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SCL-interrupting locus protein (TAL-1-interrupting locus protein)

 STIL_HUMAN              Reviewed;        1287 AA.
Q15468; Q5T0C5; Q68CN9;
09-JAN-2007, integrated into UniProtKB/Swiss-Prot.
09-JAN-2007, sequence version 2.
28-MAR-2018, entry version 133.
RecName: Full=SCL-interrupting locus protein;
AltName: Full=TAL-1-interrupting locus protein;
Name=STIL; Synonyms=SIL;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), CHROMOSOMAL REARRANGEMENT, AND
TISSUE SPECIFICITY.
TISSUE=Bone marrow;
PubMed=1922059; DOI=10.1128/MCB.11.11.5462;
Aplan P.D., Lombardi D.P., Kirsch I.R.;
"Structural characterization of SIL, a gene frequently disrupted in T-
cell acute lymphoblastic leukemia.";
Mol. Cell. Biol. 11:5462-5469(1991).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORM 1),
AND VARIANTS VAL-86 AND ARG-1012.
PubMed=12438740; DOI=10.1159/000064057;
Karkera J.D., Izraeli S., Roessler E., Dutra A., Kirsch I.R.,
Muenke M.;
"The genomic structure, chromosomal localization, and analysis of SIL
as a candidate gene for holoprosencephaly.";
Cytogenet. Genome Res. 97:62-67(2002).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANTS
VAL-86 AND ARG-984.
TISSUE=Uterus;
PubMed=17974005; DOI=10.1186/1471-2164-8-399;
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
"The full-ORF clone resource of the German cDNA consortium.";
BMC Genomics 8:399-399(2007).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16710414; DOI=10.1038/nature04727;
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D.,
Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A.,
Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F.,
McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C.,
Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P.,
Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K.,
Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G.,
Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D.,
Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G.,
Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J.,
Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R.,
Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D.,
Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G.,
Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M.,
Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J.,
Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M.,
Loveland J., Lovell J., Lush M.J., Lyne R., Martin S.,
Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S.,
Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C.,
Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z.,
Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E.,
Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A.,
Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R.,
Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V.,
Beck S., Rogers J., Bentley D.R.;
"The DNA sequence and biological annotation of human chromosome 1.";
Nature 441:315-321(2006).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
CHROMOSOMAL REARRANGEMENT.
PubMed=2209547;
Brown L., Cheng J.-T., Chen Q., Siciliano M.J., Crist W., Buchanan G.,
Baer R.;
"Site-specific recombination of the tal-1 gene is a common occurrence
in human T cell leukemia.";
EMBO J. 9:3343-3351(1990).
[7]
CHROMOSOMAL REARRANGEMENT.
PubMed=2255914; DOI=10.1126/science.2255914;
Aplan P.D., Lombardi D.P., Ginsberg A.M., Cossman J., Bertness V.L.,
Kirsch I.R.;
"Disruption of the human SCL locus by 'illegitimate' V-(D)-J
recombinase activity.";
Science 250:1426-1429(1990).
[8]
CHROMOSOMAL REARRANGEMENT.
PubMed=1311214;
Aplan P.D., Lombardi D.P., Reaman G.H., Sather H.N., Hammond G.D.,
Kirsch I.R.;
"Involvement of the putative hematopoietic transcription factor SCL in
T-cell acute lymphoblastic leukemia.";
Blood 79:1327-1333(1992).
[9]
FUNCTION, AND INDUCTION.
PubMed=9372240;
Izraeli S., Colaizzo-Anas T., Bertness V.L., Mani K., Aplan P.D.,
Kirsch I.R.;
"Expression of the SIL gene is correlated with growth induction and
cellular proliferation.";
Cell Growth Differ. 8:1171-1179(1997).
[10]
CHROMOSOMAL REARRANGEMENT.
PubMed=11390401; DOI=10.1074/jbc.M103797200;
Raghavan S.C., Kirsch I.R., Lieber M.R.;
"Analysis of the V(D)J recombination efficiency at lymphoid
chromosomal translocation breakpoints.";
J. Biol. Chem. 276:29126-29133(2001).
[11]
CHROMOSOMAL REARRANGEMENT.
