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Protein Page:
STIL

Overview
STIL 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. 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). 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. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Cell cycle regulation; Cell development/differentiation; Oncoprotein
Chromosomal Location of Human Ortholog: 1p33
Cellular Component: centriole; centrosome; cytoplasm; cytosol
Molecular Function: protein binding
Biological Process: cell proliferation; centrosome duplication; determination of left/right symmetry; embryonic axis specification; floor plate development; forebrain development; heart looping; in utero embryonic development; mitotic spindle organization and biogenesis; multicellular organism growth; negative regulation of apoptosis; neural tube closure; neural tube development; notochord development; regulation of centriole replication; smoothened signaling pathway
Disease: Microcephaly 7, Primary, Autosomal Recessive
Reference #:  Q15468 (UniProtKB)
Alt. Names/Synonyms: DKFZp686O09161; MCPH7; SCL-interrupting locus protein; SCL/TAL1 interrupting locus; SIL; STIL; TAL-1-interrupting locus protein
Gene Symbols: STIL
Molecular weight: 142,955 Da
Basal Isoelectric point: 6.01  Predict pI for various phosphorylation states
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STIL

Protein Structure Not Found.
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