Gene: KNL1

Alternate names for this Gene: AF15Q14|CASC5|CT29|D40|MCPH4|PPP1R55|Spc7|hKNL-1|hSpc105

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.

Gene is located in Chromosome: 15

Location in Chromosome : 15q15.1

Description of this Gene: kinetochore scaffold 1

Type of Gene: protein-coding

rs185649211 in KNL1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs763915472 in KNL1 gene and MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE PMID 26626498 2016 Refining the phenotype associated with CASC5 mutation.

PMID 22983954 2012 Kinetochore KMN network gene CASC5 mutated in primary microcephaly.

rs4924487 in KNL1 gene and Prostate carcinoma PMID 29892016 2018 Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.

rs7171260 in KNL1 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.