MAD2L1

MAD2L1
Estructuras disponibles
PDB	Búsqueda ortóloga: PDBe RCSB
Lista de codigos id de PDB
	1DUJ, 1GO4, 1KLQ, 1S2H, 2QYF, 2V64, 2VFX, 3GMH
Identificadores
Alias	MAD2L1, HSMAD2, MAD2, MAD2 mitotic arrest deficient-like 1 (yeast), mitotic arrest deficient 2 like 1
IDs externos	OMIM: 601467 MGI: 1860374 HomoloGene: 1768 GeneCards: MAD2L1
Ontología génica
Función molecular	• protein homodimerization activity; • GO:0001948, GO:0016582 unión a proteína plasmática; • identical protein binding; • protein C-terminus binding;
Componente celular	• citoplasma; • citosol; • spindle pole; • poro nuclear; • cromosoma; • perinuclear region of cytoplasm; • huso mitótico; • centrómero; • citoesqueleto; • núcleo celular; • Cinetocoro; • Nucleoplasma; • nuclear pore nuclear basket;
Proceso biológico	• positive regulation of mitotic cell cycle spindle assembly checkpoint; • GO:1903363 negative regulation of protein catabolic process; • mitotic cell cycle checkpoint signaling; • negative regulation of apoptotic process; • división celular; • mitotic sister chromatid segregation; • ciclo celular; • anaphase-promoting complex-dependent catabolic process; • negative regulation of mitotic cell cycle; • mitotic spindle assembly checkpoint signaling; • GO:0060564, GO:1904190 negative regulation of ubiquitin protein ligase activity; • regulation of mitotic cell cycle phase transition; • ubiquitin-dependent protein catabolic process; • establishment of mitotic spindle orientation; • establishment of centrosome localization;
	Fuentes: Amigo / QuickGO
Patrón de la expressión del ARN
	Más referencias a datos de expressión
Ortólogos
	4085
	56150
	ENSG00000164109
	ENSMUSG00000029910
	Q13257
	Q9Z1B5
	NM_002358
	NM_019499; NM_001355624
	NP_002349
	NP_062372; NP_001342553
	Wikidata
Ver/Editar Humano	Ver/Editar Ratón

La proteína MAD2A, (por su siglas en inglés, "punto de control del ensamblaje del huso mitótico"), es una proteína que funge como componente central del punto de control del ensamblaje del huso mitótico. En humanos está codificada por el gen MAD2L1 (por sus siglas en ingl♪s: mitotic arrest deficient 2-like 1.

Función

MAD2L1 es un componente del punto de control del ensamblaje del huso mitótico durante la división celular que bloquea el inicio de la anafase hasta que todos los cromosomas estén correctamente alineados en la placa metafásica. MAD2L1 está relacionado con el gen MAD2L2 ubicado en el cromosoma 1. Se ha mapeado un pseudogén MAD2 en el cromosoma 14.

En células T, la pérdida de Mad2l1 y Trp53 provoca una leucemia linfoblástica aguda (T-ALL) de rápido crecimiento, mientras que en los hepatocitos ocasiona una enfermedad progresiva que deriva en un carcinoma hepatocelular letal.

Interacciones

Se ha demostrado que MAD2L1 interactúa con las proteínas:

