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{{Infobox_gene}}
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'''SCL-interrupting locus protein''' is a [[protein]] that in humans is encoded by the ''STIL'' [[gene]].<ref name="pmid2209547">{{cite journal | vauthors = Brown L, Cheng JT, Chen Q, Siciliano MJ, Crist W, Buchanan G, Baer R | title = Site-specific recombination of the tal-1 gene is a common occurrence in human T cell leukemia | journal = EMBO J | volume = 9 | issue = 10 | pages = 3343–51 |date=Nov 1990 | pmid = 2209547 | pmc = 552072 | doi =  }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: STIL SCL/TAL1 interrupting locus| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6491| accessdate = }}</ref>
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{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = SCL/TAL1 interrupting locus
| HGNCid = 10879
| Symbol = STIL
| AltSymbols =; SIL; DKFZp686O09161
| OMIM = 181590
| ECnumber = 
| Homologene = 2283
| MGIid = 107477
| GeneAtlas_image1 = PBB_GE_STIL_205339_at_tn.png
| Function =
| Component =
| Process = {{GNF_GO|id=GO:0007275 |text = multicellular organismal development}} {{GNF_GO|id=GO:0008283 |text = cell proliferation}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 6491
    | Hs_Ensembl = ENSG00000123473
    | Hs_RefseqProtein = NP_001041631
    | Hs_RefseqmRNA = NM_001048166
    | Hs_GenLoc_db =
    | Hs_GenLoc_chr = 1
    | Hs_GenLoc_start = 47488401
    | Hs_GenLoc_end = 47552406
    | Hs_Uniprot = Q15468
    | Mm_EntrezGene = 20460
    | Mm_Ensembl = ENSMUSG00000028718
    | Mm_RefseqmRNA = NM_009185
    | Mm_RefseqProtein = NP_033211
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = 4
    | Mm_GenLoc_start = 114498091
    | Mm_GenLoc_end = 114541128
    | Mm_Uniprot = Q60988
  }}
}}
'''SCL/TAL1 interrupting locus''', also known as '''STIL''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: STIL SCL/TAL1 interrupting locus| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6491| accessdate = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: STIL SCL/TAL1 interrupting locus| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6491| accessdate = }}</ref>
| summary_text = 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 recombination events. Multiple transcript variants encoding different isoforms have been found for this gene.<ref name="entrez" />
}}
}}
Homozygous mutations in the STIL gene cause primary microcephaly (small brain) in humans.


