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Protein

SCL-interrupting locus protein

Gene

STIL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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).3 Publications

GO - Biological processi

  • cell proliferation Source: ProtInc
  • centrosome duplication Source: MGI
  • determination of left/right symmetry Source: BHF-UCL
  • embryonic axis specification Source: BHF-UCL
  • floor plate development Source: BHF-UCL
  • forebrain development Source: BHF-UCL
  • heart looping Source: BHF-UCL
  • in utero embryonic development Source: BHF-UCL
  • mitotic spindle organization Source: MGI
  • multicellular organism growth Source: BHF-UCL
  • negative regulation of apoptotic process Source: BHF-UCL
  • neural tube closure Source: BHF-UCL
  • neural tube development Source: BHF-UCL
  • notochord development Source: BHF-UCL
  • protein localization to centrosome Source: MGI
  • regulation of centriole replication Source: UniProtKB
  • smoothened signaling pathway Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Enzyme and pathway databases

BioCyciZFISH:ENSG00000123473-MONOMER.
SIGNORiQ15468.

Names & Taxonomyi

Protein namesi
Recommended name:
SCL-interrupting locus protein
Alternative name(s):
TAL-1-interrupting locus protein
Gene namesi
Name:STIL
Synonyms:SIL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:10879. STIL.

Subcellular locationi

GO - Cellular componenti

  • centriole Source: UniProtKB
  • centrosome Source: UniProtKB
  • cytoplasm Source: MGI
  • cytosol Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

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.

Microcephaly 7, primary, autosomal recessive (MCPH7)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:612703
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072404798L → W in MCPH7. 1 PublicationCorresponds to variant rs398122976dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Mental retardation, Primary microcephaly, Proto-oncogene

Organism-specific databases

DisGeNETi6491.
MalaCardsiSTIL.
MIMi612703. phenotype.
OpenTargetsiENSG00000123473.
Orphaneti2512. Autosomal recessive primary microcephaly.
99861. Precursor T-cell acute lymphoblastic leukemia.
PharmGKBiPA35780.

Polymorphism and mutation databases

BioMutaiSTIL.
DMDMi122070597.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002713321 – 1287SCL-interrupting locus proteinAdd BLAST1287

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei395PhosphoserineCombined sources1
Modified residuei753PhosphoserineCombined sources1
Modified residuei779PhosphoserineCombined sources1
Modified residuei1135PhosphoserineCombined sources1

Post-translational modificationi

Ubiquitinated.1 Publication
Phosphorylated following the activation of the mitotic checkpoint.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ15468.
MaxQBiQ15468.
PaxDbiQ15468.
PeptideAtlasiQ15468.
PRIDEiQ15468.

PTM databases

iPTMnetiQ15468.
PhosphoSitePlusiQ15468.

Expressioni

Tissue specificityi

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.2 Publications

Inductioni

Down-regulated when cell proliferation ceased. Accumulates during G2 phase and falls at completion of the cell cycle.1 Publication

Gene expression databases

BgeeiENSG00000123473.
CleanExiHS_STIL.
ExpressionAtlasiQ15468. baseline and differential.
GenevisibleiQ15468. HS.

Organism-specific databases

HPAiHPA046543.

Interactioni

Subunit structurei

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).By similarity2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
CENPJQ9HC7713EBI-7488405,EBI-946194
SASS6Q6UVJ04EBI-7488405,EBI-1570153

Protein-protein interaction databases

BioGridi112382. 91 interactors.
DIPiDIP-60580N.
IntActiQ15468. 71 interactors.
MINTiMINT-8340696.
STRINGi9606.ENSP00000360944.

Structurei

Secondary structure

11287
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi722 – 749Combined sources28

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4YYPX-ray2.60B720-751[»]
ProteinModelPortaliQ15468.
SMRiQ15468.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 1018Interaction with RBM141 PublicationAdd BLAST1018
Regioni231 – 781Interaction with CENPJ2 PublicationsAdd BLAST551
Regioni584 – 779PIN1-bindingBy similarityAdd BLAST196

Phylogenomic databases

eggNOGiENOG410IF1P. Eukaryota.
ENOG4111HAF. LUCA.
GeneTreeiENSGT00390000007310.
HOGENOMiHOG000231284.
HOVERGENiHBG079548.
InParanoidiQ15468.
KOiK16724.
OMAiHLFKNVE.
OrthoDBiEOG091G0KB1.
PhylomeDBiQ15468.
TreeFamiTF331178.

