STIL
entrez
6491
canonical
uniprot
Q15468
canonical
ensembl
ENSG00000123473
resolver
ensp
ENSP00000337367
resolver
ensp
ENSP00000353544
resolver
ensp
ENSP00000360944
resolver
ensp
ENSP00000379523
resolver
ensp
ENSP00000411664
resolver
ensp
ENSP00000506981
resolver
ensp
ENSP00000563491
resolver
ensp
ENSP00000563492
resolver
ensp
ENSP00000563493
resolver
ensp
ENSP00000606977
resolver
ensp
ENSP00000606978
resolver
ensp
ENSP00000606979
resolver
ensp
ENSP00000606980
resolver
ensp
ENSP00000606981
resolver
ensp
ENSP00000606982
resolver
ensp
ENSP00000606983
resolver
ensp
ENSP00000606985
resolver
ensp
ENSP00000742106
resolver
ensp
ENSP00000742107
resolver
enst
ENST00000337817
resolver
enst
ENST00000396221
resolver
enst
ENST00000447475
resolver
enst
ENST00000682977
resolver
enst
ENST00000893433
resolver
enst
ENST00000936920
resolver
enst
ENST00000936922
resolver
enst
ENST00000936926
resolver
genesymbol
STIL
resolver
genesymbol_syn
SIL
resolver
hgnc
HGNC:10879
resolver
uniprot
A0A0A0MR87
resolver
uniprot
B7ZLW5
resolver
uniprot
E9PSF2
resolver
uniprot
Q5T0C5
resolver
uniprot
Q5T0C7
resolver
uniprot
Q68CN9
resolver
uniprot
Q7Z626
resolver
uniprot_entry
A0A0A0MR87_HUMAN
resolver
uniprot_entry
B7ZLW5_HUMAN
resolver
uniprot_entry
E9PSF2_HUMAN
resolver
uniprot_entry
Q5T0C7_HUMAN
resolver
uniprot_entry
Q7Z626_HUMAN
resolver
uniprot_entry
STIL_HUMAN
resolver
uniprot_sec
Q5T0C5
resolver
uniprot_sec
Q68CN9
resolver
amino_acid_sequence
MEPIYPFARPQMNTRFPSSRMVPFHFPPSKCALWNPTPTGDFIYLHLSYYRNPKLVVTEKTIRLAYRHAKQNKKNSSCFLLGSLTADEDEEGVTLTVDRFDPGREVPECLEITPTASLPGDFLIPCKVHTQELCSREMIVHSVDDFSSALKALQCHICSKDSLDCGKLLSLRVHITSRESLDSVEFDLHWAAVTLANNFKCTPVKPIPIIPTALARNLSSNLNISQVQGTYKYGYLTMDETRKLLLLLESDPKVYSLPLVGIWLSGITHIYSPQVWACCLRYIFNSSVQERVFSESGNFIIVLYSMTHKEPEFYECFPCDGKIPDFRFQLLTSKETLHLFKNVEPPDKNPIRCELSAESQNAETEFFSKASKNFSIKRSSQKLSSGKMPIHDHDSGVEDEDFSPRPIPSPHPVSQKISKIQPSVPELSLVLDGNFIESNPLPTPLEMVNNENPPLINHLEHLKPLQPQLYDEKHSPEVEAGEPSLRGIPNQLNQDKPALLRHCKVRQPPAYKKGNPHTRNSIKPSSHNGPSHDIFEKLQTVSAGNVQNEEYPIRPSTLNSRQSSLAPQSQPHDFVFSPHNSGRPMELQIPTPPLPSYCSTNVCRCCQHHSHIQYSPLNSWQGANTVGSIQDVQSEALQKHSLFHPSGCPALYCNAFCSSSSPIALRPQGDMGSCSPHSNIEPSPVARPPSHMDLCNPQPCTVCMHTPKTESDNGMMGLSPDAYRFLTEQDRQLRLLQAQIQRLLEAQSLMPCSPKTTAVEDTVQAGRQMELVSVEAQSSPGLHMRKGVSIAVSTGASLFWNAAGEDQEPDSQMKQDDTKISSEDMNFSVDINNEVTSLPGSASSLKAVDIPSFEESNIAVEEEFNQPLSVSNSSLVVRKEPDVPVFFPSGQLAESVSMCLQTGPTGGASNNSETSEEPKIEHVMQPLLHQPSDNQKIYQDLLGQVNHLLNSSSKETEQPSTKAVIISHECTRTQNVYHTKKKTHHSRLVDKDCVLNATLKQLRSLGVKIDSPTKVKKNAHNVDHASVLACISPEAVISGLNCMSFANVGMSGLSPNGVDLSMEANAIALKYLNENQLSQLSVTRSNQNNCDPFSLLHINTDRSTVGLSLISPNNMSFATKKYMKRYGLLQSSDNSEDEEEPPDNADSKSEYLLNQNLRSIPEQLGGQKEPSKNDHEIINCSNCESVGTNADTPVLRNITNEVLQTKAKQQLTEKPAFLVKNLKPSPAVNLRTGKAEFTQHPEKENEGDITIFPESLQPSETLKQMNSMNSVGTFLDVKRLRQLPKLF
uniprot
proteins
disease_involvement
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 have mild to severe intellectual disability. 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 variants affecting the gene represented in this entry.
uniprot
proteins
function
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 CPAP to the base of the procentriole to initiate procentriole assembly (PubMed:22020124). In complex with STIL acts as a modulator of PLK4-driven cytoskeletal rearrangements and directional cell motility (PubMed:29712910, PubMed:32107292). {ECO:0000269|PubMed:16024801, ECO:0000269|PubMed:22020124, ECO:0000269|PubMed:29712910, ECO:0000269|PubMed:32107292, ECO:0000269|PubMed:9372240}.
uniprot
proteins
mass_dalton
142955
uniprot
proteins
mutagenesis
MUTAGEN 64; /note="L->A: Reduced centriole localization; when associated with 67-A. Does not fully rescue the centriole duplication defect in STIL depleted cells."; /evidence="ECO:0000269|PubMed:29712910"; MUTAGEN 67; /note="R->A: Reduced centriole localization; when associated with 64-A. Does not fully rescue the centriole duplication defect in STIL depleted cells."; /evidence="ECO:0000269|PubMed:29712910
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated. {ECO:0000269|PubMed:22020124}.; PTM: Phosphorylated following the activation of the mitotic checkpoint. {ECO:0000269|PubMed:16024801}.
uniprot
proteins
pubmed
11390401
uniprot
proteins
pubmed
12438740
uniprot
proteins
pubmed
12681356
uniprot
proteins
pubmed
1311214
uniprot
proteins
pubmed
14504110
uniprot
proteins
pubmed
15107824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16024801
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19215732
uniprot
proteins
pubmed
1922059
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
22020124
uniprot
proteins
pubmed
2209547
uniprot
proteins
pubmed
2255914
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
22989186
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25385835
uniprot
proteins
pubmed
29712910
uniprot
proteins
pubmed
32107292
uniprot
proteins
pubmed
9372240
uniprot
proteins
sequence_length
1287
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q60988}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:22020124, ECO:0000269|PubMed:25385835, ECO:0000269|PubMed:29712910}. Cytoplasm, cell cortex {ECO:0000269|PubMed:32107292}. Note=Localizes at the leading edge. {ECO:0000269|PubMed:32107292}.
uniprot
proteins