STIL

SCL/TAL1 interrupting locus
Identifiers
Symbols STIL ; MCPH7; SIL
External IDs OMIM: 181590 MGI: 107477 HomoloGene: 2283 GeneCards: STIL Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 6491 20460
Ensembl ENSG00000123473 ENSMUSG00000028718
UniProt Q15468 Q60988
RefSeq (mRNA) NM_001048166 NM_001304551
RefSeq (protein) NP_001041631 NP_001291480
Location (UCSC) Chr 1:
47.25 – 47.31 Mb
Chr 4:
115 – 115.04 Mb
PubMed search

SCL-interrupting locus protein is a protein that in humans is encoded by the STIL gene.[1][2]

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.[2]

Homozygous mutations in the STIL gene cause primary microcephaly (small brain) in humans.

References

  1. Brown L, Cheng JT, Chen Q, Siciliano MJ, Crist W, Buchanan G, Baer R (Nov 1990). "Site-specific recombination of the tal-1 gene is a common occurrence in human T cell leukemia". EMBO J 9 (10): 3343–51. PMC 552072. PMID 2209547.
  2. 1 2 "Entrez Gene: STIL SCL/TAL1 interrupting locus".

Further reading

     Kumar A, Girimaji SC, Duvvari MR, Blanton SH (2009): Mutations in STIL,    
     encoding a pericentriolar and centrosomal protein, cause primary   
     microcephaly. American Journal of Human Genetics 84:286-290.


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