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Aliases for STIL Gene

Aliases for STIL Gene

  • SCL/TAL1 Interrupting Locus 2 3 5
  • TAL-1-Interrupting Locus Protein 3 4
  • SIL 3 4
  • SCL-Interrupting Locus Protein 3
  • TAL1 (SCL) Interrupting Locus 2
  • MCPH7 3

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 Precursor T-Cell Acute Lymphoblastic Leukemia. 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 (PubMed:16024801, PubMed:9372240). Plays an important role in the regulation of centriole duplication. Required for the onset of procentriole formation and proper mitotic progression. During procentriole formation, is essential for the correct loading of SASS6 and CENPJ to the base of the procentriole to initiate procentriole assembly (PubMed:22020124).

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

Enhancers for STIL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F047351 0.8 ENCODE 5.7 -36.8 -36799 1.1 BCOR HDAC1 PKNOX1 ZNF146 ZMYM3 BACH1 RELA ZNF316 SCRT2 ADNP STIL FOXE3 GC01P047350 GC01M047395
GH01F047312 1.1 ENCODE 0.8 +0.7 742 3.1 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 FOS EFCAB14-AS1 CMPK1 ENSG00000272491 FOXE3 STIL GC01M047303
GH01F047317 0.9 ENCODE 0.8 -3.3 -3278 1.8 ELF3 ATF1 MLX ARID4B ZNF48 RARA ZNF121 GATA4 FOS CREM ENSG00000226252 GC01M047322 STIL
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around STIL on UCSC Golden Path with GeneCards custom track

Promoters for STIL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000282281 1080 2600 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 FOS

Genomic Location for STIL Gene

Chromosome:
1
Start:
47,250,139 bp from pter
End:
47,314,781 bp from pter
Size:
64,643 bases
Orientation:
Minus strand

Genomic View for STIL Gene

Genes around STIL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STIL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    • Homodimer (PubMed:22020124). Interacts with PIN1 via its WW domain. This interaction is dependent on STIL mitotic phosphorylation (By similarity). Interacts with CENPJ (PubMed:22020124, PubMed:25385835). Interacts with RBM14 and this interaction interferes with the interaction of STIL with CENPJ (PubMed:25385835). Forms a complex with CENPJ and SASS6 (PubMed:22020124).

    Three dimensional structures from OCA and Proteopedia for STIL Gene

    Alternative splice isoforms for STIL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STIL Gene

Post-translational modifications for STIL Gene

No data available for DME Specific Peptides for STIL Gene

Domains & Families 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 (PubMed:16024801, PubMed:9372240). Plays an important role in the regulation of centriole duplication. Required for the onset of procentriole formation and proper mitotic progression. During procentriole formation, is essential for the correct loading of SASS6 and CENPJ to the base of the procentriole to initiate procentriole assembly (PubMed:22020124).
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

Human Phenotype Ontology for STIL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for STIL Gene

MGI Knock Outs for STIL:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

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

Localization for STIL Gene

Subcellular locations from UniProtKB/Swiss-Prot for STIL Gene

Cytoplasm, cytosol. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for STIL gene
Compartment Confidence
cytoskeleton 5
cytosol 4
nucleus 3
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 IEA,IDA 22020124
GO:0005829 cytosol IEA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with STIL: view

Pathways & Interactions 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

SIGNOR curated interactions for STIL Gene

Activates:

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:

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and SAGE for STIL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for STIL Gene

This gene is overexpressed in Pancreatic juice (47.2) and Monocytes (21.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for STIL Gene



Protein tissue co-expression partners for STIL Gene

NURSA nuclear receptor signaling pathways regulating expression of STIL Gene:

STIL

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 expression patterns with STIL: view

Primer 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 34 35
  • 99.2 (n)
dog
(Canis familiaris)
Mammalia STIL 34 35
  • 88.12 (n)
cow
(Bos Taurus)
Mammalia STIL 34 35
  • 87.52 (n)
mouse
(Mus musculus)
Mammalia Stil 34 16 35
  • 81.35 (n)
rat
(Rattus norvegicus)
Mammalia Stil 34
  • 80.35 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 61 (a)
OneToMany
-- 35
  • 45 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia STIL 35
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves STIL 34 35
  • 63.44 (n)
lizard
(Anolis carolinensis)
Reptilia STIL 35
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stil 34
  • 56.16 (n)
Str.1876 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.7038 34
zebrafish
(Danio rerio)
Actinopterygii stil 34 35
  • 50.13 (n)
sill 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 34 (a)
OneToOne
Species where no ortholog for STIL was found in the sources mined by GeneCards:
  • 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
rs398122976 Microcephaly 7, primary, autosomal recessive (MCPH7) [MIM:612703], Pathogenic 47,269,857(-) TAGCT(G/T)GTTTT nc-transcript-variant, reference, missense
rs121918609 Pathogenic 47,251,285(-) TCACT(C/T)AACAT nc-transcript-variant, reference, utr-variant-3-prime, stop-gained
rs199422206 Pathogenic 47,262,902(-) TATTG(A/G)TAAGA splice-donor-variant
rs199422207 Pathogenic 47,251,345(-) TCTTA(-/G)TAAAG nc-transcript-variant, reference, utr-variant-3-prime, frameshift-variant
rs863225464 Pathogenic 47,301,556(-) GGTGC(A/G)ATTCA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv822531 CNV gain 20364138
nsv441692 CNV gain 18776908
nsv1160846 CNV duplication 26073780
esv3585954 CNV gain 21293372
esv3578138 CNV gain 25503493
esv3448549 CNV insertion 20981092
esv33183 CNV gain 17666407

Variation tolerance for STIL Gene

Residual Variation Intolerance Score: 42.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.62; 45.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for STIL Gene

Human Gene Mutation Database (HGMD)
STIL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STIL

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

Disorders for STIL Gene

MalaCards: The human disease database

(8) MalaCards diseases for STIL Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search STIL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

STIL_HUMAN
  • 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.
  • 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 splicing 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. {ECO:0000269 PubMed:11390401, ECO:0000269 PubMed:12681356, ECO:0000269 PubMed:1311214, ECO:0000269 PubMed:14504110, ECO:0000269 PubMed:1922059, ECO:0000269 PubMed:2209547, ECO:0000269 PubMed:2255914}.

Relevant External Links for STIL

Genetic Association Database (GAD)
STIL
Human Genome Epidemiology (HuGE) Navigator
STIL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
STIL
genes like me logo Genes that share disorders with STIL: view

No data available for Genatlas for STIL Gene

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 22 64
  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 64
  3. RBM14 prevents assembly of centriolar protein complexes and maintains mitotic spindle integrity. (PMID: 25385835) Shiratsuchi G. … Kitagawa D. (EMBO J. 2015) 3 4 64
  4. Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations. (PMID: 22989186) Papari E. … Najmabadi H. (Clin. Genet. 2013) 3 4 64
  5. The human microcephaly protein STIL interacts with CPAP and is required for procentriole formation. (PMID: 22020124) Tang C.J. … Tang T.K. (EMBO J. 2011) 3 4 64

Products for STIL Gene

Sources for STIL Gene

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