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Aliases for STIL Gene

Aliases for STIL Gene

  • STIL, Centriolar Assembly Protein 2 3 5
  • TAL-1-Interrupting Locus Protein 3 4
  • SCL/TAL1 Interrupting Locus 2 3
  • 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 (STIL, Centriolar Assembly Protein) 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

Additional gene information for STIL Gene

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

Genomics for STIL Gene

GeneHancer (GH) Regulatory Elements for STIL Gene

Promoters and enhancers for STIL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J047312 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.7 742 3.1 HDGF PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 STIL EFCAB14-AS1 NSUN4 MOB3C CMPK1 ENSG00000272491 LINC01389 FOXE3 GC01M047303
GH01J047351 Enhancer 0.8 ENCODE 5.7 -36.8 -36799 1.1 HDAC1 MEIS2 ZNF146 PKNOX1 BACH1 PYGO2 BATF IRF4 RELA ZNF316 GC01P047350 STIL FOXE3 CMPK1 GC01M047395
GH01J047317 Enhancer 0.7 ENCODE 0.7 -3.3 -3278 1.8 BCOR CTCF ARNT NFATC3 ZNF664 ZNF121 ZNF316 FOS SMARCA5 ZBTB2 ENSG00000226252 STIL GC01M047322
GH01J047320 Enhancer 0.6 dbSUPER 0.4 -5.8 -5837 0.9 SMARCE1 BCOR LEF1 ARNT DPF2 ATF4 EGR1 SMARCA4 IKZF1 KDM1A TAL1 ENSG00000226252 GC01M047322 STIL
GH01J047289 Enhancer 0.7 ENCODE 0.3 +25.3 25286 0.8 CEBPG BATF IRF4 ATF7 ETV6 IKZF2 RUNX3 CREM TRIM22 JUNB GC01M047289 GC01M047285 STIL
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around STIL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the STIL gene promoter:
  • FOXC1
  • LCR-F1
  • c-Rel
  • c-Myb
  • Pax-5
  • Gfi-1
  • Bach1
  • IRF-2
  • GR-alpha
  • GR

Genomic Locations for STIL Gene

Genomic Locations for STIL Gene
chr1:47,250,139-47,314,781
(GRCh38/hg38)
Size:
64,643 bases
Orientation:
Minus strand
chr1:47,715,811-47,779,819
(GRCh37/hg19)
Size:
64,009 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

  • Ubiquitinated.
  • Phosphorylated following the activation of the mitotic checkpoint.
  • Ubiquitination at isoforms=21000, posLast=954954, posLast=755755, and isoforms=2334
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for STIL Gene

Domains & Families for STIL Gene

Gene Families for STIL Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

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 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

Clone Products

  • Addgene plasmids for STIL

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

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,IEA 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

Drugs & Compounds for STIL Gene

No Compound Related Data Available

Transcripts for STIL Gene

Unigene Clusters for STIL Gene

SCL/TAL1 interrupting locus:
Representative Sequences:

Clone Products

  • Addgene plasmids for STIL

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 CGAP 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, 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.

Evidence on tissue expression from TISSUES for STIL Gene

  • Bone marrow(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for STIL Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • pelvis
  • ureter
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with STIL: view

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 33
  • 99.2 (n)
OneToOne
dog
(Canis familiaris)
Mammalia STIL 34 33
  • 88.12 (n)
OneToOne
cow
(Bos Taurus)
Mammalia STIL 34 33
  • 87.52 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Stil 16 34 33
  • 81.35 (n)
rat
(Rattus norvegicus)
Mammalia Stil 33
  • 80.35 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 61 (a)
OneToMany
-- 34
  • 45 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia STIL 34
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves STIL 34 33
  • 63.44 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia STIL 34
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stil 33
  • 56.16 (n)
Str.1876 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.7038 33
zebrafish
(Danio rerio)
Actinopterygii stil 34 33
  • 50.13 (n)
OneToOne
sill 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for STIL: view image

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 Variation AA Info Type
rs10789505 benign, likely-benign, not specified, Primary Microcephaly, Recessive 47,281,006(-) G/C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs11211487 likely-benign, Primary Microcephaly, Recessive 47,250,559(-) C/A/T 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs11211488 likely-benign, Primary Microcephaly, Recessive 47,250,820(-) A/G 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs121918609 pathogenic, Primary autosomal recessive microcephaly 7 47,251,285(-) G/A/C 3_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant, stop_gained
rs13376465 likely-benign, Primary Microcephaly, Recessive 47,314,021(-) C/T genic_upstream_transcript_variant, intron_variant

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

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

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)

Additional Variant Information for STIL Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for STIL Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
microcephaly 7, primary, autosomal recessive
  • mcph7
precursor t-cell acute lymphoblastic leukemia
  • precursor t-cell acute lymphoblastic leukemia/lymphoma
microcephaly
  • microcephalus
lobar holoprosencephaly
holoprosencephaly
  • holoprosencephaly sequence
- 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
  • 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}.
  • 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.

Additional Disease Information for STIL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 JD … Smith MT (Leukemia research 2003) 3 4 22 58
  2. Structural characterization of SIL, a gene frequently disrupted in T-cell acute lymphoblastic leukemia. (PMID: 1922059) Aplan PD … Kirsch IR (Molecular and cellular biology 1991) 2 3 4 58
  3. Site-specific recombination of the tal-1 gene is a common occurrence in human T cell leukemia. (PMID: 2209547) Brown L … Baer R (The EMBO journal 1990) 2 3 4 58
  4. RBM14 prevents assembly of centriolar protein complexes and maintains mitotic spindle integrity. (PMID: 25385835) Shiratsuchi G … Kitagawa D (The EMBO journal 2015) 3 4 58
  5. Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations. (PMID: 22989186) Papari E … Najmabadi H (Clinical genetics 2013) 3 4 58

Products for STIL Gene

Sources for STIL Gene

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