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    Stil Scl/Tal1 interrupting locus [ Mus musculus (house mouse) ]

    Gene ID: 20460, updated on 27-Nov-2024

    Summary

    Official Symbol
    Stilprovided by MGI
    Official Full Name
    Scl/Tal1 interrupting locusprovided by MGI
    Primary source
    MGI:MGI:107477
    See related
    Ensembl:ENSMUSG00000028718 AllianceGenome:MGI:107477
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Sil
    Summary
    This gene encodes a centrosomal protein ubiquitously expressed in proliferating cells and during early embryonic development. Mice lacking the encoded protein die in utero with marked growth retardation, defects in the developing neural fold and randomization of left-right asymmetry. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]
    Expression
    Biased expression in CNS E11.5 (RPKM 6.3), liver E14 (RPKM 5.4) and 14 other tissues See more
    Orthologs
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    Genomic context

    See Stil in Genome Data Viewer
    Location:
    4 D1; 4 52.73 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (114857287..114900404)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (115000108..115043203)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer mm9_chr4:114620034-114620334 Neighboring gene predicted gene, 40229 Neighboring gene cytidine/uridine monophosphate kinase 1 Neighboring gene STARR-positive B cell enhancer ABC_E2705 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:114672416-114672599 Neighboring gene STARR-seq mESC enhancer starr_11107 Neighboring gene predicted gene, 52674 Neighboring gene predicted gene, 33786 Neighboring gene T cell acute lymphocytic leukemia 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (1)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within centrosome duplication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within centrosome duplication ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    acts_upstream_of_or_within determination of left/right symmetry IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic axis specification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within floor plate development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within forebrain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within heart looping IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in microtubule organizing center organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within mitotic spindle checkpoint signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitotic spindle organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within mitotic spindle organization ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    acts_upstream_of_or_within multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neural tube closure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neural tube development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within notochord development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of G1/S transition of mitotic cell cycle ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of centriole replication ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of cyclin-dependent protein serine/threonine kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of spindle assembly NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in protein localization to centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within protein localization to centrosome ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    involved_in regulation of centriole replication ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of centriole replication ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of mitotic spindle organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in smoothened signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cell cortex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in centriole ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    located_in centriole ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in microtubule organizing center IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    part_of procentriole replication complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    SCL-interrupting locus protein homolog
    Names
    Tal1 interrupting locus

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001304551.1NP_001291480.1  SCL-interrupting locus protein homolog isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 5' region and uses a downstream start codon compared to variant 1. It encodes isoform 3 which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AL670035, BC087545, CJ098395
      UniProtKB/Swiss-Prot
      A2AD39, Q60988, Q80VK7, Q8C7U6, Q8CEL7, Q99KL4
      Conserved Domains (1) summary
      pfam15253
      Location:1200
      STIL_N; SCL-interrupting locus protein N-terminus
    2. NM_001304553.1NP_001291482.1  SCL-interrupting locus protein homolog isoform 5

      See identical proteins and their annotated locations for NP_001291482.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an alternate internal exon and uses a downstream start codon compared to variant 1. It encodes isoform 5 which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      BC060706, CJ098395
    3. NM_001304555.1NP_001291484.1  SCL-interrupting locus protein homolog isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      BC060706, CJ098395
      UniProtKB/Swiss-Prot
      A2AD39, Q60988, Q80VK7, Q8C7U6, Q8CEL7, Q99KL4
      Conserved Domains (1) summary
      pfam15253
      Location:22426
      STIL_N; SCL-interrupting locus protein N-terminus
    4. NM_001304559.1NP_001291488.1  SCL-interrupting locus protein homolog isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an internal in-frame exon compared to variant 1. This variant encodes isoform 4, which is shorter than isoform 1.
      Source sequence(s)
      AK049550, BC060706, CJ098395
      UniProtKB/TrEMBL
      Q8BQI9
      Conserved Domains (1) summary
      pfam15253
      Location:22410
      STIL_N; SCL-interrupting locus protein N-terminus
    5. NM_009185.3NP_033211.2  SCL-interrupting locus protein homolog isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK019471, AK049223, BC060706, CJ098467
      Consensus CDS
      CCDS18485.1
      UniProtKB/Swiss-Prot
      A2AD39, Q60988, Q80VK7, Q8C7U6, Q8CEL7, Q99KL4
      UniProtKB/TrEMBL
      A0AAA9U4T8
      Related
      ENSMUSP00000030490.7, ENSMUST00000030490.13
      Conserved Domains (1) summary
      pfam15253
      Location:22426
      STIL_N; SCL-interrupting locus protein N-terminus

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      114857287..114900404
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017320088.2XP_017175577.1  SCL-interrupting locus protein homolog isoform X1

      UniProtKB/Swiss-Prot
      A2AD39, Q60988, Q80VK7, Q8C7U6, Q8CEL7, Q99KL4
      Conserved Domains (1) summary
      pfam15253
      Location:22398
      STIL_N; SCL-interrupting locus protein N-terminus
    2. XM_030253376.2XP_030109236.1  SCL-interrupting locus protein homolog isoform X2

      Conserved Domains (1) summary
      pfam15253
      Location:1155
      STIL_N; SCL-interrupting locus protein N-terminus

    RNA

    1. XR_004941856.1 RNA Sequence

      Related
      ENSMUST00000141933.8