PubMed=12681356; DOI=10.1016/S0145-2126(02)00260-6;
Curry J.D., Smith M.T.;
"Measurement of SIL-TAL1 fusion gene transcripts associated with human
T-cell lymphocytic leukemia by real-time reverse transcriptase-PCR.";
Leuk. Res. 27:575-582(2003).
[12]
CHROMOSOMAL REARRANGEMENT.
PubMed=14504110; DOI=10.1182/blood-2003-05-1495;
Cave H., Suciu S., Preudhomme C., Poppe B., Robert A., Uyttebroeck A.,
Malet M., Boutard P., Benoit Y., Mauvieux L., Lutz P., Mechinaud F.,
Grardel N., Mazingue F., Dupont M., Margueritte G., Pages M.-P.,
Bertrand Y., Plouvier E., Brunie G., Bastard C., Plantaz D.,
Vande Velde I., Hagemeijer A., Speleman F., Lessard M., Otten J.,
Vilmer E., Dastugue N.;
"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 103:442-450(2004).
[13]
TISSUE SPECIFICITY.
PubMed=15107824; DOI=10.1038/sj.onc.1207685;
Erez A., Perelman M., Hewitt S.M., Cojacaru G., Goldberg I.,
Shahar I., Yaron P., Muler I., Campaner S., Amariglio N., Rechavi G.,
Kirsch I.R., Krupsky M., Kaminski N., Izraeli S.;
"Sil overexpression in lung cancer characterizes tumors with increased
mitotic activity.";
Oncogene 23:5371-5377(2004).
[14]
FUNCTION, AND PHOSPHORYLATION.
PubMed=16024801; DOI=10.1128/MCB.25.15.6660-6672.2005;
Campaner S., Kaldis P., Izraeli S., Kirsch I.R.;
"Sil phosphorylation in a Pin1 binding domain affects the duration of
the spindle checkpoint.";
Mol. Cell. Biol. 25:6660-6672(2005).
[15]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-753, AND IDENTIFICATION
BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=18669648; DOI=10.1073/pnas.0805139105;
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
Elledge S.J., Gygi S.P.;
"A quantitative atlas of mitotic phosphorylation.";
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
[16]
INVOLVEMENT IN MCPH7.
PubMed=19215732; DOI=10.1016/j.ajhg.2009.01.017;
Kumar A., Girimaji S.C., Duvvari M.R., Blanton S.H.;
"Mutations in STIL, encoding a pericentriolar and centrosomal protein,
cause primary microcephaly.";
Am. J. Hum. Genet. 84:286-290(2009).
[17]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1135, AND IDENTIFICATION
BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Leukemic T-cell;
PubMed=19690332; DOI=10.1126/scisignal.2000007;
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
Rodionov V., Han D.K.;
"Quantitative phosphoproteomic analysis of T cell receptor signaling
reveals system-wide modulation of protein-protein interactions.";
Sci. Signal. 2:RA46-RA46(2009).
[18]
FUNCTION, SUBUNIT, SUBCELLULAR LOCATION, INTERACTION WITH CENPJ,
FORMATION OF A COMPLEX WITH CENPJ AND SASS6, AND UBIQUITINATION.
PubMed=22020124; DOI=10.1038/emboj.2011.378;
Tang C.J., Lin S.Y., Hsu W.B., Lin Y.N., Wu C.T., Lin Y.C.,
Chang C.W., Wu K.S., Tang T.K.;
"The human microcephaly protein STIL interacts with CPAP and is
required for procentriole formation.";
EMBO J. 30:4790-4804(2011).
[19]
ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, AND IDENTIFICATION BY
MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=22814378; DOI=10.1073/pnas.1210303109;
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E.,
Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K.,
Aldabe R.;
"N-terminal acetylome analyses and functional insights of the N-
terminal acetyltransferase NatB.";
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
[20]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-395; SER-779 AND
SER-1135, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
ANALYSIS].
TISSUE=Cervix carcinoma, and Erythroleukemia;
PubMed=23186163; DOI=10.1021/pr300630k;
Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
Mohammed S.;
"Toward a comprehensive characterization of a human cancer cell
phosphoproteome.";
J. Proteome Res. 12:260-271(2013).
[21]
SUBCELLULAR LOCATION, AND INTERACTION WITH RBM14 AND CENPJ.
