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Aliases for STIL Gene

Aliases for STIL Gene

  • SCL/TAL1 Interrupting Locus 2 3
  • SIL 3 4 6
  • TAL-1-Interrupting Locus Protein 3 4
  • MCPH7 3 6
  • SCL-Interrupting Locus Protein 3
  • TAL1 (SCL) Interrupting Locus 2

External Ids for STIL Gene

Previous HGNC Symbols for STIL Gene

  • SIL

Previous GeneCards Identifiers for STIL Gene

  • GC01M047428
  • GC01M047488
  • GC01M047715
  • GC01M045832

Summaries for STIL Gene

Entrez Gene Summary for STIL Gene

  • 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for STIL Gene

STIL (SCL/TAL1 Interrupting Locus) is a Protein Coding gene. Diseases associated with STIL include microcephaly 7, primary, autosomal recessive and microcephaly, primary autosomal recessive. Among its related pathways are Signaling events mediated by the Hedgehog family.

UniProtKB/Swiss-Prot for STIL Gene

  • 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.

Gene Wiki entry for STIL Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STIL Gene

Genomics for STIL Gene

Regulatory Elements for STIL Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for STIL Gene

Start:
47,250,139 bp from pter
End:
47,314,147 bp from pter
Size:
64,009 bases
Orientation:
Minus strand

Genomic View for STIL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for STIL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STIL Gene

Proteins for STIL Gene

  • Protein details for STIL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15468-STIL_HUMAN
    Recommended name:
    SCL-interrupting locus protein
    Protein Accession:
    Q15468
    Secondary Accessions:
    • Q5T0C5
    • Q68CN9

    Protein attributes for STIL Gene

    Size:
    1287 amino acids
    Molecular mass:
    142955 Da
    Quaternary structure:
    • Interacts with PIN1 via its WW domain. This interaction is dependent on STIL mitotic phosphorylation (By similarity).

    Alternative splice isoforms for STIL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STIL Gene

Proteomics data for STIL Gene at MOPED

Post-translational modifications for STIL Gene

  • Phosphorylated following the activation of the mitotic checkpoint.
  • Ubiquitination at Lys334, Lys755, Lys954, and Lys1000
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for STIL Gene

Domains for STIL Gene

Protein Domains for STIL Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with STIL: view

No data available for Gene Families and UniProtKB/Swiss-Prot for STIL Gene

Function for STIL Gene

Molecular function for STIL Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction: Down-regulated when cell proliferation ceased. Accumulates during G2 phase and falls at completion of the cell cycle.

Gene Ontology (GO) - Molecular Function for STIL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22020124
genes like me logo Genes that share ontologies with STIL: view
genes like me logo Genes that share phenotypes with STIL: view

Animal Models for STIL Gene

MGI Knock Outs for STIL:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for STIL Gene

Localization for STIL Gene

Subcellular locations from UniProtKB/Swiss-Prot for STIL Gene

Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for STIL Gene COMPARTMENTS Subcellular localization image for STIL gene
Compartment Confidence
cytoskeleton 5
nucleus 3
cytosol 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for STIL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 22349705
GO:0005813 centrosome IDA 21399614
GO:0005814 centriole IDA 22349705
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with STIL: view

Pathways for STIL Gene

genes like me logo Genes that share pathways with STIL: view

Pathways by source for STIL Gene

1 BioSystems pathway for STIL Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for STIL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000578 embryonic axis specification ISS --
GO:0001701 in utero embryonic development ISS --
GO:0001843 neural tube closure ISS --
GO:0001947 heart looping ISS --
GO:0007052 mitotic spindle organization IMP 22349705
genes like me logo Genes that share ontologies with STIL: view

Transcripts for STIL Gene

Unigene Clusters for STIL Gene

SCL/TAL1 interrupting locus:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for STIL

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for STIL

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for STIL Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19 ^ 20 ^
SP1: - -
SP2: -
SP3:
SP4: -
SP5:
SP6:
SP7:

ExUns: 21
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for STIL Gene

GeneLoc Exon Structure for
STIL
ECgene alternative splicing isoforms for
STIL

Expression for STIL Gene

mRNA expression in normal human tissues for STIL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for STIL Gene

SOURCE GeneReport for Unigene cluster for STIL Gene Hs.525198

mRNA Expression by UniProt/SwissProt for STIL Gene

Q15468-STIL_HUMAN
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.
genes like me logo Genes that share expressions with STIL: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for STIL Gene

Orthologs for STIL Gene

This gene was present in the common ancestor of chordates.

