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Entry version 145 (16 Oct 2019)
Sequence version 2 (09 Jan 2007)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q15468

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
SCL-interrupting locus protein
Alternative name(s):
TAL-1-interrupting locus protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:STIL
Synonyms:SIL
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:10879 STIL

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
181590 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q15468

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.7 Publications
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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_072404798L → W in MCPH7. 1 PublicationCorresponds to variant dbSNP:rs398122976EnsemblClinVar.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNET

More...
DisGeNETi
6491

MalaCards human disease database

More...
MalaCardsi
STIL
MIMi612703 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000123473

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
2512 Autosomal recessive primary microcephaly
99861 Precursor T-cell acute lymphoblastic leukemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35780

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q15468

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
STIL

Domain mapping of disease mutations (DMDM)

More...
DMDMi
122070597

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002713321 – 1287SCL-interrupting locus proteinAdd BLAST1287

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1
Modified residuei395PhosphoserineCombined sources1
Modified residuei753PhosphoserineCombined sources1
Modified residuei779PhosphoserineCombined sources1
Modified residuei1135PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

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

Keywords - PTMi

Acetylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q15468

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q15468

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q15468

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q15468

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q15468

PeptideAtlas

More...
PeptideAtlasi
Q15468

PRoteomics IDEntifications database

More...
PRIDEi
Q15468

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
60604 [Q15468-1]
60605 [Q15468-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q15468

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q15468

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000123473 Expressed in 184 organ(s), highest expression level in secondary oocyte

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q15468 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q15468 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA046543

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
112382, 100 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...
ComplexPortali
CPX-1159 CPAP-STIL complex

Database of interacting proteins

More...
DIPi
DIP-60580N

Protein interaction database and analysis system

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IntActi
Q15468, 86 interactors

Molecular INTeraction database

More...
MINTi
Q15468

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000360944

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11287
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q15468

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 1018Interaction with RBM141 PublicationAdd BLAST1018
Regioni231 – 781Interaction with CENPJ2 PublicationsAdd BLAST551
Regioni584 – 779PIN1-bindingBy similarityAdd BLAST196

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IF1P Eukaryota
ENOG4111HAF LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000007310

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231284

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q15468

KEGG Orthology (KO)

More...
KOi
K16724

Identification of Orthologs from Complete Genome Data

More...
OMAi
QHHGHIQ

Database of Orthologous Groups

More...
OrthoDBi
342602at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q15468

TreeFam database of animal gene trees

More...
TreeFami
TF331178

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR026123 Sil

The PANTHER Classification System

More...
PANTHERi
PTHR15128 PTHR15128, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15253 STIL_N, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PSF2E9PSF2_HUMAN
SCL-interrupting locus protein
STIL
1,270Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0A0MR87A0A0A0MR87_HUMAN
SCL-interrupting locus protein
STIL
1,241Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y702H0Y702_HUMAN
SCL-interrupting locus protein
STIL
211Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5T0C7Q5T0C7_HUMAN
SCL-interrupting locus protein
STIL RP1-18D14.8-002
918Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5T0C8Q5T0C8_HUMAN
SCL-interrupting locus protein
STIL
92Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 → V2 PublicationsCorresponds to variant dbSNP:rs3125630EnsemblClinVar.1
Natural variantiVAR_072404798L → W in MCPH7. 1 PublicationCorresponds to variant dbSNP:rs398122976EnsemblClinVar.1
Natural variantiVAR_029871984H → R1 PublicationCorresponds to variant dbSNP:rs13376679Ensembl.1
Natural variantiVAR_0298721012P → R1 Publication1
Natural variantiVAR_0513861145A → V. Corresponds to variant dbSNP:rs3766317Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_022301872N → NS in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS41329.1 [Q15468-2]
CCDS548.1 [Q15468-1]

Protein sequence database of the Protein Information Resource

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PIRi
A41685

NCBI Reference Sequences

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RefSeqi
NP_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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000360380; ENSP00000353544; ENSG00000123473 [Q15468-1]
ENST00000371877; ENSP00000360944; ENSG00000123473 [Q15468-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
6491

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6491

UCSC genome browser

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UCSCi
uc001crd.2 human [Q15468-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4YYPX-ray2.60B720-751[»]
5LHWX-ray0.91A726-750[»]
5LHZX-ray2.51D/E/F726-750[»]
SMRiQ15468
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi112382, 100 interactors
ComplexPortaliCPX-1159 CPAP-STIL complex
DIPiDIP-60580N
IntActiQ15468, 86 interactors
MINTiQ15468
STRINGi9606.ENSP00000360944

PTM databases

iPTMnetiQ15468
PhosphoSitePlusiQ15468

Polymorphism and mutation databases

BioMutaiSTIL
DMDMi122070597

Proteomic databases

EPDiQ15468
jPOSTiQ15468
MassIVEiQ15468
MaxQBiQ15468
PaxDbiQ15468
PeptideAtlasiQ15468
PRIDEiQ15468
ProteomicsDBi60604 [Q15468-1]
60605 [Q15468-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
6491

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
6491
DisGeNETi6491

GeneCards: human genes, protein and diseases

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GeneCardsi
STIL
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

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IF1P Eukaryota
ENOG4111HAF LUCA
GeneTreeiENSGT00390000007310
HOGENOMiHOG000231284
InParanoidiQ15468
KOiK16724
OMAiQHHGHIQ
OrthoDBi342602at2759
PhylomeDBiQ15468
TreeFamiTF331178

Enzyme and pathway databases

SIGNORiQ15468

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
STIL human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
STIL

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
6491
PharosiQ15468

Protein Ontology

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PROi
PR:Q15468

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000123473 Expressed in 184 organ(s), highest expression level in secondary oocyte
ExpressionAtlasiQ15468 baseline and differential
GenevisibleiQ15468 HS

Family and domain databases

InterProiView protein in InterPro
IPR026123 Sil
PANTHERiPTHR15128 PTHR15128, 1 hit
PfamiView protein in Pfam
PF15253 STIL_N, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSTIL_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q15468
Secondary accession number(s): Q5T0C5, Q68CN9
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: January 9, 2007
Last modified: October 16, 2019
This is version 145 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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
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