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; OMA:MAD1L1 - orthologs
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 Bgee Human Mouse (ortholog) 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 BioGPS 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 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
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MAD1L1 is also known as Human Accelerated Region 3. It may have played a key role in the evolution of humans from apes.^[8]

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. Some studies indicate associations of MAD1L1 with psychiatric disorders, including schizophrenia, bipolar disorder, and depression. ^[9][10][11] Three transcript variants encoding the same protein have been found for this gene.^[7]

Interactions

MAD1L1 has been shown to interact with:

• HDAC1,^[12]
• Histone deacetylase 2,^[12] and
• MAD2L1,^[13][14][15]

See also

• MAD1
• MAD2
• Hyperphosphorylation