Property Summary

NCBI Gene PubMed Count 48
PubMed Score 86.08
PubTator Score 516.36

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

Disease Target Count P-value
psoriasis 6685 1.95539699074863E-121
non-small cell lung cancer 2798 1.17536381716201E-25
lung adenocarcinoma 2714 2.99010827037358E-11
atypical teratoid/rhabdoid tumor 1095 6.54418846355859E-11
sonic hedgehog group medulloblastoma 1482 7.62883518208529E-9
glioblastoma 5572 3.45489530646548E-8
Breast cancer 3099 1.23410310319178E-7
ovarian cancer 8492 3.23849576650948E-7
medulloblastoma, large-cell 6234 1.17185996882188E-6
pancreatic cancer 2300 1.33281096544743E-6
malignant mesothelioma 3163 1.37020970608272E-6
pediatric high grade glioma 2712 1.64308372239881E-6
posterior fossa group A ependymoma 1511 7.71067461069785E-6
Atopic dermatitis 944 4.33259098340962E-5
primitive neuroectodermal tumor 3031 8.73753817398777E-5
invasive ductal carcinoma 2950 1.49670865882189E-4
intraductal papillary-mucinous carcinoma (IPMC) 2988 2.12745689830682E-4
adrenocortical carcinoma 1427 4.51101973100377E-4
intraductal papillary-mucinous neoplasm (IPMN) 3289 7.70484130100988E-4
lung cancer 4473 0.00191125555539297
intraductal papillary-mucinous adenoma (IPMA) 2956 0.00330691947933966
ductal carcinoma in situ 1745 0.007414951743453
active Crohn's disease 918 0.0108791357655424
osteosarcoma 7933 0.0386212305013743
Disease Target Count Z-score Confidence
Microcephaly 149 5.394 2.7
Intellectual disability 573 3.09 1.5
Cancer 2346 0.0 4.0

Expression

Synonym

Accession Q15468 Q5T0C5 Q68CN9
Symbols SIL
MCPH7

Gene

PDB

4YYP  

  Ortholog (10)

Gene RIF (27)

PMID Text
26549353 data provide evidence for novel functions of the human oncogene Stil in neural toxic susceptibility.
26188084 The authors suggest that the STIL-coiled-coil region/PLK4 interaction mediates PLK4 activation as well as stabilization of centriolar PLK4 and plays a key role in centriole duplication.
25658757 The STIL p.Gly717Glu mutation was not able to fully restore the centriole duplication failure following depletion of endogenous STIL protein indicating the deleterious role of the mutation.
25342035 Negative feedback by centriolar STIL regulates bimodal centriolar distribution of Plk4 and seemingly restricts occurrence of procentriole formation to one site on each parental centriole.
25218063 STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.
24853807 results provide direct evidence for the involvement of Stil in dopaminergic cell proliferation
24571118 Egyptian T-cell acute lymphoblastic leukemia cases seemed to have a different genetic pattern compared to other populations, with a lower incidence of TLX3/HOX11L2 and SIL/TAL but a higher incidence of NKX2-5 expression than recorded in Western countries
24485834 propose that centriole amplification triggered by STIL stabilization is the underlying cause of microcephaly in human patients with corresponding STIL mutations
24240054 A novel function for Stil protein is neural progenitor cell proliferation but not neural differentiation.
24052813 studies provide the first structural insight into how the malfunction of centriole proteins results in human disease and also reveal that the CPAP-STIL interaction constitutes a conserved key step in centriole biogenesis
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AA Sequence

