KNL1, Official Symbol KNL1provided by HGNC Official Full Name kinetochore scaffold 1provided by HGNC Primary source HGNC:HGNC:24054 See related Ensembl:ENSG00000137812 MIM:609173; AllianceGenome:HGNC:24054 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as D40; CT29; Spc7; CASC5; MCPH4; hKNL-1; AF15Q14; PPP1R55; hSpc105 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] Expression Biased expression in testis (RPKM 14.1), bone marrow (RPKM 2.9) and 6 other tissues See more Orthologs mouse all