Referencias

↑ «Human PubMed Reference:».
↑ «Mouse PubMed Reference:».
↑ «Comprobando tu navegador - reCAPTCHA». www.ncbi.nlm.nih.gov. Consultado el 16 de octubre de 2026.
↑ Li Y, Benezra R (October 1996). «Identification of a human mitotic checkpoint gene: hsMAD2». Science 274 (5285): 246-8. Bibcode:1996Sci...274..246L. PMID 8824189. doi:10.1126/science.274.5285.246.
↑ Xu L, Deng HX, Yang Y, Xia JH, Hung WY, Siddque T (November 1997). «Assignment of mitotic arrest deficient protein 2 (MAD2L1) to human chromosome band 5q23.3 by in situ hybridization». Cytogenet. Cell Genet. 78 (1): 63-4. PMID 9345911. doi:10.1159/000134631.
1 2 «Entrez Gene: MAD2L1 MAD2 mitotic arrest deficient-like 1 (yeast)».
↑ Technology, Cell Signaling. «MAD2L1 (D8A7) Rabbit Monoclonal Antibody». Cell Signaling Technology (en inglés). Consultado el 16 de octubre de 2026.
↑ Foijer, Floris; Albacker, Lee A; Bakker, Bjorn; Spierings, Diana C; Yue, Ying; Xie, Stephanie Z; Davis, Stephanie; Lutum-Jehle, Annegret et al. (20 de marzo de 2017). «Deletion of the MAD2L1 spindle assembly checkpoint gene is tolerated in mouse models of acute T-cell lymphoma and hepatocellular carcinoma». eLife (en inglés) 6. ISSN 2050-084X. PMC 5400506. PMID 28318489. doi:10.7554/eLife.20873. Consultado el 16 de octubre de 2026.
↑ Nelson KK, Schlöndorff J, Blobel CP (November 1999). «Evidence for an interaction of the metalloprotease-disintegrin tumour necrosis factor alpha convertase (TACE) with mitotic arrest deficient 2 (MAD2), and of the metalloprotease-disintegrin MDC9 with a novel MAD2-related protein, MAD2beta». Biochem. J. 343 (3): 673-80. PMC 1220601. PMID 10527948. doi:10.1042/0264-6021:3430673.
↑ Poghosyan, Zaruhi; Robbins, Stephen M.; Houslay, Miles D.; Webster, Ailsa; Murphy, Gillian; Edwards, Dylan R. (2002-02). «Phosphorylation-dependent Interactions between ADAM15 Cytoplasmic Domain and Src Family Protein-tyrosine Kinases». Journal of Biological Chemistry (en inglés) 277 (7): 4999-5007. doi:10.1074/jbc.M107430200. Consultado el 16 de octubre de 2026.
↑ Sudakin V, Chan GK, Yen TJ (September 2001). «Checkpoint inhibition of the APC/C in HeLa cells is mediated by a complex of BUBR1, BUB3, CDC20, and MAD2». J. Cell Biol. 154 (5): 925-36. PMC 2196190. PMID 11535616. doi:10.1083/jcb.200102093.
↑ Zhang Y, Lees E (August 2001). «Identification of an overlapping binding domain on Cdc20 for Mad2 and anaphase-promoting complex: model for spindle checkpoint regulation». Mol. Cell. Biol. 21 (15): 5190-9. PMC 87243. PMID 11438673. doi:10.1128/MCB.21.15.5190-5199.2001.
↑ Sihn CR, Suh EJ, Lee KH, Kim TY, Kim SH (November 2003). «p55CDC/hCDC20 mutant induces mitotic catastrophe by inhibiting the MAD2-dependent spindle checkpoint activity in tumor cells». Cancer Lett. 201 (2): 203-10. PMID 14607335. doi:10.1016/s0304-3835(03)00465-8.
↑ Luo X, Fang G, Coldiron M, Lin Y, Yu H, Kirschner MW, Wagner G (March 2000). «Structure of the Mad2 spindle assembly checkpoint protein and its interaction with Cdc20». Nat. Struct. Biol. 7 (3): 224-9. PMID 10700282. S2CID 1721494. doi:10.1038/73338.
1 2 Sironi L, Melixetian M, Faretta M, Prosperini E, Helin K, Musacchio A (November 2001). «Mad2 binding to Mad1 and Cdc20, rather than oligomerization, is required for the spindle checkpoint». EMBO J. 20 (22): 6371-82. PMC 125308. PMID 11707408. doi:10.1093/emboj/20.22.6371.
↑ D'Angiolella V, Mari C, Nocera D, Rametti L, Grieco D (October 2003). «The spindle checkpoint requires cyclin-dependent kinase activity». Genes Dev. 17 (20): 2520-5. PMC 218146. PMID 14561775. doi:10.1101/gad.267603.
