KNL1, kinetochore scaffold 1

KNL1, kinetochore scaffold 1

• 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]

• Gene Synonyms (AF15Q14, CASC5, CT29, D40, MCPH4, PPP1R55, Spc7, hKNL-1, hSpc105, kinetochore scaffold 1, ALL1-fused gene from chromosome 15q14 protein, blinkin, bub-linking kinetochore protein, cancer susceptibility candidate 5, cancer susceptibility candidate gene 5 protein, cancer/testis antigen 29, kinetochore null 1 homolog, kinetochore-null protein 1, microcephaly, primary autosomal recessive 4, protein phosphatase 1, regulatory subunit 55,)
• NCBI Gene ID: 57082
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q8NG31
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

kinetochore scaffold 1 interacts with:

• casein kinase 1, delta
  cell division cycle 20
  centromere protein O
  centrosomal protein 120
  DSN1 component of MIS12 kinetochore complex
  egl-9 family hypoxia inducible factor 3
  F-box protein 38
  kinesin family member 18A
  kinetochore scaffold 1
  MIS12 kinetochore complex component
  MIS12 kinetochore complex component
  NDC80 kinetochore complex component
  NUF2 component of NDC80 kinetochore complex
  shugoshin 2A
  SPC24 component of NDC80 kinetochore complex
  SPC25 component of NDC80 kinetochore complex

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.