PubMed=25385835; DOI=10.15252/embj.201488979;
Shiratsuchi G., Takaoka K., Ashikawa T., Hamada H., Kitagawa D.;
"RBM14 prevents assembly of centriolar protein complexes and maintains
mitotic spindle integrity.";
EMBO J. 34:97-114(2015).
[22]
VARIANT MCPH7 TRP-798.
PubMed=22989186; DOI=10.1111/j.1399-0004.2012.01949.x;
Papari E., Bastami M., Farhadi A., Abedini S.S., Hosseini M.,
Bahman I., Mohseni M., Garshasbi M., Moheb L.A., Behjati F.,
Kahrizi K., Ropers H.H., Najmabadi H.;
"Investigation of primary microcephaly in Bushehr province of Iran:
novel STIL and ASPM mutations.";
Clin. Genet. 83:488-490(2013).
-!- 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).
{ECO:0000269|PubMed:16024801, ECO:0000269|PubMed:22020124,
ECO:0000269|PubMed:9372240}.
-!- SUBUNIT: 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). {ECO:0000250|UniProtKB:Q60988,
ECO:0000269|PubMed:22020124, ECO:0000269|PubMed:25385835}.
-!- INTERACTION:
Q9HC77:CENPJ; NbExp=15; IntAct=EBI-7488405, EBI-946194;
Q6UVJ0:SASS6; NbExp=4; IntAct=EBI-7488405, EBI-1570153;
-!- SUBCELLULAR LOCATION: Cytoplasm, cytosol
{ECO:0000250|UniProtKB:Q60988}. Cytoplasm, cytoskeleton,
microtubule organizing center, centrosome, centriole
{ECO:0000269|PubMed:22020124, ECO:0000269|PubMed:25385835}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=Q15468-1; Sequence=Displayed;
Name=2;
IsoId=Q15468-2; Sequence=VSP_022301;
Note=No experimental confirmation available.;
-!- 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. {ECO:0000269|PubMed:15107824, ECO:0000269|PubMed:1922059}.
-!- INDUCTION: Down-regulated when cell proliferation ceased.
Accumulates during G2 phase and falls at completion of the cell
cycle. {ECO:0000269|PubMed:9372240}.
-!- PTM: Ubiquitinated. {ECO:0000269|PubMed:22020124}.
-!- PTM: Phosphorylated following the activation of the mitotic
checkpoint. {ECO:0000269|PubMed:16024801}.
-!- DISEASE: 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}.
-!- DISEASE: 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.
-!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
and Haematology;
URL="http://atlasgeneticsoncology.org/Genes/SILID524ch1p32.html";
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EMBL; M74558; AAA60550.1; -; mRNA.
EMBL; AF349657; AAK51418.1; -; Genomic_DNA.
EMBL; AF349642; AAK51418.1; JOINED; Genomic_DNA.
EMBL; AF349643; AAK51418.1; JOINED; Genomic_DNA.
EMBL; AF349645; AAK51418.1; JOINED; Genomic_DNA.
EMBL; AF349647; AAK51418.1; JOINED; Genomic_DNA.
EMBL; AF349649; AAK51418.1; JOINED; Genomic_DNA.
EMBL; AF349651; AAK51418.1; JOINED; Genomic_DNA.
EMBL; AF349653; AAK51418.1; JOINED; Genomic_DNA.
EMBL; AF349656; AAK51418.1; JOINED; Genomic_DNA.
EMBL; AF349655; AAK51418.1; JOINED; Genomic_DNA.
EMBL; AF349654; AAK51418.1; JOINED; Genomic_DNA.
EMBL; AF349652; AAK51418.1; JOINED; Genomic_DNA.
EMBL; AF349650; AAK51418.1; JOINED; Genomic_DNA.
EMBL; AF349648; AAK51418.1; JOINED; Genomic_DNA.
EMBL; AF349646; AAK51418.1; JOINED; Genomic_DNA.
EMBL; AF349644; AAK51418.1; JOINED; Genomic_DNA.
EMBL; CR749851; CAH18699.1; -; mRNA.
EMBL; AL513322; CAI13468.1; -; Genomic_DNA.