↑ Kallio MJ, Beardmore VA, Weinstein J, Gorbsky GJ (September 2002). «Rapid microtubule-independent dynamics of Cdc20 at kinetochores and centrosomes in mammalian cells». J. Cell Biol. 158 (5): 841-7. PMC 2173153. PMID 12196507. doi:10.1083/jcb.200201135.
1 2 Wassmann, Katja; Benezra, Robert (15 de septiembre de 1998). «Mad2 transiently associates with an APC/p55Cdc complex during mitosis». Proceedings of the National Academy of Sciences (en inglés) 95 (19): 11193-11198. ISSN 0027-8424. PMC 21618. PMID 9736712. doi:10.1073/pnas.95.19.11193. Consultado el 16 de octubre de 2026.
1 2 Kallio M, Weinstein J, Daum JR, Burke DJ, Gorbsky GJ (June 1998). «Mammalian p55CDC mediates association of the spindle checkpoint protein Mad2 with the cyclosome/anaphase-promoting complex, and is involved in regulating anaphase onset and late mitotic events». J. Cell Biol. 141 (6): 1393-406. PMC 2132789. PMID 9628895. doi:10.1083/jcb.141.6.1393.
↑ Fang G, Yu H, Kirschner MW (June 1998). «The checkpoint protein MAD2 and the mitotic regulator CDC20 form a ternary complex with the anaphase-promoting complex to control anaphase initiation». Genes Dev. 12 (12): 1871-83. PMC 316912. PMID 9637688. doi:10.1101/gad.12.12.1871.
↑ Skoufias, Dimitrios A.; Andreassen, Paul R.; Lacroix, Françoise B.; Wilson, Leslie; Margolis, Robert L. (10 de abril de 2001). «Mammalian mad2 and bub1/bubR1 recognize distinct spindle-attachment and kinetochore-tension checkpoints». Proceedings of the National Academy of Sciences (en inglés) 98 (8): 4492-4497. ISSN 0027-8424. PMC 31862. PMID 11274370. doi:10.1073/pnas.081076898. Consultado el 16 de octubre de 2026.
↑ Nilsson J, Yekezare M, Minshull J, Pines J (December 2008). «The APC/C maintains the spindle assembly checkpoint by targeting Cdc20 for destruction». Nat. Cell Biol. 10 (12): 1411-20. PMC 2635557. PMID 18997788. doi:10.1038/ncb1799.
↑ Privette LM, Weier JF, Nguyen HN, Yu X, Petty EM (July 2008). «Loss of CHFR in human mammary epithelial cells causes genomic instability by disrupting the mitotic spindle assembly checkpoint». Neoplasia 10 (7): 643-52. PMC 2435002. PMID 18592005. doi:10.1593/neo.08176.
↑ Poelzl G, Kasai Y, Mochizuki N, Shaul PW, Brown M, Mendelsohn ME (March 2000). «Specific association of estrogen receptor beta with the cell cycle spindle assembly checkpoint protein, MAD2». Proc. Natl. Acad. Sci. U.S.A. 97 (6): 2836-9. Bibcode:2000PNAS...97.2836P. PMC 16016. PMID 10706629. doi:10.1073/pnas.050580997.
1 2 Murakumo Y, Roth T, Ishii H, Rasio D, Numata S, Croce CM, Fishel R (February 2000). «A human REV7 homolog that interacts with the polymerase zeta catalytic subunit hREV3 and the spindle assembly checkpoint protein hMAD2». J. Biol. Chem. 275 (6): 4391-7. PMID 10660610. doi:10.1074/jbc.275.6.4391.
↑ Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (October 2005). «Towards a proteome-scale map of the human protein-protein interaction network». Nature 437 (7062): 1173-8. Bibcode:2005Natur.437.1173R. PMID 16189514. S2CID 4427026. doi:10.1038/nature04209.
↑ Liu YC, Pan J, Zhang C, Fan W, Collinge M, Bender JR, Weissman SM (April 1999). «A MHC-encoded ubiquitin-like protein (FAT10) binds noncovalently to the spindle assembly checkpoint protein MAD2». Proc. Natl. Acad. Sci. U.S.A. 96 (8): 4313-8. Bibcode:1999PNAS...96.4313L. PMC 16329. PMID 10200259. doi:10.1073/pnas.96.8.4313.

Datos: Q18028772

[1] «Human PubMed Reference:».

[2] «Mouse PubMed Reference:».

[3] «Comprobando tu navegador - reCAPTCHA». www.ncbi.nlm.nih.gov. Consultado el 16 de octubre de 2026.

[pmid8824189-4] Li Y, Benezra R (October 1996). «Identification of a human mitotic checkpoint gene: hsMAD2». Science 274 (5285): 246-8. Bibcode:1996Sci...274..246L. PMID 8824189. doi:10.1126/science.274.5285.246.

[pmid9345911-5] Xu L, Deng HX, Yang Y, Xia JH, Hung WY, Siddque T (November 1997). «Assignment of mitotic arrest deficient protein 2 (MAD2L1) to human chromosome band 5q23.3 by in situ hybridization». Cytogenet. Cell Genet. 78 (1): 63-4. PMID 9345911. doi:10.1159/000134631.

[entrez-6] 1 2 «Entrez Gene: MAD2L1 MAD2 mitotic arrest deficient-like 1 (yeast)».

[7] Technology, Cell Signaling. «MAD2L1 (D8A7) Rabbit Monoclonal Antibody». Cell Signaling Technology (en inglés). Consultado el 16 de octubre de 2026.

[8] Foijer, Floris; Albacker, Lee A; Bakker, Bjorn; Spierings, Diana C; Yue, Ying; Xie, Stephanie Z; Davis, Stephanie; Lutum-Jehle, Annegret et al. (20 de marzo de 2017). «Deletion of the MAD2L1 spindle assembly checkpoint gene is tolerated in mouse models of acute T-cell lymphoma and hepatocellular carcinoma». eLife (en inglés) 6. ISSN 2050-084X. PMC 5400506. PMID 28318489. doi:10.7554/eLife.20873. Consultado el 16 de octubre de 2026.

[pmid10527948-9] Nelson KK, Schlöndorff J, Blobel CP (November 1999). «Evidence for an interaction of the metalloprotease-disintegrin tumour necrosis factor alpha convertase (TACE) with mitotic arrest deficient 2 (MAD2), and of the metalloprotease-disintegrin MDC9 with a novel MAD2-related protein, MAD2beta». Biochem. J. 343 (3): 673-80. PMC 1220601. PMID 10527948. doi:10.1042/0264-6021:3430673.

[pmid11741929-10] Poghosyan, Zaruhi; Robbins, Stephen M.; Houslay, Miles D.; Webster, Ailsa; Murphy, Gillian; Edwards, Dylan R. (2002-02). «Phosphorylation-dependent Interactions between ADAM15 Cytoplasmic Domain and Src Family Protein-tyrosine Kinases». Journal of Biological Chemistry (en inglés) 277 (7): 4999-5007. doi:10.1074/jbc.M107430200. Consultado el 16 de octubre de 2026.

[pmid11535616-11] Sudakin V, Chan GK, Yen TJ (September 2001). «Checkpoint inhibition of the APC/C in HeLa cells is mediated by a complex of BUBR1, BUB3, CDC20, and MAD2». J. Cell Biol. 154 (5): 925-36. PMC 2196190. PMID 11535616. doi:10.1083/jcb.200102093.

[pmid11438673-12] Zhang Y, Lees E (August 2001). «Identification of an overlapping binding domain on Cdc20 for Mad2 and anaphase-promoting complex: model for spindle checkpoint regulation». Mol. Cell. Biol. 21 (15): 5190-9. PMC 87243. PMID 11438673. doi:10.1128/MCB.21.15.5190-5199.2001.

[pmid14607335-13] Sihn CR, Suh EJ, Lee KH, Kim TY, Kim SH (November 2003). «p55CDC/hCDC20 mutant induces mitotic catastrophe by inhibiting the MAD2-dependent spindle checkpoint activity in tumor cells». Cancer Lett. 201 (2): 203-10. PMID 14607335. doi:10.1016/s0304-3835(03)00465-8.

[pmid10700282-14] Luo X, Fang G, Coldiron M, Lin Y, Yu H, Kirschner MW, Wagner G (March 2000). «Structure of the Mad2 spindle assembly checkpoint protein and its interaction with Cdc20». Nat. Struct. Biol. 7 (3): 224-9. PMID 10700282. S2CID 1721494. doi:10.1038/73338.

[pmid11707408-15] 1 2 Sironi L, Melixetian M, Faretta M, Prosperini E, Helin K, Musacchio A (November 2001). «Mad2 binding to Mad1 and Cdc20, rather than oligomerization, is required for the spindle checkpoint». EMBO J. 20 (22): 6371-82. PMC 125308. PMID 11707408. doi:10.1093/emboj/20.22.6371.

[pmid14561775-16] D'Angiolella V, Mari C, Nocera D, Rametti L, Grieco D (October 2003). «The spindle checkpoint requires cyclin-dependent kinase activity». Genes Dev. 17 (20): 2520-5. PMC 218146. PMID 14561775. doi:10.1101/gad.267603.