Family and domain databases

InterProiIPR026123. Sil.
[Graphical view]
PANTHERiPTHR15128. PTHR15128. 1 hit.
PfamiPF15253. STIL_N. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q15468-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEPIYPFARP QMNTRFPSSR MVPFHFPPSK CALWNPTPTG DFIYLHLSYY
60 70 80 90 100
RNPKLVVTEK TIRLAYRHAK QNKKNSSCFL LGSLTADEDE EGVTLTVDRF
110 120 130 140 150
DPGREVPECL EITPTASLPG DFLIPCKVHT QELCSREMIV HSVDDFSSAL
160 170 180 190 200
KALQCHICSK DSLDCGKLLS LRVHITSRES LDSVEFDLHW AAVTLANNFK
210 220 230 240 250
CTPVKPIPII PTALARNLSS NLNISQVQGT YKYGYLTMDE TRKLLLLLES
260 270 280 290 300
DPKVYSLPLV GIWLSGITHI YSPQVWACCL RYIFNSSVQE RVFSESGNFI
310 320 330 340 350
IVLYSMTHKE PEFYECFPCD GKIPDFRFQL LTSKETLHLF KNVEPPDKNP
360 370 380 390 400
IRCELSAESQ NAETEFFSKA SKNFSIKRSS QKLSSGKMPI HDHDSGVEDE
410 420 430 440 450
DFSPRPIPSP HPVSQKISKI QPSVPELSLV LDGNFIESNP LPTPLEMVNN
460 470 480 490 500
ENPPLINHLE HLKPLQPQLY DEKHSPEVEA GEPSLRGIPN QLNQDKPALL
510 520 530 540 550
RHCKVRQPPA YKKGNPHTRN SIKPSSHNGP SHDIFEKLQT VSAGNVQNEE
560 570 580 590 600
YPIRPSTLNS RQSSLAPQSQ PHDFVFSPHN SGRPMELQIP TPPLPSYCST
610 620 630 640 650
NVCRCCQHHS HIQYSPLNSW QGANTVGSIQ DVQSEALQKH SLFHPSGCPA
660 670 680 690 700
LYCNAFCSSS SPIALRPQGD MGSCSPHSNI EPSPVARPPS HMDLCNPQPC
710 720 730 740 750
TVCMHTPKTE SDNGMMGLSP DAYRFLTEQD RQLRLLQAQI QRLLEAQSLM
760 770 780 790 800
PCSPKTTAVE DTVQAGRQME LVSVEAQSSP GLHMRKGVSI AVSTGASLFW
810 820 830 840 850
NAAGEDQEPD SQMKQDDTKI SSEDMNFSVD INNEVTSLPG SASSLKAVDI
860 870 880 890 900
PSFEESNIAV EEEFNQPLSV SNSSLVVRKE PDVPVFFPSG QLAESVSMCL
910 920 930 940 950
QTGPTGGASN NSETSEEPKI EHVMQPLLHQ PSDNQKIYQD LLGQVNHLLN
960 970 980 990 1000
SSSKETEQPS TKAVIISHEC TRTQNVYHTK KKTHHSRLVD KDCVLNATLK
1010 1020 1030 1040 1050
QLRSLGVKID SPTKVKKNAH NVDHASVLAC ISPEAVISGL NCMSFANVGM
1060 1070 1080 1090 1100
SGLSPNGVDL SMEANAIALK YLNENQLSQL SVTRSNQNNC DPFSLLHINT
1110 1120 1130 1140 1150
DRSTVGLSLI SPNNMSFATK KYMKRYGLLQ SSDNSEDEEE PPDNADSKSE
1160 1170 1180 1190 1200
YLLNQNLRSI PEQLGGQKEP SKNDHEIINC SNCESVGTNA DTPVLRNITN
1210 1220 1230 1240 1250
EVLQTKAKQQ LTEKPAFLVK NLKPSPAVNL RTGKAEFTQH PEKENEGDIT
1260 1270 1280
IFPESLQPSE TLKQMNSMNS VGTFLDVKRL RQLPKLF
Length:1,287
Mass (Da):142,955
Last modified:January 9, 2007 - v2
Checksum:i7F15BEDA8717659C
GO
Isoform 2 (identifier: Q15468-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     872-872: N → NS

Note: No experimental confirmation available.
Show »
Length:1,288
Mass (Da):143,042
Checksum:i56143155E2FBA492
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti70 – 71KQ → NE in AAA60550 (PubMed:1922059).Curated2
Sequence conflicti70 – 71KQ → NE in AAK51418 (PubMed:12438740).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02987086A → V.2 PublicationsCorresponds to variant rs3125630dbSNPEnsembl.1
Natural variantiVAR_072404798L → W in MCPH7. 1 PublicationCorresponds to variant rs398122976dbSNPEnsembl.1
Natural variantiVAR_029871984H → R.1 PublicationCorresponds to variant rs13376679dbSNPEnsembl.1
Natural variantiVAR_0298721012P → R.1 Publication1
Natural variantiVAR_0513861145A → V.Corresponds to variant rs3766317dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_022301872N → NS in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M74558 mRNA. Translation: AAA60550.1.
AF349657
, AF349642, AF349643, AF349645, AF349647, AF349649, AF349651, AF349653, AF349656, AF349655, AF349654, AF349652, AF349650, AF349648, AF349646, AF349644 Genomic DNA. Translation: AAK51418.1.
CR749851 mRNA. Translation: CAH18699.1.
AL513322, AL135960 Genomic DNA. Translation: CAI13468.1.
AL135960, AL513322 Genomic DNA. Translation: CAI19733.1.
BC126223 mRNA. Translation: AAI26224.1.
CCDSiCCDS41329.1. [Q15468-2]
CCDS548.1. [Q15468-1]
PIRiA41685.
RefSeqiNP_001041631.1. NM_001048166.1. [Q15468-2]
NP_001269865.1. NM_001282936.1. [Q15468-1]
NP_001269866.1. NM_001282937.1.
NP_001269867.1. NM_001282938.1.
NP_001269868.1. NM_001282939.1.
NP_003026.2. NM_003035.2. [Q15468-1]
XP_006710897.1. XM_006710834.3. [Q15468-2]
XP_011540293.1. XM_011541991.2. [Q15468-2]
XP_011540294.1. XM_011541992.2. [Q15468-2]
UniGeneiHs.525198.

