MAD1L1

MAD1L1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4DZO, 1GO4
Identifiers
Aliases	MAD1L1, PIG9, TP53I9, TXBP181, MAD1, MAD1 mitotic arrest deficient like 1, mitotic arrest deficient 1 like 1
External IDs	OMIM: 602686; MGI: 1341857; HomoloGene: 74500; GeneCards: MAD1L1; OMA:MAD1L1 - orthologs
Gene location (Human)
Chr.	Chromosome 7 (human)
End	2,233,243 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	140,321,552 bp
RNA expression pattern
	Top expressed in
	sural nerve; ; right testis; ; left testis; ; granulocyte; ; putamen; ; blood; ; right lobe of liver; ; caudate nucleus; ; gonad; ; primary visual cortex;
	Top expressed in
	secondary oocyte; ; blastocyst; ; ventricular zone; ; zygote; ; neural layer of retina; ; thymus; ; morula; ; yolk sac; ; tail of embryo; ; dentate gyrus of hippocampal formation granule cell;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein binding; kinetochore binding; identical protein binding;
Cellular component	centrosome; spindle pole; spindle; nuclear pore; chromosome; microtubule organizing center; mitotic spindle; chromosome, centromeric region; cytoskeleton; kinetochore; cytoplasm; mitotic spindle pole; nuclear envelope; nucleus; cytosol; nuclear pore nuclear basket;
Biological process	regulation of mitotic cell cycle phase transition; regulation of metaphase plate congression; mitotic cell cycle checkpoint signaling; thymus development; cell division; negative regulation of T cell proliferation; cell cycle; mitotic spindle assembly checkpoint signaling; attachment of mitotic spindle microtubules to kinetochore;
	Sources:Amigo / QuickGO
Orthologs
	8379
	17120
	ENSG00000002822
	ENSMUSG00000029554
	Q9Y6D9
	Q9WTX8
NM_001013836; NM_001013837; NM_001304523; NM_001304524; NM_001304525;
	NM_003550
	NM_010752; NM_001359025; NM_001359027
NP_001013858; NP_001013859; NP_001291452; NP_001291453; NP_001291454;
	NP_003541
	NP_034882; NP_001345954; NP_001345956
	Wikidata
View/Edit Human	View/Edit Mouse

Mitotic spindle assembly checkpoint protein MAD1 is a protein that in humans is encoded by the MAD1L1 gene.^[5]^[6]^[7]

MAD1L1 is also known as Human Accelerated Region 3. It may therefore have played a key role in differentiating Humans from Apes.

Function

MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset of anaphase until all chromosome are properly aligned at the metaphase plate. MAD1L1 functions as a homodimer and interacts with MAD2L1. MAD1L1 may play a role in cell cycle control and tumor suppression. Three transcript variants encoding the same protein have been found for this gene.^[7]

Interactions

MAD1L1 has been shown to interact with:

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000002822 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000029554 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Jin DY, Kozak CA, Pangilinan F, Spencer F, Green ED, Jeang KT (May 1999). "Mitotic checkpoint locus MAD1L1 maps to human chromosome 7p22 and mouse chromosome 5". Genomics. 55 (3): 363–4. doi:10.1006/geno.1998.5654. PMID 10049595.
^ Jin DY, Spencer F, Jeang KT (May 1998). "Human T cell leukemia virus type 1 oncoprotein Tax targets the human mitotic checkpoint protein MAD1". Cell. 93 (1): 81–91. doi:10.1016/S0092-8674(00)81148-4. PMID 9546394.
^ ^a ^b "Entrez Gene: MAD1L1 MAD1 mitotic arrest deficient-like 1 (yeast)".
^ ^a ^b Yoon YM, Baek KH, Jeong SJ, Shin HJ, Ha GH, Jeon AH, Hwang SG, Chun JS, Lee CW (September 2004). "WD repeat-containing mitotic checkpoint proteins act as transcriptional repressors during interphase". FEBS Lett. 575 (1–3): 23–9. doi:10.1016/j.febslet.2004.07.089. PMID 15388328.
^ 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. doi:10.1038/nature04209. PMID 16189514.
^ 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. doi:10.1093/emboj/20.22.6371. PMC 125308. PMID 11707408.
^ 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. doi:10.1074/jbc.275.6.4391. PMID 10660610.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000002822 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000029554 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10049595-5] Jin DY, Kozak CA, Pangilinan F, Spencer F, Green ED, Jeang KT (May 1999). "Mitotic checkpoint locus MAD1L1 maps to human chromosome 7p22 and mouse chromosome 5". Genomics. 55 (3): 363–4. doi:10.1006/geno.1998.5654. PMID 10049595.

[pmid9546394-6] Jin DY, Spencer F, Jeang KT (May 1998). "Human T cell leukemia virus type 1 oncoprotein Tax targets the human mitotic checkpoint protein MAD1". Cell. 93 (1): 81–91. doi:10.1016/S0092-8674(00)81148-4. PMID 9546394.

[entrez-7] "Entrez Gene: MAD1L1 MAD1 mitotic arrest deficient-like 1 (yeast)".

[pmid15388328-8] Yoon YM, Baek KH, Jeong SJ, Shin HJ, Ha GH, Jeon AH, Hwang SG, Chun JS, Lee CW (September 2004). "WD repeat-containing mitotic checkpoint proteins act as transcriptional repressors during interphase". FEBS Lett. 575 (1–3): 23–9. doi:10.1016/j.febslet.2004.07.089. PMID 15388328.

[pmid16189514-9] 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. doi:10.1038/nature04209. PMID 16189514.

[pmid11707408-10] 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. doi:10.1093/emboj/20.22.6371. PMC 125308. PMID 11707408.

[pmid10660610-11] 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. doi:10.1074/jbc.275.6.4391. PMID 10660610.

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Function

Interactions

See also

References