Homo sapiens Protein: MAD1L1
Summary
InnateDB Protein IDBP-292492.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MAD1L1
Protein Name MAD1 mitotic arrest deficient-like 1 (yeast)
Synonyms MAD1; PIG9; TP53I9; TXBP181;
Species Homo sapiens
Ensembl Protein ENSP00000385334
InnateDB Gene IDBG-6719 (MAD1L1)
Protein Structure
UniProt Annotation
Function Component of the spindle-assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. May recruit MAD2L1 to unattached kinetochores. Has a role in the correct positioning of the septum. Required for anchoring MAD2L1 to the nuclear periphery. Binds to the TERT promoter and represses telomerase expression, possibly by interfering with MYC binding. {ECO:0000269PubMed:10049595, ECO:0000269PubMed:12837246, ECO:0000269PubMed:20133940}.
Subcellular Localization Nucleus. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Note=From the beginning to the end of mitosis, it is seen to move from a diffusely nuclear distribution to the centrosome, to the spindle midzone and finally to the midbody. Colocalizes with NEK2 at the kinetochore.
Disease Associations Note=Defects in MAD1L1 are involved in the development and/or progression of various types of cancer.
Tissue Specificity Expressed weakly at G0/G1 and highly at late S and G2/M phase.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 49 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 49 [view]
Protein-Protein 49 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0000089 mitotic metaphase
GO:0000090 mitotic anaphase
GO:0000093 mitotic telophase
GO:0000278 mitotic cell cycle
GO:0007067 mitotic nuclear division
GO:0007093 mitotic cell cycle checkpoint
GO:0007094 mitotic spindle assembly checkpoint
GO:0090235 regulation of metaphase plate congression
Cellular Component
GO:0000776 kinetochore
GO:0000777 condensed chromosome kinetochore
GO:0005634 nucleus
GO:0005643 nuclear pore
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005819 spindle
GO:0005829 cytosol
GO:0015629 actin cytoskeleton
GO:0072686 mitotic spindle
Protein Structure and Domains
PDB ID
InterPro IPR008672 Spindle assembly checkpoint component Mad1
PFAM PF05557
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9Y6D9
PhosphoSite PhosphoSite-Q9Y6D9
TrEMBL C9K086
UniProt Splice Variant
Entrez Gene 8379
UniGene
RefSeq XP_005249934
HUGO HGNC:6762
OMIM 602686
CCDS CCDS43539
HPRD 04065
IMGT
EMBL AC005282 AC006433 AC069288 AC104129 AC110781 AF083811 AF123318 BC009964 U33822
GenPept AAC52059 AAD20359 AAD24498 AAH09964 AAP21876 AAS07503