SCL-interrupting locus protein; TAL-1-interrupting locus protein (STIL SIL)
(Redirected from SIL PROTEIN)
Function
- immediate-early gene protein
- role in embryonic development, cellular growth & proliferation
- its long-term silencing affects cell survival & cell cycle distribution as well as decreases CDC2 activity correlated with reduced phosphorylation of CDC2.
- role as a positive regulator of the sonic hedgehog pathway, acting downstream of PTCH1
- interacts with PIN1 via its WW domain, dependent on STIL mitotic phosphorylation (putative)
- phosphorylated following the activation of the mitotic checkpoint
Compartment
Alternative splicing
named isoforms=2
Expression
- expressed in all hematopoietic tissues & cell lines
- down-regulated when cell proliferation ceases
- accumulates during G2 phase & falls at completion of the cell cycle
Pathology
- highly expressed in a variety of tumors characterized by increased mitotic activity with highest expression in lung cancer
- chromosomal deletion at 1p32 between STIL & TAL1 genes leads to STIL/TAL1 fusion mRNA with STIL exon 1 slicing to TAL1 exon 3 in some T-cell acute lymphoblastic leukemias (T-ALL)
- fusion protein with SCL protein seen in 1;14 translocations of hematopoietic stem cell leukemias[3]
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q15468.html
- ↑ Atlas of Genetics & Cytogenetics in Oncology & Haematology http://atlasgeneticsoncology.org/Genes/SILID524ch1p32.html
- ↑ 3.0 3.1 Aplan PD, Lombardi DP, Ginsberg AM, Cossman J, Bertness VL, Kirsch IR. Disruption of the human SCL locus by "illegitimate" V-(D)-J recombinase activity. Science. 1990 Dec 7;250(4986):1426-9. PMID: https://pubmed.ncbi.nlm.nih.gov/2255914