STIL

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)
Kraj	47,314,892 bp
Lokacija gena (miš)
Hrom.	Hromosom 4 (miš)
Kraj	114,900,393 bp
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
	6491
	20460
	ENSG00000123473
	ENSMUSG00000028718
	Q15468; Q7Z626
	Q60988
NM_001048166; NM_001282936; NM_001282937; NM_001282938; NM_001282939;
	NM_003035; NM_001377417
	NM_009185; NM_001304551; NM_001304553; NM_001304555; NM_001304559
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
	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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000123473 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000028718 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ ^a ^b "Entrez Gene: STIL SCL/TAL1 interrupting locus".
^ "UniProt, Q15468" (jezik: eng.). Pristupljeno 5. 12. 2021.CS1 održavanje: nepoznati jezik (link)

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

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000123473 - Ensembl, maj 2017

[refGRCm38Ensembl-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.

[pmid2209547-5] 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.

[entrez-6] "Entrez Gene: STIL SCL/TAL1 interrupting locus".

[UniProt-7] "UniProt, Q15468" (jezik: eng.). Pristupljeno 5. 12. 2021.CS1 održavanje: nepoznati jezik (link)

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