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal | author=Aplan PD, Lombardi DP, Reaman GH, ''et al.'' |title=Involvement of the putative hematopoietic transcription factor SCL in T-cell acute lymphoblastic leukemia. |journal=Blood |volume=79 |issue= 5 |pages= 1327-33 |year= 1992 |pmid= 1311214 |doi=  }}
*{{cite journal   |vauthors=Aplan PD, Lombardi DP, Reaman GH, etal |title=Involvement of the putative hematopoietic transcription factor SCL in T-cell acute lymphoblastic leukemia |journal=Blood |volume=79 |issue= 5 |pages= 1327–33 |year= 1992 |pmid= 1311214 |doi=  }}
*{{cite journal  | author=Aplan PD, Lombardi DP, Kirsch IR |title=Structural characterization of SIL, a gene frequently disrupted in T-cell acute lymphoblastic leukemia. |journal=Mol. Cell. Biol. |volume=11 |issue= 11 |pages= 5462-9 |year= 1991 |pmid= 1922059 |doi=  }}
*{{cite journal  | vauthors=Aplan PD, Lombardi DP, Kirsch IR |title=Structural characterization of SIL, a gene frequently disrupted in T-cell acute lymphoblastic leukemia |journal=Mol. Cell. Biol. |volume=11 |issue= 11 |pages= 5462–9 |year= 1991 |pmid= 1922059 |doi= | pmc=361915 }}
*{{cite journal | author=Jonsson OG, Kitchens RL, Baer RJ, ''et al.'' |title=Rearrangements of the tal-1 locus as clonal markers for T cell acute lymphoblastic leukemia. |journal=J. Clin. Invest. |volume=87 |issue= 6 |pages= 2029-35 |year= 1991 |pmid= 2040693 |doi=  }}
*{{cite journal   |vauthors=Jonsson OG, Kitchens RL, Baer RJ, etal |title=Rearrangements of the tal-1 locus as clonal markers for T cell acute lymphoblastic leukemia |journal=J. Clin. Invest. |volume=87 |issue= 6 |pages= 2029–35 |year= 1991 |pmid= 2040693 |doi=10.1172/JCI115232  | pmc=296958 }}
*{{cite journal | author=Brown L, Cheng JT, Chen Q, ''et al.'' |title=Site-specific recombination of the tal-1 gene is a common occurrence in human T cell leukemia. |journal=EMBO J. |volume=9 |issue= 10 |pages= 3343-51 |year= 1990 |pmid= 2209547 |doi=  }}
*{{cite journal   |vauthors=Aplan PD, Lombardi DP, Ginsberg AM, etal |title=Disruption of the human SCL locus by "illegitimate" V-(D)-J recombinase activity |journal=Science |volume=250 |issue= 4986 |pages= 1426–9 |year= 1991 |pmid= 2255914 |doi=10.1126/science.2255914 }}
*{{cite journal | author=Aplan PD, Lombardi DP, Ginsberg AM, ''et al.'' |title=Disruption of the human SCL locus by "illegitimate" V-(D)-J recombinase activity. |journal=Science |volume=250 |issue= 4986 |pages= 1426-9 |year= 1991 |pmid= 2255914 |doi=  }}
*{{cite journal   |vauthors=Kikuchi A, Hayashi Y, Kobayashi S, etal |title=Clinical significance of TAL1 gene alteration in childhood T-cell acute lymphoblastic leukemia and lymphoma |journal=Leukemia |volume=7 |issue= 7 |pages= 933–8 |year= 1993 |pmid= 8321044 |doi=  }}
*{{cite journal  | author=Kikuchi A, Hayashi Y, Kobayashi S, ''et al.'' |title=Clinical significance of TAL1 gene alteration in childhood T-cell acute lymphoblastic leukemia and lymphoma. |journal=Leukemia |volume=7 |issue= 7 |pages= 933-8 |year= 1993 |pmid= 8321044 |doi= }}
*{{cite journal  | vauthors=Collazo-Garcia N, Scherer P, Aplan PD |title=Cloning and characterization of a murine SIL gene |journal=Genomics |volume=30 |issue= 3 |pages= 506–13 |year= 1997 |pmid= 8825637 |doi= 10.1006/geno.1995.1271 }}
*{{cite journal | author=Collazo-Garcia N, Scherer P, Aplan PD |title=Cloning and characterization of a murine SIL gene. |journal=Genomics |volume=30 |issue= 3 |pages= 506-13 |year= 1997 |pmid= 8825637 |doi= 10.1006/geno.1995.1271 }}
*{{cite journal   |vauthors=Izraeli S, Colaizzo-Anas T, Bertness VL, etal |title=Expression of the SIL gene is correlated with growth induction and cellular proliferation |journal=Cell Growth Differ. |volume=8 |issue= 11 |pages= 1171–9 |year= 1997 |pmid= 9372240 |doi= }}