[pmid12196507-17] Kallio MJ, Beardmore VA, Weinstein J, Gorbsky GJ (September 2002). «Rapid microtubule-independent dynamics of Cdc20 at kinetochores and centrosomes in mammalian cells». J. Cell Biol. 158 (5): 841-7. PMC 2173153. PMID 12196507. doi:10.1083/jcb.200201135.

[pmid9736712-18] 1 2 Wassmann, Katja; Benezra, Robert (15 de septiembre de 1998). «Mad2 transiently associates with an APC/p55Cdc complex during mitosis». Proceedings of the National Academy of Sciences (en inglés) 95 (19): 11193-11198. ISSN 0027-8424. PMC 21618. PMID 9736712. doi:10.1073/pnas.95.19.11193. Consultado el 16 de octubre de 2026.

[pmid9628895-19] 1 2 Kallio M, Weinstein J, Daum JR, Burke DJ, Gorbsky GJ (June 1998). «Mammalian p55CDC mediates association of the spindle checkpoint protein Mad2 with the cyclosome/anaphase-promoting complex, and is involved in regulating anaphase onset and late mitotic events». J. Cell Biol. 141 (6): 1393-406. PMC 2132789. PMID 9628895. doi:10.1083/jcb.141.6.1393.

[pmid9637688-20] Fang G, Yu H, Kirschner MW (June 1998). «The checkpoint protein MAD2 and the mitotic regulator CDC20 form a ternary complex with the anaphase-promoting complex to control anaphase initiation». Genes Dev. 12 (12): 1871-83. PMC 316912. PMID 9637688. doi:10.1101/gad.12.12.1871.

[pmid11274370-21] Skoufias, Dimitrios A.; Andreassen, Paul R.; Lacroix, Françoise B.; Wilson, Leslie; Margolis, Robert L. (10 de abril de 2001). «Mammalian mad2 and bub1/bubR1 recognize distinct spindle-attachment and kinetochore-tension checkpoints». Proceedings of the National Academy of Sciences (en inglés) 98 (8): 4492-4497. ISSN 0027-8424. PMC 31862. PMID 11274370. doi:10.1073/pnas.081076898. Consultado el 16 de octubre de 2026.

[pmid18997788-22] Nilsson J, Yekezare M, Minshull J, Pines J (December 2008). «The APC/C maintains the spindle assembly checkpoint by targeting Cdc20 for destruction». Nat. Cell Biol. 10 (12): 1411-20. PMC 2635557. PMID 18997788. doi:10.1038/ncb1799.

[pmid18592005-23] Privette LM, Weier JF, Nguyen HN, Yu X, Petty EM (July 2008). «Loss of CHFR in human mammary epithelial cells causes genomic instability by disrupting the mitotic spindle assembly checkpoint». Neoplasia 10 (7): 643-52. PMC 2435002. PMID 18592005. doi:10.1593/neo.08176.

[pmid10706629-24] Poelzl G, Kasai Y, Mochizuki N, Shaul PW, Brown M, Mendelsohn ME (March 2000). «Specific association of estrogen receptor beta with the cell cycle spindle assembly checkpoint protein, MAD2». Proc. Natl. Acad. Sci. U.S.A. 97 (6): 2836-9. Bibcode:2000PNAS...97.2836P. PMC 16016. PMID 10706629. doi:10.1073/pnas.050580997.

[pmid10660610-25] 1 2 Murakumo Y, Roth T, Ishii H, Rasio D, Numata S, Croce CM, Fishel R (February 2000). «A human REV7 homolog that interacts with the polymerase zeta catalytic subunit hREV3 and the spindle assembly checkpoint protein hMAD2». J. Biol. Chem. 275 (6): 4391-7. PMID 10660610. doi:10.1074/jbc.275.6.4391.

[pmid16189514-26] Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (October 2005). «Towards a proteome-scale map of the human protein-protein interaction network». Nature 437 (7062): 1173-8. Bibcode:2005Natur.437.1173R. PMID 16189514. S2CID 4427026. doi:10.1038/nature04209.

[pmid10200259-27] Liu YC, Pan J, Zhang C, Fan W, Collinge M, Bender JR, Weissman SM (April 1999). «A MHC-encoded ubiquitin-like protein (FAT10) binds noncovalently to the spindle assembly checkpoint protein MAD2». Proc. Natl. Acad. Sci. U.S.A. 96 (8): 4313-8. Bibcode:1999PNAS...96.4313L. PMC 16329. PMID 10200259. doi:10.1073/pnas.96.8.4313.