MEPIYPFARPQMNTRFPSSRMVPFHFPPSKCALWNPTPTGDFIYLHLSYYRNPKLVVTEKTIRLAYRHAK      1 - 70
QNKKNSSCFLLGSLTADEDEEGVTLTVDRFDPGREVPECLEITPTASLPGDFLIPCKVHTQELCSREMIV     71 - 140
HSVDDFSSALKALQCHICSKDSLDCGKLLSLRVHITSRESLDSVEFDLHWAAVTLANNFKCTPVKPIPII    141 - 210
PTALARNLSSNLNISQVQGTYKYGYLTMDETRKLLLLLESDPKVYSLPLVGIWLSGITHIYSPQVWACCL    211 - 280
RYIFNSSVQERVFSESGNFIIVLYSMTHKEPEFYECFPCDGKIPDFRFQLLTSKETLHLFKNVEPPDKNP    281 - 350
IRCELSAESQNAETEFFSKASKNFSIKRSSQKLSSGKMPIHDHDSGVEDEDFSPRPIPSPHPVSQKISKI    351 - 420
QPSVPELSLVLDGNFIESNPLPTPLEMVNNENPPLINHLEHLKPLQPQLYDEKHSPEVEAGEPSLRGIPN    421 - 490
QLNQDKPALLRHCKVRQPPAYKKGNPHTRNSIKPSSHNGPSHDIFEKLQTVSAGNVQNEEYPIRPSTLNS    491 - 560
RQSSLAPQSQPHDFVFSPHNSGRPMELQIPTPPLPSYCSTNVCRCCQHHSHIQYSPLNSWQGANTVGSIQ    561 - 630
DVQSEALQKHSLFHPSGCPALYCNAFCSSSSPIALRPQGDMGSCSPHSNIEPSPVARPPSHMDLCNPQPC    631 - 700
TVCMHTPKTESDNGMMGLSPDAYRFLTEQDRQLRLLQAQIQRLLEAQSLMPCSPKTTAVEDTVQAGRQME    701 - 770
LVSVEAQSSPGLHMRKGVSIAVSTGASLFWNAAGEDQEPDSQMKQDDTKISSEDMNFSVDINNEVTSLPG    771 - 840
SASSLKAVDIPSFEESNIAVEEEFNQPLSVSNSSLVVRKEPDVPVFFPSGQLAESVSMCLQTGPTGGASN    841 - 910
NSETSEEPKIEHVMQPLLHQPSDNQKIYQDLLGQVNHLLNSSSKETEQPSTKAVIISHECTRTQNVYHTK    911 - 980
KKTHHSRLVDKDCVLNATLKQLRSLGVKIDSPTKVKKNAHNVDHASVLACISPEAVISGLNCMSFANVGM    981 - 1050
SGLSPNGVDLSMEANAIALKYLNENQLSQLSVTRSNQNNCDPFSLLHINTDRSTVGLSLISPNNMSFATK   1051 - 1120
KYMKRYGLLQSSDNSEDEEEPPDNADSKSEYLLNQNLRSIPEQLGGQKEPSKNDHEIINCSNCESVGTNA   1121 - 1190
DTPVLRNITNEVLQTKAKQQLTEKPAFLVKNLKPSPAVNLRTGKAEFTQHPEKENEGDITIFPESLQPSE   1191 - 1260
TLKQMNSMNSVGTFLDVKRLRQLPKLF                                              1261 - 1287
//

Text Mined References (52)

PMID Year Title
26638075 2015 A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface.
26549353 2015 A novel function of the human oncogene Stil: Regulation of PC12 cell toxic susceptibility through the Shh pathway.
26188084 2015 STIL binding to Polo-box 3 of PLK4 regulates centriole duplication.
25658757 2015 Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings.
25385835 2015 RBM14 prevents assembly of centriolar protein complexes and maintains mitotic spindle integrity.
25342035 2014 Direct interaction of Plk4 with STIL ensures formation of a single procentriole per parental centriole.
25218063 2015 STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.
25187353 2014 Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
24853807 2014 Characterization of the human oncogene SCL/TAL1 interrupting locus (Stil) mediated Sonic hedgehog (Shh) signaling transduction in proliferating mammalian dopaminergic neurons.
24571118 2016 NKX2-5, SIL/TAL and TLX3/HOX11L2 expression in Egyptian pediatric T-cell acute lymphoblastic leukemia.
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