• Gene id: 8379

Gene Summary

• Gene Symbol: MAD1L1   Gene   UCSC   Ensembl
• Aliases: MAD1, PIG9, TP53I9, TXBP181
• Gene name: mitotic arrest deficient 1 like 1
• Alternate names: mitotic spindle assembly checkpoint protein MAD1, MAD1 mitotic arrest deficient like 1, MAD1-like protein 1, mitotic arrest deficient 1-like protein 1, mitotic checkpoint MAD1 protein homolog, mitotic-arrest deficient 1, yeast, homolog-like 1, tax-binding prote,
• Gene location: 7p22.3 (2232944: 1815794)     Exons: 21     NC_000007.14
• Gene summary(Entrez): 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 cel
• OMIM: 602686

Protein Summary

• Protein general information: Q9Y6D9  
  • Name: Mitotic spindle assembly checkpoint protein MAD1 (Mitotic arrest deficient 1 like protein 1) (MAD1 like protein 1) (Mitotic checkpoint MAD1 protein homolog) (HsMAD1) (hMAD1) (Tax binding protein 181)
  • Length: 718  
  • Mass: 83067
  • Tissue specificity: Expressed weakly at G0/G1 and highly at late S and G2/M phase.
• Sequence:

  MEDLGENTMVLSTLRSLNNFISQRVEGGSGLDISTSAPGSLQMQYQQSMQLEERAEQIRSKSHLIQVEREKMQME
  LSHKRARVELERAASTSARNYEREVDRNQELLTRIRQLQEREAGAEEKMQEQLERNRQCQQNLDAASKRLREKED
  SLAQAGETINALKGRISELQWSVMDQEMRVKRLESEKQELQEQLDLQHKKCQEANQKIQELQASQEARADHEQQI
  KDLEQKLSLQEQDAAIVKNMKSELVRLPRLERELKQLREESAHLREMRETNGLLQEELEGLQRKLGRQEKMQETL
  VGLELENERLLAKLQSWERLDQTMGLSIRTPEDLSRFVVELQQRELALKDKNSAVTSSARGLEKARQQLQEELRQ
  VSGQLLEERKKRETHEALARRLQKRVLLLTKERDGMRAILGSYDSELTPAEYSPQLTRRMREAEDMVQKVHSHSA
  EMEAQLSQALEELGGQKQRADMLEMELKMLKSQSSSAEQSFLFSREEADTLRLKVEELEGERSRLEEEKRMLEAQ
  LERRALQGDYDQSRTKVLHMSLNPTSVARQRLREDHSQLQAECERLRGLLRAMERGGTVPADLEAAAASLPSSKE
  VAELKKQVESAELKNQRLKEVFQTKIQEFRKACYTLTGYQIDITTENQYRLTSLYAEHPGDCLIFKATSPSGSKM
  QLLETEFSHTVGELIEVHLRRQDSIPAFLSSLTLELFSRQTVA

• Structural information:
  • Interpro: IPR008672  
  • PDB: 1GO4 4DZO
  • PDBsum: 1GO4 4DZO
  • DIP: 29654
  • STRING: ENSP00000385334
• Other Databases: GeneCards:  MAD1L1  Malacards:  MAD1L1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007094	mitotic spindle assembly checkpoint	IBA	biological process
GO:0051315	attachment of mitotic spindle microtubules to kinetochore	IBA	biological process
GO:0072686	mitotic spindle	IBA	cellular component
GO:0000776	kinetochore	IBA	cellular component
GO:0072686	mitotic spindle	IDA	cellular component
GO:0090235	regulation of metaphase plate congression	IDA	biological process
GO:0000776	kinetochore	IDA	cellular component
GO:0000776	kinetochore	IDA	colocalizes with
GO:0097431	mitotic spindle pole	IDA	colocalizes with
GO:0000776	kinetochore	IDA	colocalizes with
GO:0043515	kinetochore binding	IDA	molecular function
GO:0005635	nuclear envelope	IDA	colocalizes with
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:0007094	mitotic spindle assembly checkpoint	IEA	biological process
GO:0000776	kinetochore	IEA	cellular component
GO:0051301	cell division	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0005737	cytoplasm	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:0005856	cytoskeleton	IEA	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: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: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:1901990	regulation of mitotic cell cycle phase transition	IEA	biological process
GO:0048538	thymus development	IEA	biological process
GO:0042130	negative regulation of T cell proliferation	IEA	biological process
GO:0000776	kinetochore	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000922	spindle pole	IEA	cellular component
GO:0000922	spindle pole	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component
GO:0000777	condensed chromosome kinetochore	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0044615	nuclear pore nuclear basket	IDA	cellular component
GO:0043515	kinetochore binding	IDA	molecular function
GO:0007094	mitotic spindle assembly checkpoint	IDA	biological process
GO:0007093	mitotic cell cycle checkpoint	NAS	biological process
GO:0005813	centrosome	NAS	cellular component
GO:0005819	spindle	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05166	Human T-cell leukemia virus 1 infection
hsa05203	Viral carcinogenesis
hsa04110	Cell cycle
hsa04114	Oocyte meiosis
hsa04914	Progesterone-mediated oocyte maturation

Diseases

Associated diseases	References
Lymphoma	PMID:11423979
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray