STIL

Razlikovati: Stil (čvor).

STIL
Dostupne strukture PDB Pretraga ortologa: PDBe RCSB Spisak PDB ID kodova 4YYP
Identifikatori
Aliasi	STIL
Vanjski ID-jevi	OMIM: 181590 MGI: 107477 HomoloGene: 2283 GeneCards: STIL
Lokacija gena (čovjek) Hrom. Hromosom 1 (čovjek)[1] Bend 1p33 Početak 47,250,139 bp[1] Kraj 47,314,892 bp[1]
Lokacija gena (miš) Hrom. Hromosom 4 (miš)[2] Bend 4|4 D1 Početak 114,857,356 bp[2] Kraj 114,900,393 bp[2]
Obrazac RNK ekspresije Više referentnih podataka o ekspresiji
Ontologija gena Molekularna funkcija • GO:0001948, GO:0016582 vezivanje za proteine • vezivanje identičnih proteina Ćelijska komponenta • citoplazma • citosol • centrosom • Centriole • citoskelet Biološki proces • 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 • Ježev signalni put • forebrain development • Ćelijska proliferacija • regulation of centriole replication Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	6491	20460
Ensembl	ENSG00000123473	ENSMUSG00000028718
UniProt	Q15468 Q7Z626	Q60988
RefSeq (mRNK)	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 (bjelančevina)	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
Lokacija (UCSC)	Chr 1: 47.25 – 47.31 Mb	Chr 4: 114.86 – 114.9 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

SCL-ometajući proteinski lokus jest protein koji je kod ljudi kodiran genom STIL sa hromosoma 1.^[5][6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 1.287 aminokiselina, a molekulska težina 142.955 Da.^[7]

• C: Cistein
• D: Asparaginska kiselina
• E: Glutaminska kiselina
• F: Fenilalanin
• G: Glicin
• H: Histidin
• I: Izoleucin
• K: Lizin
• L: Leucin
• M: Metionin
• N: Asparagin
• P: Prolin
• Q: Glutamin
• R: Arginin
• S: Serin
• T: Treonin
• V: Valin
• W: Triptofan
• Y: Tirozin

10		20		30		40		50
MEPIYPFARP		QMNTRFPSSR		MVPFHFPPSK		CALWNPTPTG		DFIYLHLSYY
RNPKLVVTEK		TIRLAYRHAK		QNKKNSSCFL		LGSLTADEDE		EGVTLTVDRF
DPGREVPECL		EITPTASLPG		DFLIPCKVHT		QELCSREMIV		HSVDDFSSAL
KALQCHICSK		DSLDCGKLLS		LRVHITSRES		LDSVEFDLHW		AAVTLANNFK
CTPVKPIPII		PTALARNLSS		NLNISQVQGT		YKYGYLTMDE		TRKLLLLLES
DPKVYSLPLV		GIWLSGITHI		YSPQVWACCL		RYIFNSSVQE		RVFSESGNFI
IVLYSMTHKE		PEFYECFPCD		GKIPDFRFQL		LTSKETLHLF		KNVEPPDKNP
IRCELSAESQ		NAETEFFSKA		SKNFSIKRSS		QKLSSGKMPI		HDHDSGVEDE
DFSPRPIPSP		HPVSQKISKI		QPSVPELSLV		LDGNFIESNP		LPTPLEMVNN
ENPPLINHLE		HLKPLQPQLY		DEKHSPEVEA		GEPSLRGIPN		QLNQDKPALL
RHCKVRQPPA		YKKGNPHTRN		SIKPSSHNGP		SHDIFEKLQT		VSAGNVQNEE
YPIRPSTLNS		RQSSLAPQSQ		PHDFVFSPHN		SGRPMELQIP		TPPLPSYCST
NVCRCCQHHS		HIQYSPLNSW		QGANTVGSIQ		DVQSEALQKH		SLFHPSGCPA
LYCNAFCSSS		SPIALRPQGD		MGSCSPHSNI		EPSPVARPPS		HMDLCNPQPC
TVCMHTPKTE		SDNGMMGLSP		DAYRFLTEQD		RQLRLLQAQI		QRLLEAQSLM
PCSPKTTAVE		DTVQAGRQME		LVSVEAQSSP		GLHMRKGVSI		AVSTGASLFW
NAAGEDQEPD		SQMKQDDTKI		SSEDMNFSVD		INNEVTSLPG		SASSLKAVDI
PSFEESNIAV		EEEFNQPLSV		SNSSLVVRKE		PDVPVFFPSG		QLAESVSMCL
QTGPTGGASN		NSETSEEPKI		EHVMQPLLHQ		PSDNQKIYQD		LLGQVNHLLN
SSSKETEQPS		TKAVIISHEC		TRTQNVYHTK		KKTHHSRLVD		KDCVLNATLK
QLRSLGVKID		SPTKVKKNAH		NVDHASVLAC		ISPEAVISGL		NCMSFANVGM
SGLSPNGVDL		SMEANAIALK		YLNENQLSQL		SVTRSNQNNC		DPFSLLHINT
DRSTVGLSLI		SPNNMSFATK		KYMKRYGLLQ		SSDNSEDEEE		PPDNADSKSE
YLLNQNLRSI		PEQLGGQKEP		SKNDHEIINC		SNCESVGTNA		DTPVLRNITN
EVLQTKAKQQ		LTEKPAFLVK		NLKPSPAVNL		RTGKAEFTQH		PEKENEGDIT
IFPESLQPSE		TLKQMNSMNS		VGTFLDVKRL		RQLPKLF

Funkcija

Ovaj gen kodira citoplazmatski protein uključen u regulaciju kontrolne tačke mitotskog vretena, regulatorni put koji prati segregaciju hromozoma tokom ćelijske diobe kako bi se osigurala pravilna distribucija hromosoma u ćeliji kćeri. Protein je fosforiliran u mitozi i kao odgovor na aktivaciju kontrolne tačke vretena i nestaje kada ćelije pređu u G-fazu. Stupa u interakciju sa mitotskim regulatorom, a njegova ekspresija je potrebna za efikasno aktiviranje kontrolne tačke vretena.

Predlaže se da se regulira aktivnost Cdc2 kinaze tokom zaustavljanja kontrolne tačke vretena. Hromosomske delecije koje spajaju ovaj gen i susjedni lokus obično se javljaju u T-ćelijskoj leukemiji, a smatra se da nastaju nelegitimnim događajima rekombinacije. Za ovaj gen pronađene su višestruke varijante transkripta koje kodiraju različite izoforme.^[6]

Homozigotne mutacije u STIL genu uzrokuju primarnu mikrocefaliju (mali mozak) kod ljudi.

Reference

1. GRCh38: Ensembl release 89: ENSG00000123473 - Ensembl, maj 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000028718 - Ensembl, maj 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".
7. "UniProt, Q15468" (jezik: eng.). Pristupljeno 5. 12. 2021.

Dopunska literatura

• 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. doi:10.1182/blood.V79.5.1327.1327. 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. S2CID 27473560.
• 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. S2CID 20462278.
• 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. S2CID 33129304.
• 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.

Vanjski linkovi

• Q15468