Homo sapiens Gene: STIL
Summary
InnateDB Gene IDBG-98269.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol STIL
Gene Name SCL/TAL1 interrupting locus
Synonyms MCPH7; SIL
Species Homo sapiens
Ensembl Gene ENSG00000123473
Encoded Proteins
SCL/TAL1 interrupting locus
SCL/TAL1 interrupting locus
SCL/TAL1 interrupting locus
SCL/TAL1 interrupting locus
SCL/TAL1 interrupting locus
SCL/TAL1 interrupting locus
SCL/TAL1 interrupting locus
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:47250139-47314147
Strand Reverse strand
Band p33
Transcripts
ENST00000371877 ENSP00000360944
ENST00000337817 ENSP00000337367
ENST00000360380 ENSP00000353544
ENST00000396221 ENSP00000379523
ENST00000447475 ENSP00000411664
ENST00000418131
ENST00000436811 ENSP00000409087
ENST00000433827
ENST00000413565 ENSP00000412019
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 6 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0000578 embryonic axis specification
GO:0001701 in utero embryonic development
GO:0001843 neural tube closure
GO:0001947 heart looping
GO:0007224 smoothened signaling pathway
GO:0007368 determination of left/right symmetry
GO:0008283 cell proliferation
GO:0021915 neural tube development
GO:0030900 forebrain development
GO:0030903 notochord development
GO:0033504 floor plate development
GO:0035264 multicellular organism growth
GO:0043066 negative regulation of apoptotic process
Cellular Component
GO:0005813 centrosome
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
KEGG
INOH
PID NCI
Signaling events mediated by the Hedgehog family
Cross-References
SwissProt Q15468
TrEMBL
UniProt Splice Variant
Entrez Gene 6491
UniGene Hs.525198
RefSeq NM_001282938 NM_001282939 XM_006710835 NM_001048166 NM_001282936 NM_001282937 NM_003035 XM_006710834
HUGO HGNC:10879
OMIM 181590
CCDS CCDS72786 CCDS41329 CCDS548 CCDS72785
HPRD 01627
IMGT
EMBL AF349642 AF349643 AF349644 AF349645 AF349646 AF349647 AF349648 AF349649 AF349650 AF349651 AF349652 AF349653 AF349654 AF349655 AF349656 AF349657 AL135960 AL513322 BC126223 CR749851 M74558
GenPept AAA60550 AAI26224 AAK51418 CAH18699 CAI13468 CAI19733
RNA Seq Atlas 6491