*{{cite journal | author=Izraeli S, Colaizzo-Anas T, Bertness VL, ''et al.'' |title=Expression of the SIL gene is correlated with growth induction and cellular proliferation. |journal=Cell Growth Differ. |volume=8 |issue= 11 |pages= 1171-9 |year= 1997 |pmid= 9372240 |doi= }}
*{{cite journal   |vauthors=Göttgens B, Barton LM, Gilbert JG, etal |title=Analysis of vertebrate SCL loci identifies conserved enhancers |journal=Nat. Biotechnol. |volume=18 |issue= 2 |pages= 181–6 |year= 2000 |pmid= 10657125 |doi= 10.1038/72635 }}
*{{cite journal  | author=Göttgens B, Barton LM, Gilbert JG, ''et al.'' |title=Analysis of vertebrate SCL loci identifies conserved enhancers. |journal=Nat. Biotechnol. |volume=18 |issue= 2 |pages= 181-6 |year= 2000 |pmid= 10657125 |doi= 10.1038/72635 }}
*{{cite journal  | vauthors=Raghavan SC, Kirsch IR, Lieber MR |title=Analysis of the V(D)J recombination efficiency at lymphoid chromosomal translocation breakpoints |journal=J. Biol. Chem. |volume=276 |issue= 31 |pages= 29126–33 |year= 2001 |pmid= 11390401 |doi= 10.1074/jbc.M103797200 }}
*{{cite journal | author=Raghavan SC, Kirsch IR, Lieber MR |title=Analysis of the V(D)J recombination efficiency at lymphoid chromosomal translocation breakpoints. |journal=J. Biol. Chem. |volume=276 |issue= 31 |pages= 29126-33 |year= 2001 |pmid= 11390401 |doi= 10.1074/jbc.M103797200 }}
*{{cite journal   |vauthors=Carlotti E, Pettenella F, Amaru R, etal |title=Molecular characterization of a new recombination of the SIL/TAL-1 locus in a child with T-cell acute lymphoblastic leukaemia |journal=Br. J. Haematol. |volume=118 |issue= 4 |pages= 1011–8 |year= 2002 |pmid= 12199779 |doi=10.1046/j.1365-2141.2002.03747.x  }}
*{{cite journal | author=Carlotti E, Pettenella F, Amaru R, ''et al.'' |title=Molecular characterization of a new recombination of the SIL/TAL-1 locus in a child with T-cell acute lymphoblastic leukaemia. |journal=Br. J. Haematol. |volume=118 |issue= 4 |pages= 1011-8 |year= 2002 |pmid= 12199779 |doi=  }}
*{{cite journal   |vauthors=Karkera JD, Izraeli S, Roessler E, etal |title=The genomic structure, chromosomal localization, and analysis of SIL as a candidate gene for holoprosencephaly |journal=Cytogenet. Genome Res. |volume=97 |issue= 1–2 |pages= 62–7 |year= 2003 |pmid= 12438740 |doi=10.1159/000064057 }}
*{{cite journal | author=Karkera JD, Izraeli S, Roessler E, ''et al.'' |title=The genomic structure, chromosomal localization, and analysis of SIL as a candidate gene for holoprosencephaly. |journal=Cytogenet. Genome Res. |volume=97 |issue= 1-2 |pages= 62-7 |year= 2003 |pmid= 12438740 |doi=  }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | vauthors=Colaizzo-Anas T, Aplan PD |title=Cloning and characterization of the SIL promoter |journal=Biochim. Biophys. Acta |volume=1625 |issue= 2 |pages= 207–13 |year= 2003 |pmid= 12531481 |doi= 10.1016/S0167-4781(02)00597-3}}
*{{cite journal  | author=Colaizzo-Anas T, Aplan PD |title=Cloning and characterization of the SIL promoter. |journal=Biochim. Biophys. Acta |volume=1625 |issue= 2 |pages= 207-13 |year= 2003 |pmid= 12531481 |doi=  }}
*{{cite journal  | vauthors=Curry JD, Smith MT |title=Measurement of SIL-TAL1 fusion gene transcripts associated with human T-cell lymphocytic leukemia by real-time reverse transcriptase-PCR |journal=Leuk. Res. |volume=27 |issue= 7 |pages= 575–82 |year= 2003 |pmid= 12681356 |doi=10.1016/S0145-2126(02)00260-6 }}
*{{cite journal | author=Curry JD, Smith MT |title=Measurement of SIL-TAL1 fusion gene transcripts associated with human T-cell lymphocytic leukemia by real-time reverse transcriptase-PCR. |journal=Leuk. Res. |volume=27 |issue= 7 |pages= 575-82 |year= 2003 |pmid= 12681356 |doi= }}