EMBL; AL135960; CAI13468.1; JOINED; Genomic_DNA.
EMBL; AL135960; CAI19733.1; -; Genomic_DNA.
EMBL; AL513322; CAI19733.1; JOINED; Genomic_DNA.
EMBL; BC126223; AAI26224.1; -; mRNA.
CCDS; CCDS41329.1; -. [Q15468-2]
CCDS; CCDS548.1; -. [Q15468-1]
PIR; A41685; A41685.
RefSeq; NP_001041631.1; NM_001048166.1. [Q15468-2]
RefSeq; NP_001269865.1; NM_001282936.1. [Q15468-1]
RefSeq; NP_001269866.1; NM_001282937.1.
RefSeq; NP_001269867.1; NM_001282938.1.
RefSeq; NP_001269868.1; NM_001282939.1.
RefSeq; NP_003026.2; NM_003035.2. [Q15468-1]
RefSeq; XP_006710897.1; XM_006710834.3. [Q15468-2]
RefSeq; XP_011540293.1; XM_011541991.2. [Q15468-2]
RefSeq; XP_011540294.1; XM_011541992.2. [Q15468-2]
UniGene; Hs.525198; -.
PDB; 4YYP; X-ray; 2.60 A; B=720-751.
PDB; 5LHW; X-ray; 0.91 A; A=726-750.
PDB; 5LHZ; X-ray; 2.51 A; D/E/F=726-750.
PDBsum; 4YYP; -.
PDBsum; 5LHW; -.
PDBsum; 5LHZ; -.
ProteinModelPortal; Q15468; -.
SMR; Q15468; -.
BioGrid; 112382; 97.
DIP; DIP-60580N; -.
IntAct; Q15468; 71.
MINT; Q15468; -.
STRING; 9606.ENSP00000360944; -.
iPTMnet; Q15468; -.
PhosphoSitePlus; Q15468; -.
BioMuta; STIL; -.
DMDM; 122070597; -.
MaxQB; Q15468; -.
PaxDb; Q15468; -.
PeptideAtlas; Q15468; -.
PRIDE; Q15468; -.
DNASU; 6491; -.
Ensembl; ENST00000360380; ENSP00000353544; ENSG00000123473. [Q15468-1]
Ensembl; ENST00000371877; ENSP00000360944; ENSG00000123473. [Q15468-2]
GeneID; 6491; -.
KEGG; hsa:6491; -.
UCSC; uc001crd.2; human. [Q15468-1]
CTD; 6491; -.
DisGeNET; 6491; -.
EuPathDB; HostDB:ENSG00000123473.15; -.
GeneCards; STIL; -.
GeneReviews; STIL; -.
HGNC; HGNC:10879; STIL.
HPA; HPA046543; -.
MalaCards; STIL; -.
MIM; 181590; gene.
MIM; 612703; phenotype.
neXtProt; NX_Q15468; -.
OpenTargets; ENSG00000123473; -.
Orphanet; 2512; Autosomal recessive primary microcephaly.
Orphanet; 99861; Precursor T-cell acute lymphoblastic leukemia.
PharmGKB; PA35780; -.
eggNOG; ENOG410IF1P; Eukaryota.
eggNOG; ENOG4111HAF; LUCA.
GeneTree; ENSGT00390000007310; -.
HOGENOM; HOG000231284; -.
HOVERGEN; HBG079548; -.
InParanoid; Q15468; -.
KO; K16724; -.
OMA; SPNNMSF; -.
OrthoDB; EOG091G0KB1; -.
PhylomeDB; Q15468; -.
TreeFam; TF331178; -.
SIGNOR; Q15468; -.
ChiTaRS; STIL; human.
GeneWiki; STIL; -.
GenomeRNAi; 6491; -.
PRO; PR:Q15468; -.
Proteomes; UP000005640; Chromosome 1.
Bgee; ENSG00000123473; -.
CleanEx; HS_STIL; -.
ExpressionAtlas; Q15468; baseline and differential.
Genevisible; Q15468; HS.
GO; GO:0005814; C:centriole; IDA:UniProtKB.
GO; GO:0005813; C:centrosome; IDA:UniProtKB.
GO; GO:0005737; C:cytoplasm; IDA:MGI.
