacts with the presenilins and regulates the levels of a presenilin fragment». Nat. Med. (UNITED STATES) 4 (10): 1177-81. ISSN 1078-8956. PMID 9771743. doi:10.1038/2673.
↑ Choi, E K; Zaidi N F, Miller J S, Crowley A C, Merriam D E, Lilliehook C, Buxbaum J D, Wasco W (Jun. de 2001). «Calsenilin is a substrate for caspase-3 that preferentially interacts with the familial Alzheimer's disease-associated C-terminal fragment of presenilin 2». J. Biol. Chem. (United States) 276 (22): 19197-204. ISSN 0021-9258. PMID 11278424. doi:10.1074/jbc.M008597200.

Datos: Q18030834

[pmid7638621-1] Levy-Lahad E, Wijsman EM, Nemens E, Anderson L, Goddard KA, Weber JL, Bird TD, Schellenberg GD (Sep de 1995). «A familial Alzheimer's disease locus on chromosome 1». Science 269 (5226): 970-3. PMID 7638621.

[2] «Entrez Gene: PSEN2 presenilin 2 (Alzheimer disease 4)».

[pmid19067971-3] Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). «Novel MITF targets identified using a two-step DNA microarray strategy». Pigment Cell Melanoma Res. 21 (6): 665-76. PMID 19067971. doi:10.1111/j.1755-148X.2008.00505.x.

[pmid11076969-4] Mah, A L; Perry G, Smith M A, Monteiro M J (Nov. de 2000). «Identification of ubiquilin, a novel presenilin interactor that increases presenilin protein accumulation». J. Cell Biol. (UNITED STATES) 151 (4): 847-62. ISSN 0021-9525. PMID 11076969.

[pmid11001931-5] Tanahashi, H; Tabira T (Sep. de 2000). «Alzheimer's disease-associated presenilin 2 interacts with DRAL, an LIM-domain protein». Hum. Mol. Genet. (ENGLAND) 9 (15): 2281-9. ISSN 0964-6906. PMID 11001931.

[pmid9437013-6] Zhang, W; Han S W, McKeel D W, Goate A, Wu J Y (Feb. de 1998). «Interaction of presenilins with the filamin family of actin-binding proteins». J. Neurosci. (UNITED STATES) 18 (3): 914-22. ISSN 0270-6474. PMID 9437013.

[pmid10446169-7] Passer, B J; Pellegrini L, Vito P, Ganjei J K, D'Adamio L (Aug. de 1999). «Interaction of Alzheimer's presenilin-1 and presenilin-2 with Bcl-X(L). A potential role in modulating the threshold of cell death». J. Biol. Chem. (UNITED STATES) 274 (34): 24007-13. ISSN 0021-9258. PMID 10446169.

[pmid12297508-8] Lee, Sheu-Fen; Shah Sanjiv, Li Hongqiao, Yu Cong, Han Weiping, Yu Gang (Nov. de 2002). «Mammalian APH-1 interacts with presenilin and nicastrin and is required for intramembrane proteolysis of amyloid-beta precursor protein and Notch». J. Biol. Chem. (United States) 277 (47): 45013-9. ISSN 0021-9258. PMID 12297508. doi:10.1074/jbc.M208164200.

[pmid10993067-9] Yu, G; Nishimura M, Arawaka S, Levitan D, Zhang L, Tandon A, Song Y Q, Rogaeva E, Chen F, Kawarai T, Supala A, Levesque L, Yu H, Yang D S, Holmes E, Milman P, Liang Y, Zhang D M, Xu D H, Sato C, Rogaev E, Smith M, Janus C, Zhang Y, Aebersold R, Farrer L S, Sorbi S, Bruni A, Fraser P, St George-Hyslop P (Sep. de 2000). «Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing». Nature (ENGLAND) 407 (6800): 48-54. ISSN 0028-0836. PMID 10993060. doi:10.1038/35024009.

[pmid11847232-10] Morohashi, Yuichi; Hatano Noriyuki, Ohya Susumu, Takikawa Rie, Watabiki Tomonari, Takasugi Nobumasa, Imaizumi Yuji, Tomita Taisuke, Iwatsubo Takeshi (Apr. de 2002). «Molecular cloning and characterization of CALP/KChIP4, a novel EF-hand protein interacting with presenilin 2 and voltage-gated potassium channel subunit Kv4». J. Biol. Chem. (United States) 277 (17): 14965-75. ISSN 0021-9258. PMID 11847232. doi:10.1074/jbc.M200897200.

[pmid9852298-11] Shinozaki, K; Maruyama K, Kume H, Tomita T, Saido T C, Iwatsubo T, Obata K (mayo. de 1998). «The presenilin 2 loop domain interacts with the mu-calpain C-terminal region». Int. J. Mol. Med. (GREECE) 1 (5): 797-9. ISSN 1107-3756. PMID 9852298.

[pmid10366599-12] Stabler, S M; Ostrowski L L, Janicki S M, Monteiro M J (Jun. de 1999). «A myristoylated calcium-binding protein that preferentially interacts with the Alzheimer's disease presenilin 2 protein». J. Cell Biol. (UNITED STATES) 145 (6): 1277-92. ISSN 0021-9525. PMID 10366599.

[pmid9771752-13] Buxbaum, J D; Choi E K, Luo Y, Lilliehook C, Crowley A C, Merriam D E, Wasco W (Oct. de 1998). «Calsenilin: a calcium-binding protein that interacts with the presenilins and regulates the levels of a presenilin fragment». Nat. Med. (UNITED STATES) 4 (10): 1177-81. ISSN 1078-8956. PMID 9771743. doi:10.1038/2673.

[pmid11278424-14] Choi, E K; Zaidi N F, Miller J S, Crowley A C, Merriam D E, Lilliehook C, Buxbaum J D, Wasco W (Jun. de 2001). «Calsenilin is a substrate for caspase-3 that preferentially interacts with the familial Alzheimer's disease-associated C-terminal fragment of presenilin 2». J. Biol. Chem. (United States) 276 (22): 19197-204. ISSN 0021-9258. PMID 11278424. doi:10.1074/jbc.M008597200.

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