*{{cite journal   |vauthors=Cavé H, Suciu S, Preudhomme C, etal |title=Clinical significance of HOX11L2 expression linked to t(5;14)(q35;q32), of HOX11 expression, and of SIL-TAL fusion in childhood T-cell malignancies: results of EORTC studies 58881 and 58951 |journal=Blood |volume=103 |issue= 2 |pages= 442–50 |year= 2004 |pmid= 14504110 |doi= 10.1182/blood-2003-05-1495 }}
*{{cite journal | author=Cavé H, Suciu S, Preudhomme C, ''et al.'' |title=Clinical significance of HOX11L2 expression linked to t(5;14)(q35;q32), of HOX11 expression, and of SIL-TAL fusion in childhood T-cell malignancies: results of EORTC studies 58881 and 58951. |journal=Blood |volume=103 |issue= 2 |pages= 442-50 |year= 2004 |pmid= 14504110 |doi= 10.1182/blood-2003-05-1495 }}
*{{cite journal   |vauthors=Erez A, Perelman M, Hewitt SM, etal |title=Sil overexpression in lung cancer characterizes tumors with increased mitotic activity |journal=Oncogene |volume=23 |issue= 31 |pages= 5371–7 |year= 2004 |pmid= 15107824 |doi= 10.1038/sj.onc.1207685 }}
*{{cite journal | author=Erez A, Perelman M, Hewitt SM, ''et al.'' |title=Sil overexpression in lung cancer characterizes tumors with increased mitotic activity. |journal=Oncogene |volume=23 |issue= 31 |pages= 5371-7 |year= 2004 |pmid= 15107824 |doi= 10.1038/sj.onc.1207685 }}
*{{cite journal   |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504  | pmc=528928 }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | vauthors=Campaner S, Kaldis P, Izraeli S, Kirsch IR |title=Sil Phosphorylation in a Pin1 Binding Domain Affects the Duration of the Spindle Checkpoint |journal=Mol. Cell. Biol. |volume=25 |issue= 15 |pages= 6660–72 |year= 2005 |pmid= 16024801 |doi= 10.1128/MCB.25.15.6660-6672.2005  | pmc=1190358 }}
*{{cite journal | author=Campaner S, Kaldis P, Izraeli S, Kirsch IR |title=Sil phosphorylation in a Pin1 binding domain affects the duration of the spindle checkpoint. |journal=Mol. Cell. Biol. |volume=25 |issue= 15 |pages= 6660-72 |year= 2005 |pmid= 16024801 |doi= 10.1128/MCB.25.15.6660-6672.2005 }}
*{{cite journal   |vauthors=Kimura K, Wakamatsu A, Suzuki Y, etal |title=Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 | pmc=1356129 }}
*{{cite journal | author=Kimura K, Wakamatsu A, Suzuki Y, ''et al.'' |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55-65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 }}
}}
}}
      Kumar A, Girimaji SC, Duvvari MR, Blanton SH (2009): Mutations in STIL,   
      encoding a pericentriolar and centrosomal protein, cause primary 
      microcephaly. American Journal of Human Genetics 84:286-290.
{{refend}}
{{refend}}


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Latest revision as of 07:11, 11 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

SCL-interrupting locus protein is a protein that in humans is encoded by the STIL gene.[1][2]

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 recombination events. Multiple transcript variants encoding different isoforms have been found for this gene.[2]

Homozygous mutations in the STIL gene cause primary microcephaly (small brain) in humans.

References

  1. ↑ Brown L, Cheng JT, Chen Q, Siciliano MJ, Crist W, Buchanan G, Baer R (Nov 1990). "Site-specific recombination of the tal-1 gene is a common occurrence in human T cell leukemia". EMBO J. 9 (10): 3343–51. PMC 552072. PMID 2209547.
  2. ↑ 2.0 2.1 "Entrez Gene: STIL SCL/TAL1 interrupting locus".

Further reading

     Kumar A, Girimaji SC, Duvvari MR, Blanton SH (2009): Mutations in STIL,    
     encoding a pericentriolar and centrosomal protein, cause primary   
     microcephaly. American Journal of Human Genetics 84:286-290.



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