• Gene id: 4085

Gene Summary

• Gene Symbol: MAD2L1   Gene   UCSC   Ensembl
• Aliases: HSMAD2, MAD2
• Gene name: mitotic arrest deficient 2 like 1
• Alternate names: mitotic spindle assembly checkpoint protein MAD2A, MAD2 (mitotic arrest deficient, yeast, homolog)-like 1, MAD2 mitotic arrest deficient-like 1, MAD2-like protein 1, mitotic arrest deficient 2-like protein 1, mitotic arrest deficient, yeast, homolog-like 1,
• Gene location: 4q27 (120066847: 120055622)     Exons: 4     NC_000004.12
• Gene summary(Entrez): 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 b
• OMIM: 601467

Protein Summary

• Protein general information: Q13257  
  • Name: Mitotic spindle assembly checkpoint protein MAD2A (HsMAD2) (Mitotic arrest deficient 2 like protein 1) (MAD2 like protein 1)
  • Length: 205  
  • Mass: 23510
• Sequence:

  MALQLSREQGITLRGSAEIVAEFFSFGINSILYQRGIYPSETFTRVQKYGLTLLVTTDLELIKYLNNVVEQLKDW
  LYKCSVQKLVVVISNIESGEVLERWQFDIECDKTAKDDSAPREKSQKAIQDEIRSVIRQITATVTFLPLLEVSCS
  FDLLIYTDKDLVVPEKWEESGPQFITNSEEVRLRSFTTTIHKVNSMVAYKIPVND

• Structural information:
  • Protein Domains: (14..19-)
    (/note="HORMA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00109"-)
  • Interpro: IPR003511  IPR036570  
  • Prosite: PS50815
  • PDB: 1DUJ 1GO4 1KLQ 1S2H 2QYF 2V64 2VFX 3GMH 5KHU 5LCW 6F0X
  • PDBsum: 1DUJ 1GO4 1KLQ 1S2H 2QYF 2V64 2VFX 3GMH 5KHU 5LCW 6F0X
  • DIP: 29653
  • STRING: ENSP00000296509
• Other Databases: GeneCards:  MAD2L1  Malacards:  MAD2L1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000776	kinetochore	IBA	cellular component
GO:0005654	nucleoplasm	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0007094	mitotic spindle assembly checkpoint	IBA	biological process
GO:1904667	negative regulation of ubiquitin protein ligase activity	IDA	biological process
GO:0042177	negative regulation of protein catabolic process	IDA	biological process
GO:0000776	kinetochore	IDA	cellular component
GO:0000776	kinetochore	IDA	colocalizes with
GO:0000776	kinetochore	IDA	colocalizes with
GO:0072686	mitotic spindle	IDA	cellular component
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051301	cell division	IEA	biological process
GO:0000776	kinetochore	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0007093	mitotic cell cycle checkpoint	IGI	biological process
GO:0045930	negative regulation of mitotic cell cycle	IMP	biological process
GO:0007094	mitotic spindle assembly checkpoint	TAS	biological process
GO:0031145	anaphase-promoting complex-dependent catabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006511	ubiquitin-dependent protein catabolic process	TAS	biological process
GO:1901990	regulation of mitotic cell cycle phase transition	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0090267	positive regulation of mitotic cell cycle spindle assembly checkpoint	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0000776	kinetochore	IEA	cellular component
GO:0007094	mitotic spindle assembly checkpoint	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0000922	spindle pole	IEA	cellular component
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0000070	mitotic sister chromatid segregation	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000922	spindle pole	IEA	cellular component
GO:0000777	condensed chromosome kinetochore	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0005694	chromosome	IDA	cellular component
GO:0007093	mitotic cell cycle checkpoint	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0000776	kinetochore	IDA	cellular component
GO:0044615	nuclear pore nuclear basket	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0007094	mitotic spindle assembly checkpoint	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0090267	positive regulation of mitotic cell cycle spindle assembly checkpoint	IMP	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0008022	protein C-terminus binding	IMP	molecular function
GO:0051660	establishment of centrosome localization	IMP	biological process
GO:0000132	establishment of mitotic spindle orientation	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05166	Human T-cell leukemia virus 1 infection
hsa04110	Cell cycle
hsa04114	Oocyte meiosis
hsa04914	Progesterone-mediated oocyte maturation

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray