Description
Product Characteristics:
Part of the MIS12 complex, which may be fundamental for kinetochore formation and proper chromosome segregation during mitosis. Four known isoforms exist.
Subcellular location: Nucleus
Synonyms: 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, KNL1, CASC5_HUMAN.
Target Information: 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]