MAD1L1

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

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
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7p22.3 Start 1,815,793 bp[1] End 2,233,243 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5 G2|5 78.82 cM Start 140,008,689 bp[2] End 140,321,552 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001948 protein binding • kinetochore binding • identical protein binding Cellular component • condensed chromosome kinetochore • centrosome • spindle pole • spindle • nuclear pore • chromosome • microtubule organizing center • mitotic spindle • chromosome, centromeric region • cytoskeleton • kinetochore • cytoplasm • mitotic spindle pole • nuclear envelope • cell nucleus • cytosol • nuclear pore nuclear basket Biological process • regulation of mitotic cell cycle phase transition • regulation of metaphase plate congression • mitotic cell cycle checkpoint • thymus development • cell division • negative regulation of T cell proliferation • cell cycle • mitotic spindle assembly checkpoint • attachment of mitotic spindle microtubules to kinetochore Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	8379	17120
Ensembl	ENSG00000002822	ENSMUSG00000029554
UniProt	Q9Y6D9	Q9WTX8
RefSeq (mRNA)	NM_001013836 NM_001013837 NM_001304523 NM_001304524 NM_001304525 NM_003550	NM_010752 NM_001359025 NM_001359027
RefSeq (protein)	NP_001013858 NP_001013859 NP_001291452 NP_001291453 NP_001291454 NP_003541	NP_034882 NP_001345954 NP_001345956
Location (UCSC)	Chr 7: 1.82 – 2.23 Mb	Chr 5: 140.01 – 140.32 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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:

• HDAC1,[8]
• Histone deacetylase 2,[8] and
• MAD2L1,[9][10][11]

See also

• MAD1
• MAD2
• Hyperphosphorylation

References

1. GRCh38: Ensembl release 89: ENSG00000002822 - Ensembl, May 2017
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.
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.
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. S2CID 7345931.
7. "Entrez Gene: MAD1L1 MAD1 mitotic arrest deficient-like 1 (yeast)".
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. S2CID 21762011.
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. S2CID 4427026.
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.
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.