Orthologs for STIL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia STIL 35
  • 99.2 (n)
  • 98.45 (a)
STIL 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia STIL 35
  • 87.52 (n)
  • 81.09 (a)
STIL 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia STIL 35
  • 88.12 (n)
  • 82.61 (a)
STIL 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Stil 35
  • 81.35 (n)
  • 75.2 (a)
Stil 16
Stil 36
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia STIL 36
  • 56 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 61 (a)
OneToMany
-- 36
  • 45 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Stil 35
  • 80.35 (n)
  • 74.27 (a)
chicken
(Gallus gallus)
Aves STIL 35
  • 63.44 (n)
  • 54.44 (a)
STIL 36
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia STIL 36
  • 47 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7038 35
tropical clawed frog
(Silurana tropicalis)
Amphibia stil 35
  • 56.16 (n)
  • 47.93 (a)
Str.1876 35
zebrafish
(Danio rerio)
Actinopterygii sill 35
stil 35
  • 50.13 (n)
  • 43.89 (a)
stil 36
  • 36 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
OneToOne
Species with no ortholog for STIL:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for STIL Gene

ENSEMBL:
Gene Tree for STIL (if available)
TreeFam:
Gene Tree for STIL (if available)

Paralogs for STIL Gene

No data available for Paralogs for STIL Gene

Variants for STIL Gene

Sequence variations from dbSNP and Humsavar for STIL Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs1022458 -- 47,274,766(-) TTACC(A/G)TTTGA intron-variant
rs1022459 -- 47,274,721(-) AACTT(C/T)AATGG intron-variant
rs1022460 -- 47,274,703(-) TTTTT(A/T)AATGG intron-variant
rs1028646 -- 47,252,686(-) ACTTA(C/T)TAAAG intron-variant
rs1028647 -- 47,252,646(-) TGTGT(C/T)TGATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for STIL Gene

Variant ID Type Subtype PubMed ID
nsv441692 CNV CNV 18776908
nsv822531 CNV Gain 20364138
esv273293 CNV Insertion 20981092
esv33183 CNV Gain 17666407

Relevant External Links for STIL Gene

HapMap Linkage Disequilibrium report
STIL
Human Gene Mutation Database (HGMD)
STIL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STIL Gene

Disorders for STIL Gene

(1) OMIM Diseases for STIL Gene (181590)

UniProtKB/Swiss-Prot

STIL_HUMAN
  • 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:0000269 PubMed:19215732, ECO:0000269 PubMed:22989186}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for STIL Gene

(5) Novoseek inferred disease relationships for STIL Gene

Disease -log(P) Hits PubMed IDs
t-all 88 17
leukemogenesis 64.3 1
minimal residual disease 50.3 1
acute leukemia 36.9 1
leukemia 23.1 1

Relevant External Links for STIL

GeneTests
STIL
GeneReviews
STIL
Genetic Association Database (GAD)
STIL
Human Genome Epidemiology (HuGE) Navigator
STIL
genes like me logo Genes that share disorders with STIL: view

Publications for STIL Gene

  1. Measurement of SIL-TAL1 fusion gene transcripts associated with human T-cell lymphocytic leukemia by real-time reverse transcriptase-PCR. (PMID: 12681356) Curry J.D. … Smith M.T. (Leuk. Res. 2003) 3 4 23
  2. Site-specific recombination of the tal-1 gene is a common occurrence in human T cell leukemia. (PMID: 2209547) Brown L. … Baer R. (EMBO J. 1990) 2 3 4
  3. Disruption of the human SCL locus by 'illegitimate' V-(D)-J recombinase activity. (PMID: 2255914) Aplan P.D. … Kirsch I.R. (Science 1990) 3 4
  4. Involvement of the putative hematopoietic transcription factor SCL in T-cell acute lymphoblastic leukemia. (PMID: 1311214) Aplan P.D. … Kirsch I.R. (Blood 1992) 3 4
  5. Structural characterization of SIL, a gene frequently disrupted in T- cell acute lymphoblastic leukemia. (PMID: 1922059) Aplan P.D. … Kirsch I.R. (Mol. Cell. Biol. 1991) 3 4

Products for STIL Gene

Sources for STIL Gene

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