GO; GO:0005829; C:cytosol; IEA:UniProtKB-SubCell.
GO; GO:0008283; P:cell proliferation; TAS:ProtInc.
GO; GO:0051298; P:centrosome duplication; IDA:MGI.
GO; GO:0007368; P:determination of left/right symmetry; ISS:BHF-UCL.
GO; GO:0000578; P:embryonic axis specification; ISS:BHF-UCL.
GO; GO:0033504; P:floor plate development; ISS:BHF-UCL.
GO; GO:0030900; P:forebrain development; ISS:BHF-UCL.
GO; GO:0001947; P:heart looping; ISS:BHF-UCL.
GO; GO:0001701; P:in utero embryonic development; ISS:BHF-UCL.
GO; GO:0007052; P:mitotic spindle organization; IMP:MGI.
GO; GO:0035264; P:multicellular organism growth; ISS:BHF-UCL.
GO; GO:0043066; P:negative regulation of apoptotic process; ISS:BHF-UCL.
GO; GO:0001843; P:neural tube closure; ISS:BHF-UCL.
GO; GO:0021915; P:neural tube development; ISS:BHF-UCL.
GO; GO:0030903; P:notochord development; ISS:BHF-UCL.
GO; GO:0071539; P:protein localization to centrosome; IMP:MGI.
GO; GO:0046599; P:regulation of centriole replication; IMP:UniProtKB.
GO; GO:0007224; P:smoothened signaling pathway; ISS:BHF-UCL.
InterPro; IPR026123; Sil.
PANTHER; PTHR15128; PTHR15128; 1.
Pfam; PF15253; STIL_N; 1.
1: Evidence at protein level;
3D-structure; Acetylation; Alternative splicing;
Chromosomal rearrangement; Complete proteome; Cytoplasm; Cytoskeleton;
Developmental protein; Disease mutation; Mental retardation;
Phosphoprotein; Polymorphism; Primary microcephaly; Proto-oncogene;
Reference proteome; Ubl conjugation.
CHAIN 1 1287 SCL-interrupting locus protein.
/FTId=PRO_0000271332.
REGION 1 1018 Interaction with RBM14.
{ECO:0000269|PubMed:25385835}.
REGION 231 781 Interaction with CENPJ.
{ECO:0000269|PubMed:22020124,
ECO:0000269|PubMed:25385835}.
REGION 584 779 PIN1-binding. {ECO:0000250}.
MOD_RES 1 1 N-acetylmethionine.
{ECO:0000244|PubMed:22814378}.
MOD_RES 395 395 Phosphoserine.
{ECO:0000244|PubMed:23186163}.
MOD_RES 753 753 Phosphoserine.
{ECO:0000244|PubMed:18669648}.
MOD_RES 779 779 Phosphoserine.
{ECO:0000244|PubMed:23186163}.
MOD_RES 1135 1135 Phosphoserine.
{ECO:0000244|PubMed:19690332,
ECO:0000244|PubMed:23186163}.
VAR_SEQ 872 872 N -> NS (in isoform 2).
{ECO:0000303|PubMed:17974005}.
/FTId=VSP_022301.
VARIANT 86 86 A -> V (in dbSNP:rs3125630).
{ECO:0000269|PubMed:12438740,
ECO:0000269|PubMed:17974005}.
/FTId=VAR_029870.
VARIANT 798 798 L -> W (in MCPH7; dbSNP:rs398122976).
{ECO:0000269|PubMed:22989186}.
/FTId=VAR_072404.
VARIANT 984 984 H -> R (in dbSNP:rs13376679).
{ECO:0000269|PubMed:17974005}.
/FTId=VAR_029871.
VARIANT 1012 1012 P -> R. {ECO:0000269|PubMed:12438740}.
/FTId=VAR_029872.
VARIANT 1145 1145 A -> V (in dbSNP:rs3766317).
/FTId=VAR_051386.
CONFLICT 70 71 KQ -> NE (in Ref. 1; AAA60550 and 2;
AAK51418). {ECO:0000305}.
HELIX 726 746 {ECO:0000244|PDB:5LHW}.
SEQUENCE 1287 AA; 142955 MW; 7F15BEDA8717659C CRC64;
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


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