| Gene Symbol |
MAD1L1
|
| Entrez Gene |
8379
|
| Alt Symbol |
MAD1, PIG9, TP53I9, TXBP181
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
MAD1 mitotic arrest deficient-like 1 (yeast)
|
| Other Description |
MAD1-like protein 1|mitotic arrest deficient 1-like protein 1|mitotic checkpoint MAD1 protein homolog|mitotic spindle assembly checkpoint protein MAD1|mitotic-arrest deficient 1, yeast, homolog-like 1|tax-binding protein 181|tumor protein p53 inducible protein 9
|
| Swissprots |
Q9UNH0 Q9Y6D9 Q86UM4 Q13312 B3KR41 Q75MI0
|
| Accessions |
AAP21876 AAS07503 EAL23947 EAW87219 EAW87220 Q9Y6D9 AF083811 AAD24498 AF123318 AAD20359 AK090959 BAG52253 AK310481 AK310831 AK314227 BC009964 AAH09964 BC018870 BG762406 BM818088 BQ684437 BQ687750 BU617803 EU831486 ACE87173 EU831573 ACE86492 U33822 AAC52059 XM_005249877 XP_005249934 XM_011515567 XP_011513869 XM_011515568 XP_011513870 XM_011515569 XP_011513871 XM_011515570 XP_011513872 XM_011515571 XP_011513873 NM_001013836 NP_001013858 NM_001013837 NP_001013859 NM_001304523 NP_001291452 NM_001304524 NP_001291453 NM_001304525 NP_001291454 NM_003550 NP_003541
|
| 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:0000269|PubMed:10049595, ECO:0000269|PubMed:12837246, ECO:0000269|PubMed:20133940}.
|
| Subcellular Location |
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.
|
| Tissue Specificity |
Expressed weakly at G0/G1 and highly at late S and G2/M phase.
|
| Top Pathways |
Cell cycle, Progesterone-mediated oocyte maturation, Viral carcinogenesis
|