InnateDB Protein
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IDBP-292492.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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MAD1L1
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Protein Name
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MAD1 mitotic arrest deficient-like 1 (yeast)
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Synonyms
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MAD1; PIG9; TP53I9; TXBP181;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000385334
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InnateDB Gene
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IDBG-6719 (MAD1L1)
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Protein Structure
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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}.
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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.
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Disease Associations |
Note=Defects in MAD1L1 are involved in the development and/or progression of various types of cancer.
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Tissue Specificity |
Expressed weakly at G0/G1 and highly at late S and G2/M phase.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
49
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
3 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR008672
Spindle assembly checkpoint component Mad1
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PFAM |
PF05557
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9Y6D9
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PhosphoSite |
PhosphoSite-Q9Y6D9
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TrEMBL |
C9K086
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UniProt Splice Variant |
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Entrez Gene |
8379
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UniGene |
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RefSeq |
XP_005249934
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HUGO |
HGNC:6762
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OMIM |
602686
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CCDS |
CCDS43539
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HPRD |
04065
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IMGT |
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EMBL |
AC005282
AC006433
AC069288
AC104129
AC110781
AF083811
AF123318
BC009964
U33822
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GenPept |
AAC52059
AAD20359
AAD24498
AAH09964
AAP21876
AAS07503
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