MAD2L1

Mitotic spindle assembly checkpoint protein MAD2A is a protein that in humans is encoded by the MAD2L1 gene.^[5][6][7]

MAD2L1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1DUJ, 1GO4, 1KLQ, 1S2H, 2QYF, 2V64, 2VFX, 3GMH
Identifiers
Aliases	MAD2L1, HSMAD2, MAD2, MAD2 mitotic arrest deficient-like 1 (yeast), mitotic arrest deficient 2 like 1
External IDs	OMIM: 601467; MGI: 1860374; HomoloGene: 1768; GeneCards: MAD2L1; OMA:MAD2L1 - orthologs
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4q27 Start 120,055,623 bp[1] End 120,066,858 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 C1|6 30.56 cM Start 66,512,374 bp[2] End 66,524,204 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte ventricular zone embryo ganglionic eminence gonad epithelium of nasopharynx bone marrow mucosa of transverse colon amniotic fluid rectum Top expressed in zygote secondary oocyte primitive streak tail of embryo medial ganglionic eminence abdominal wall genital tubercle primary oocyte fetal liver hematopoietic progenitor cell epiblast More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein homodimerization activity protein binding identical protein binding protein C-terminus binding Cellular component cytoplasm cytosol spindle pole nuclear pore chromosome perinuclear region of cytoplasm mitotic spindle chromosome, centromeric region cytoskeleton nucleus kinetochore nucleoplasm nuclear pore nuclear basket Biological process positive regulation of mitotic cell cycle spindle assembly checkpoint negative regulation of protein catabolic process mitotic cell cycle checkpoint signaling negative regulation of apoptotic process cell division mitotic sister chromatid segregation cell cycle anaphase-promoting complex-dependent catabolic process negative regulation of mitotic cell cycle mitotic spindle assembly checkpoint signaling 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 Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4085 56150 Ensembl ENSG00000164109 ENSMUSG00000029910 UniProt Q13257 Q9Z1B5 RefSeq (mRNA) NM_002358 NM_019499 NM_001355624 RefSeq (protein) NP_002349 NP_062372 NP_001342553 Location (UCSC) Chr 4: 120.06 – 120.07 Mb Chr 6: 66.51 – 66.52 Mb PubMed search [3] [4]
Wikidata
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Function

MAD2L1 is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. MAD2L1 is related to the MAD2L2 gene located on chromosome 1. A MAD2 pseudogene has been mapped to chromosome 14.^[7]

Interactions

MAD2L1 has been shown to interact with:

• ADAM17,^[8][9]
• BUB1B,^[10]
• CDC20,^{[11][12][13][14][15][16][17][18][19][20][21][22]}
• CDC27^[17][18] and
• Estrogen receptor beta,^[23]
• MAD2L2,^[24]
• Mad1,^[14][24][25] and
• UBD.^[26]