Genome annotation databases

EnsembliENST00000360380; ENSP00000353544; ENSG00000123473. [Q15468-1]
ENST00000371877; ENSP00000360944; ENSG00000123473. [Q15468-2]
GeneIDi6491.
KEGGihsa:6491.
UCSCiuc001crd.2. human. [Q15468-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M74558 mRNA. Translation: AAA60550.1.
AF349657
, AF349642, AF349643, AF349645, AF349647, AF349649, AF349651, AF349653, AF349656, AF349655, AF349654, AF349652, AF349650, AF349648, AF349646, AF349644 Genomic DNA. Translation: AAK51418.1.
CR749851 mRNA. Translation: CAH18699.1.
AL513322, AL135960 Genomic DNA. Translation: CAI13468.1.
AL135960, AL513322 Genomic DNA. Translation: CAI19733.1.
BC126223 mRNA. Translation: AAI26224.1.
CCDSiCCDS41329.1. [Q15468-2]
CCDS548.1. [Q15468-1]
PIRiA41685.
RefSeqiNP_001041631.1. NM_001048166.1. [Q15468-2]
NP_001269865.1. NM_001282936.1. [Q15468-1]
NP_001269866.1. NM_001282937.1.
NP_001269867.1. NM_001282938.1.
NP_001269868.1. NM_001282939.1.
NP_003026.2. NM_003035.2. [Q15468-1]
XP_006710897.1. XM_006710834.3. [Q15468-2]
XP_011540293.1. XM_011541991.2. [Q15468-2]
XP_011540294.1. XM_011541992.2. [Q15468-2]
UniGeneiHs.525198.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4YYPX-ray2.60B720-751[»]
ProteinModelPortaliQ15468.
SMRiQ15468.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112382. 91 interactors.
DIPiDIP-60580N.
IntActiQ15468. 71 interactors.
MINTiMINT-8340696.
STRINGi9606.ENSP00000360944.

PTM databases

iPTMnetiQ15468.
PhosphoSitePlusiQ15468.

Polymorphism and mutation databases

BioMutaiSTIL.
DMDMi122070597.

Proteomic databases

EPDiQ15468.
MaxQBiQ15468.
PaxDbiQ15468.
PeptideAtlasiQ15468.
PRIDEiQ15468.

Protocols and materials databases

DNASUi6491.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000360380; ENSP00000353544; ENSG00000123473. [Q15468-1]
ENST00000371877; ENSP00000360944; ENSG00000123473. [Q15468-2]
GeneIDi6491.
KEGGihsa:6491.
UCSCiuc001crd.2. human. [Q15468-1]

Organism-specific databases

CTDi6491.
DisGeNETi6491.
GeneCardsiSTIL.
GeneReviewsiSTIL.
HGNCiHGNC:10879. STIL.
HPAiHPA046543.
MalaCardsiSTIL.
MIMi181590. gene.
612703. phenotype.
neXtProtiNX_Q15468.
OpenTargetsiENSG00000123473.
Orphaneti2512. Autosomal recessive primary microcephaly.
99861. Precursor T-cell acute lymphoblastic leukemia.
PharmGKBiPA35780.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF1P. Eukaryota.
ENOG4111HAF. LUCA.
GeneTreeiENSGT00390000007310.
HOGENOMiHOG000231284.
HOVERGENiHBG079548.
InParanoidiQ15468.
KOiK16724.
OMAiHLFKNVE.
OrthoDBiEOG091G0KB1.
PhylomeDBiQ15468.
TreeFamiTF331178.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000123473-MONOMER.
SIGNORiQ15468.

Miscellaneous databases

ChiTaRSiSTIL. human.
GeneWikiiSTIL.
GenomeRNAii6491.
PROiQ15468.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000123473.
CleanExiHS_STIL.
ExpressionAtlasiQ15468. baseline and differential.
GenevisibleiQ15468. HS.

Family and domain databases

InterProiIPR026123. Sil.
[Graphical view]
PANTHERiPTHR15128. PTHR15128. 1 hit.
PfamiPF15253. STIL_N. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSTIL_HUMAN
AccessioniPrimary (citable) accession number: Q15468
Secondary accession number(s): Q5T0C5, Q68CN9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: January 9, 2007
Last modified: November 2, 2016
This is version 123 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.