InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: STIL

Summary

InnateDB Protein

IDBP-98273.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

STIL

Protein Name

SCL/TAL1 interrupting locus

Synonyms

MCPH7; SIL;

Species

Homo sapiens

Ensembl Protein

ENSP00000337367

InnateDB Gene

IDBG-98269 (STIL)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:16024801, ECO:0000269PubMed:9372240}.

Subcellular Localization

Cytoplasm, cytosol {ECO:0000250}.

Disease Associations

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.Microcephaly 7, primary, autosomal recessive (MCPH7) [MIM:612703]: A disease 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. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. {ECO:0000269PubMed:19215732}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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. {ECO:0000269PubMed:15107824, ECO:0000269PubMed:1922059}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.

Experimentally validated
Total	8 [view]
Protein-Protein	6 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0000578	embryonic axis specification
GO:0001701	in utero embryonic development
GO:0001843	neural tube closure
GO:0001947	heart looping
GO:0007224	smoothened signaling pathway
GO:0007368	determination of left/right symmetry
GO:0008283	cell proliferation
GO:0021915	neural tube development
GO:0030900	forebrain development
GO:0030903	notochord development
GO:0033504	floor plate development
GO:0035264	multicellular organism growth
GO:0043066	negative regulation of apoptotic process