STIL

SCL-interrupting locus protein is a protein that in humans is encoded by the STIL gene.[5][6]

STIL
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4YYP
Identifiers
Aliases	STIL, MCPH7, SIL, SCL/TAL1 interrupting locus, centriolar assembly protein, STIL centriolar assembly protein
External IDs	OMIM: 181590 MGI: 107477 HomoloGene: 2283 GeneCards: STIL
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p33 Start 47,250,139 bp[1] End 47,314,147 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 D1 Start 115,000,159 bp[2] End 115,043,196 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001948 protein binding • identical protein binding Cellular component • cytoplasm • cytosol • centrosome • centriole • cytoskeleton Biological process • centrosome duplication • multicellular organism growth • GO:0043148 mitotic spindle organization • notochord development • embryonic axis specification • negative regulation of apoptotic process • in utero embryonic development • floor plate development • multicellular organism development • heart looping • neural tube closure • determination of left/right symmetry • neural tube development • protein localization to centrosome • smoothened signaling pathway • forebrain development • cellular proliferation • regulation of centriole replication Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	6491	20460
Ensembl	ENSG00000123473	ENSMUSG00000028718
UniProt	Q15468 Q7Z626	Q60988
RefSeq (mRNA)	NM_001048166 NM_001282936 NM_001282937 NM_001282938 NM_001282939 NM_003035 NM_001377417	NM_009185 NM_001304551 NM_001304553 NM_001304555 NM_001304559
RefSeq (protein)	NP_001041631 NP_001269865 NP_001269866 NP_001269867 NP_001269868 NP_003026 NP_001364346 NP_001269866.1 NP_001269868.1	NP_001291480 NP_001291482 NP_001291484 NP_001291488 NP_033211
Location (UCSC)	Chr 1: 47.25 – 47.31 Mb	Chr 4: 115 – 115.04 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.[6]

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

References

1. GRCh38: Ensembl release 89: ENSG00000123473 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000028718 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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. doi:10.1002/j.1460-2075.1990.tb07535.x. PMC 552072. PMID 2209547.
6. "Entrez Gene: STIL SCL/TAL1 interrupting locus".

Further reading

• Aplan PD, Lombardi DP, Reaman GH, et al. (1992). "Involvement of the putative hematopoietic transcription factor SCL in T-cell acute lymphoblastic leukemia". Blood. 79 (5): 1327–33. PMID 1311214.
• Aplan PD, Lombardi DP, Kirsch IR (1991). "Structural characterization of SIL, a gene frequently disrupted in T-cell acute lymphoblastic leukemia". Mol. Cell. Biol. 11 (11): 5462–9. doi:10.1128/MCB.11.11.5462. PMC 361915. PMID 1922059.
• Jonsson OG, Kitchens RL, Baer RJ, et al. (1991). "Rearrangements of the tal-1 locus as clonal markers for T cell acute lymphoblastic leukemia". J. Clin. Invest. 87 (6): 2029–35. doi:10.1172/JCI115232. PMC 296958. PMID 2040693.
• Aplan PD, Lombardi DP, Ginsberg AM, et al. (1991). "Disruption of the human SCL locus by "illegitimate" V-(D)-J recombinase activity". Science. 250 (4986): 1426–9. doi:10.1126/science.2255914. PMID 2255914.
• Kikuchi A, Hayashi Y, Kobayashi S, et al. (1993). "Clinical significance of TAL1 gene alteration in childhood T-cell acute lymphoblastic leukemia and lymphoma". Leukemia. 7 (7): 933–8. PMID 8321044.
• Collazo-Garcia N, Scherer P, Aplan PD (1997). "Cloning and characterization of a murine SIL gene". Genomics. 30 (3): 506–13. doi:10.1006/geno.1995.1271. PMID 8825637.
• Izraeli S, Colaizzo-Anas T, Bertness VL, et al. (1997). "Expression of the SIL gene is correlated with growth induction and cellular proliferation". Cell Growth Differ. 8 (11): 1171–9. PMID 9372240.
• Göttgens B, Barton LM, Gilbert JG, et al. (2000). "Analysis of vertebrate SCL loci identifies conserved enhancers". Nat. Biotechnol. 18 (2): 181–6. doi:10.1038/72635. PMID 10657125.
• Raghavan SC, Kirsch IR, Lieber MR (2001). "Analysis of the V(D)J recombination efficiency at lymphoid chromosomal translocation breakpoints". J. Biol. Chem. 276 (31): 29126–33. doi:10.1074/jbc.M103797200. PMID 11390401.
• Carlotti E, Pettenella F, Amaru R, et al. (2002). "Molecular characterization of a new recombination of the SIL/TAL-1 locus in a child with T-cell acute lymphoblastic leukaemia". Br. J. Haematol. 118 (4): 1011–8. doi:10.1046/j.1365-2141.2002.03747.x. PMID 12199779.
• Karkera JD, Izraeli S, Roessler E, et al. (2003). "The genomic structure, chromosomal localization, and analysis of SIL as a candidate gene for holoprosencephaly". Cytogenet. Genome Res. 97 (1–2): 62–7. doi:10.1159/000064057. PMID 12438740.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Colaizzo-Anas T, Aplan PD (2003). "Cloning and characterization of the SIL promoter". Biochim. Biophys. Acta. 1625 (2): 207–13. doi:10.1016/S0167-4781(02)00597-3. PMID 12531481.
• Curry JD, Smith MT (2003). "Measurement of SIL-TAL1 fusion gene transcripts associated with human T-cell lymphocytic leukemia by real-time reverse transcriptase-PCR". Leuk. Res. 27 (7): 575–82. doi:10.1016/S0145-2126(02)00260-6. PMID 12681356.
• Cavé H, Suciu S, Preudhomme C, et al. (2004). "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". Blood. 103 (2): 442–50. doi:10.1182/blood-2003-05-1495. PMID 14504110.
• Erez A, Perelman M, Hewitt SM, et al. (2004). "Sil overexpression in lung cancer characterizes tumors with increased mitotic activity". Oncogene. 23 (31): 5371–7. doi:10.1038/sj.onc.1207685. PMID 15107824.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Campaner S, Kaldis P, Izraeli S, Kirsch IR (2005). "Sil Phosphorylation in a Pin1 Binding Domain Affects the Duration of the Spindle Checkpoint". Mol. Cell. Biol. 25 (15): 6660–72. doi:10.1128/MCB.25.15.6660-6672.2005. PMC 1190358. PMID 16024801.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.

     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.

External links

• Overview of all the structural information available in the PDB for UniProt: Q15468 (SCL-interrupting locus protein) at the PDBe-KB.