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    Skil SKI-like [ Mus musculus (house mouse) ]

    Gene ID: 20482, updated on 2-Nov-2024

    Summary

    Official Symbol
    Skilprovided by MGI
    Official Full Name
    SKI-likeprovided by MGI
    Primary source
    MGI:MGI:106203
    See related
    Ensembl:ENSMUSG00000027660 AllianceGenome:MGI:106203
    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
    sno; Skir; SnoN
    Summary
    This gene encodes a member of a small family of proteins that play a key role in the response of cells to extracellular growth signals. The encoded protein regulates members of the transforming growth factor beta signaling pathway. It is highly expressed in certain cancer cells, where it may have both tumor-suppressing and tumor-promoting roles. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 8.0), CNS E18 (RPKM 5.8) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Skil in Genome Data Viewer
    Location:
    3 A3; 3 15.12 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (31149259..31176741)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (31095058..31122923)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene protein kinase C, iota Neighboring gene STARR-seq mESC enhancer starr_07310 Neighboring gene STARR-seq mESC enhancer starr_07312 Neighboring gene microRNA 7008 Neighboring gene predicted gene, 33641 Neighboring gene predicted gene, 33694 Neighboring gene STARR-positive B cell enhancer ABC_E9544 Neighboring gene STARR-positive B cell enhancer ABC_E2067 Neighboring gene STARR-seq mESC enhancer starr_07316 Neighboring gene STARR-positive B cell enhancer ABC_E9545 Neighboring gene claudin 11 Neighboring gene STARR-seq mESC enhancer starr_07318 Neighboring gene solute carrier family 7 (cationic amino acid transporter, y+ system), member 14 Neighboring gene predicted gene 15496 Neighboring gene STARR-seq mESC enhancer starr_07319

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data 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 (3) 
    • Targeted (7)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    acts_upstream_of_or_within blastocyst formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of extrinsic apoptotic signaling pathway via death domain receptors IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of intrinsic apoptotic signaling pathway in response to DNA damage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within lens fiber cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within lymphocyte homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within negative regulation of cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within negative regulation of transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
     
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of axonogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of axonogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of extrinsic apoptotic signaling pathway via death domain receptors IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to cytokine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to growth factor ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in skeletal muscle tissue development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in PML body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in acrosomal vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in acrosomal vesicle ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    part_of transcription regulator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    ski-like protein
    Names
    ski-related oncogene
    ski/sno related

    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_001039090.3NP_001034179.1  ski-like protein isoform b

      See identical proteins and their annotated locations for NP_001034179.1

      Status: REVIEWED

      Source sequence(s)
      AC117590
      Consensus CDS
      CCDS50886.1
      UniProtKB/TrEMBL
      Q3TB81, Q60979, Q64741
      Related
      ENSMUSP00000113256.2, ENSMUST00000118470.8
      Conserved Domains (3) summary
      smart01046
      Location:258353
      c-SKI_SMAD_bind; c-SKI Smad4 binding domain
      TIGR02168
      Location:481620
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cd21084
      Location:134233
      DHD_Sno; Dachshund-homology domain found in Ski-like protein (Sno) and similar proteins
    2. NM_001271772.2NP_001258701.1  ski-like protein isoform c

      Status: REVIEWED

      Source sequence(s)
      AC117590
      Consensus CDS
      CCDS71230.1
      UniProtKB/TrEMBL
      D3Z7C5, Q60979, Q64741
      Related
      ENSMUSP00000113054.2, ENSMUST00000117728.8
      Conserved Domains (5) summary
      smart01046
      Location:178273
      c-SKI_SMAD_bind; c-SKI Smad4 binding domain
      pfam01442
      Location:402540
      Apolipoprotein; Apolipoprotein A1/A4/E domain
      pfam02437
      Location:53152
      Ski_Sno; SKI/SNO/DAC family
      cd16269
      Location:504515
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:389537
      GBP_C; Guanylate-binding protein, C-terminal domain
    3. NM_001398558.1NP_001385487.1  ski-like protein isoform a

      Status: REVIEWED

      Source sequence(s)
      AC117590
      UniProtKB/Swiss-Prot
      Q60665, Q60702, Q78E90, Q80VK5
      Conserved Domains (3) summary
      smart01046
      Location:258353
      c-SKI_SMAD_bind; c-SKI Smad4 binding domain
      TIGR02168
      Location:527666
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cd21084
      Location:134233
      DHD_Sno; Dachshund-homology domain found in Ski-like protein (Sno) and similar proteins
    4. NM_001398559.1NP_001385488.1  ski-like protein isoform b

      Status: REVIEWED

      Source sequence(s)
      AC117590
      UniProtKB/TrEMBL
      Q3TB81
      Conserved Domains (3) summary
      smart01046
      Location:258353
      c-SKI_SMAD_bind; c-SKI Smad4 binding domain
      TIGR02168
      Location:481620
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cd21084
      Location:134233
      DHD_Sno; Dachshund-homology domain found in Ski-like protein (Sno) and similar proteins
    5. NM_001398560.1NP_001385489.1  ski-like protein isoform d

      Status: REVIEWED

      Source sequence(s)
      AC117590
      Conserved Domains (3) summary
      smart01046
      Location:258353
      c-SKI_SMAD_bind; c-SKI Smad4 binding domain
      TIGR02168
      Location:481620
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cd21084
      Location:134233
      DHD_Sno; Dachshund-homology domain found in Ski-like protein (Sno) and similar proteins
    6. NM_011386.4NP_035516.2  ski-like protein isoform a

      See identical proteins and their annotated locations for NP_035516.2

      Status: REVIEWED

      Source sequence(s)
      AC117590
      Consensus CDS
      CCDS38408.1
      UniProtKB/Swiss-Prot
      Q60665, Q60702, Q78E90, Q80VK5
      UniProtKB/TrEMBL
      Q60979, Q64741
      Related
      ENSMUSP00000029194.6, ENSMUST00000029194.12
      Conserved Domains (3) summary
      smart01046
      Location:258353
      c-SKI_SMAD_bind; c-SKI Smad4 binding domain
      TIGR02168
      Location:527666
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cd21084
      Location:134233
      DHD_Sno; Dachshund-homology domain found in Ski-like protein (Sno) and similar proteins

    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_000069.7 Reference GRCm39 C57BL/6J

      Range
      31149259..31176741
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)