STIL (Entrez ID: 6491)

Entrez Gene ID 6491
Official Gene Symbol STIL (GeneCards)
Full name STIL, centriolar assembly protein
Location 1p33
Other ids Vega : OTTHUMG00000007851
MIM : 181590
HGNC : HGNC:10879
Ensembl : ENSG00000123473
Other names SIL, MCPH7
Summary This gene encodes a cytoplasmic protein implicated in regulation of the mitotic spindle checkpoint, a regulatory pathway that monitors chromosome segregation during cell division to ensure the proper distribution of chromosomes to daughter cells. The protein is phosphorylated in mitosis and in response to activation of the spindle checkpoint, and disappears when cells transition to G1 phase. It interacts with a mitotic regulator, and its expression is required to efficiently activate the spindle checkpoint. It is proposed to regulate Cdc2 kinase activity during spindle checkpoint arrest. Chromosomal deletions that fuse this gene and the adjacent locus commonly occur in T cell leukemias, and are thought to arise through illegitimate V-(D)-J recombination events. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Variants

Found 2 variants in this database.