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Rabbit Anti-STIL/FITC Conjugated antibody
background:
TAL1 disruption at 1p32, a common rearrangement in the T-cell acute lymphoblastic leukemia, usually results in the formation of a SCL interrupting locus (SIL)-TAL1 fusion product. SIL is an immediate early gene whose expression is associated with cell proliferation. The Sil protein exhibits ubiquitous expression in hematopoietic cell lines and tissues. However, Sil protein levels remain tightly regulated during the cell cycle, achieving peak levels in mitosis and diminishing on transition to G1 phase. Overexpression of Sil in primary adenocarcinomas predicts metastatic spread, especially in lung tumors with increased mitotic activity.
Function:
Immediate-early gene. Plays an important role in embryonic development as well as in cellular growth and proliferation; its long-term silencing affects cell survival and cell cycle distribution as well as decreases CDK1 activity correlated with reduced phosphorylation of CDK1. Plays a role as a positive regulator of the sonic hedgehog pathway, acting downstream of PTCH1.
Subunit:
Interacts with PIN1 via its WW domain. This interaction is dependent on STIL mitotic phosphorylation (By similarity).
Subcellular Location:
Cytoplasm, cytosol.
Tissue Specificity:
Expressed in all hematopoietic tissues and cell lines. Highly expressed in a variety of tumors characterized by increased mitotic activity with highest expression in lung cancer.
Post-translational modifications:
Phosphorylated following the activation of the mitotic checkpoint.
DISEASE:
Note=A chromosomal aberration involving STIL may be a cause of some T-cell acute lymphoblastic leukemias (T-ALL). A deletion at 1p32 between STIL and TAL1 genes leads to STIL/TAL1 fusion mRNA with STIL exon 1 slicing to TAL1 exon 3. As both STIL exon 1 and TAL1 exon 3 are 5'-untranslated exons, STIL/TAL1 fusion mRNA predicts a full length TAL1 protein under the control of the STIL promoter, leading to inappropriate TAL1 expression. In childhood T-cell malignancies (T-ALL), a type of defect such as STIL/TAL1 fusion is associated with a good prognosis. In cultured lymphocytes from healthy adults, STIL/TAL1 fusion mRNA may be detected after 7 days of culture.
Defects in STIL are the cause of microcephaly primary type 7 (MCPH7) [MIM:612703]. Microcephaly is defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits.
Database links:
Entrez Gene: 6491 Human
Entrez Gene: 2092 Mouse
Entrez Gene: 313506 Rat
Omim: 181590 Human
SwissProt: Q15468 Human
SwissProt: Q60988 Mouse
Unigene: 525198 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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