| Gene Symbol |
KNL1
|
| Gene Synonyms |
D40 CT29 Spc7 CASC5 MCPH4 hKNL-1 AF15Q14 PPP1R55 hSpc105 |
| Gene Full Name |
kinetochore scaffold 1 |
| Gene Summary |
The protein encoded by this gene is a component of the multiprotein assembly that is required for creation of kinetochore-microtubule attachments and chromosome segregation. The encoded protein functions as a scaffold for proteins that influence the spindle assembly checkpoint during the eukaryotic cell cycle and it interacts with at least five different kinetochore proteins and two checkpoint kinases. In adults, this gene is predominantly expressed in normal testes, various cancer cell lines and primary tumors from other tissues and is ubiquitously expressed in fetal tissues. This gene was originally identified as a fusion partner with the mixed-lineage leukemia (MLL) gene in t(11;15)(q23;q14). Mutations in this gene cause autosomal recessive primary microcephaly-4 (MCPH4). Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jan 2013] |
| Alternative Names |
Protein D40/AF15q14
AF15Q14
ALL1 fused gene from chromosome 15q14
Blinkin bub linking kinetochore protein
Cancer susceptibility candidate 5
Cancer susceptibility candidate gene 5 protein
Cancer/testis antigen 29
CT29
D40
hKNL 1
hSpc105
KIAA1570
Kinetochore null 1 homolog
Kinetochore null protein 1
Kinetochore scaffold 1
KNL1 |
| Molecular Weight(MW) |
265 kDa |
| Cellular Localization |
Centromere,Chromosome,Cytoplasm,Kinetochore,Nucleus. |