KNL1

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]

Description

Kinetochore scaffold 1

Tissue specificity

Group enriched (bone marrow, lymphoid tissue, testis)

Subcell location

Nucleoplasm, Nuclear bodies

Predicted location

Intracellular

Protein family

Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)

Chromosome

15 (40594020 - 40664342)

Ensembl ID

ENSG00000137812  (ver. 103.38)

Orthologs

Mouse Knl1: ENSMUSG00000027326

UniProt

Q8NG31

neXtProt

NX_Q8NG31

Human splice variants
Mouse splice variants

Protein structure