STIL

Protein identityUniProt · HPA

UniProt accession

Q15468

Gene

STIL

Ensembl

ENSG00000123473

Chromosome

1

Canonical length

1287 aa

Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Nucleoplasm,Centrosome,Basal body,Cytosol

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene encodes a cytoplasmic protein implicated in regulation of the mitotic spindle checkpoint, a regulatory pathway that monitors chromosome segregation during cell division to ensure the proper distribution of chromosomes to daughter cells. The protein is phosphorylated in mitosis and in response to activation of the spindle checkpoint, and disappears when cells transition to G1 phase. It interacts with a mitotic regulator, and its expression is required to efficiently activate the spindle checkpoint. It is proposed to regulate Cdc2 kinase activity during spindle checkpoint arrest. Chromosomal deletions that fuse this gene and the adjacent locus commonly occur in T cell leukemias, and are thought to arise through illegitimate V-(D)-J recombination events. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1287 residues, UniProt reviewed canonical sequence.

>Q15468|STIL
     1  MEPIYPFARP QMNTRFPSSR MVPFHFPPSK CALWNPTPTG DFIYLHLSYY RNPKLVVTEK
    61  TIRLAYRHAK QNKKNSSCFL LGSLTADEDE EGVTLTVDRF DPGREVPECL EITPTASLPG
   121  DFLIPCKVHT QELCSREMIV HSVDDFSSAL KALQCHICSK DSLDCGKLLS LRVHITSRES
   181  LDSVEFDLHW AAVTLANNFK CTPVKPIPII PTALARNLSS NLNISQVQGT YKYGYLTMDE
   241  TRKLLLLLES DPKVYSLPLV GIWLSGITHI YSPQVWACCL RYIFNSSVQE RVFSESGNFI
   301  IVLYSMTHKE PEFYECFPCD GKIPDFRFQL LTSKETLHLF KNVEPPDKNP IRCELSAESQ
   361  NAETEFFSKA SKNFSIKRSS QKLSSGKMPI HDHDSGVEDE DFSPRPIPSP HPVSQKISKI
   421  QPSVPELSLV LDGNFIESNP LPTPLEMVNN ENPPLINHLE HLKPLQPQLY DEKHSPEVEA
   481  GEPSLRGIPN QLNQDKPALL RHCKVRQPPA YKKGNPHTRN SIKPSSHNGP SHDIFEKLQT
   541  VSAGNVQNEE YPIRPSTLNS RQSSLAPQSQ PHDFVFSPHN SGRPMELQIP TPPLPSYCST
   601  NVCRCCQHHS HIQYSPLNSW QGANTVGSIQ DVQSEALQKH SLFHPSGCPA LYCNAFCSSS
   661  SPIALRPQGD MGSCSPHSNI EPSPVARPPS HMDLCNPQPC TVCMHTPKTE SDNGMMGLSP
   721  DAYRFLTEQD RQLRLLQAQI QRLLEAQSLM PCSPKTTAVE DTVQAGRQME LVSVEAQSSP
   781  GLHMRKGVSI AVSTGASLFW NAAGEDQEPD SQMKQDDTKI SSEDMNFSVD INNEVTSLPG
   841  SASSLKAVDI PSFEESNIAV EEEFNQPLSV SNSSLVVRKE PDVPVFFPSG QLAESVSMCL
   901  QTGPTGGASN NSETSEEPKI EHVMQPLLHQ PSDNQKIYQD LLGQVNHLLN SSSKETEQPS
   961  TKAVIISHEC TRTQNVYHTK KKTHHSRLVD KDCVLNATLK QLRSLGVKID SPTKVKKNAH
  1021  NVDHASVLAC ISPEAVISGL NCMSFANVGM SGLSPNGVDL SMEANAIALK YLNENQLSQL
  1081  SVTRSNQNNC DPFSLLHINT DRSTVGLSLI SPNNMSFATK KYMKRYGLLQ SSDNSEDEEE
  1141  PPDNADSKSE YLLNQNLRSI PEQLGGQKEP SKNDHEIINC SNCESVGTNA DTPVLRNITN
  1201  EVLQTKAKQQ LTEKPAFLVK NLKPSPAVNL RTGKAEFTQH PEKENEGDIT IFPESLQPSE
  1261  TLKQMNSMNS VGTFLDVKRL RQLPKLF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against STIL can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.56

Highest tissue expression

8.4 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about STIL.

Disease | AllUniProt

Conditions STIL is implicated in, by any mechanism.

• Microcephaly 7, primary, autosomal recessive (MCPH7) MIM:612703

Disease | GeneticClinVar

29 pathogenic / likely-pathogenic of 472 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Microcephaly 7, primary, autosomal recessive
• Abnormal brain morphology
• Myoepithelial tumor
• STIL-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.38

gnomAD pLI

0.2

gnomAD missense Z

1.13

DepMap mean gene effect

-0.63

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• centrosome duplication
• determination of left/right symmetry
• embryonic axis specification
• floor plate development
• forebrain development
• heart looping
• in utero embryonic development
• microtubule organizing center organization
• mitotic spindle organization
• multicellular organism growth
• negative regulation of apoptotic process
• neural tube closure
• neural tube development
• notochord development
• positive regulation of centriole replication
• positive regulation of G1/S transition of mitotic cell cycle
• positive regulation of spindle assembly
• protein localization to centrosome
• regulation of centriole replication
• regulation of mitotic spindle organization
• smoothened signaling pathway

Molecular functions

• identical protein binding

Cellular components

• cell cortex
• centriole
• centrosome
• ciliary basal body
• cytoplasm
• cytosol
• microtubule organizing center
• nucleoplasm
• procentriole replication complex

Protein domainsUniProt · Pfam · InterPro

• STIL
• STIL, coiled coil region
• STIL, N-terminal domain
• STIL, proline-rich motif
• STIL N-terminal domain
• STIL coiled coil region
• Proline-rich motif in STIL

KeywordsUniProt

• Acetylation
• Chromosomal rearrangement
• Cytoplasm
• Cytoskeleton
• Developmental protein
• Intellectual disability
• Phosphoprotein
• Primary microcephaly
• Proto-oncogene
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of STIL in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CPAP
• PIN1
• RBM14
• CEP85
• PLK4
• SASS6