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    Ski ski sarcoma viral oncogene homolog (avian) [ Mus musculus (house mouse) ]

    Gene ID: 20481, updated on 5-Mar-2024

    Summary

    Official Symbol
    Skiprovided by MGI
    Official Full Name
    ski sarcoma viral oncogene homolog (avian)provided by MGI
    Primary source
    MGI:MGI:98310
    See related
    Ensembl:ENSMUSG00000029050 AllianceGenome:MGI:98310
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    2310012I02Rik; 2610001A11Rik
    Summary
    Enables chromatin binding activity and histone deacetylase inhibitor activity. Acts upstream of or within several processes, including animal organ development; negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway; and regulation of transcription by RNA polymerase II. Located in cytoplasm and nucleus. Part of transcription repressor complex. Is expressed in embryo; forelimb bud; and forelimb interdigital region. Orthologous to human SKI (SKI proto-oncogene). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in lung adult (RPKM 51.4), adrenal adult (RPKM 44.4) and 27 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    4 E2; 4 86.17 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (155238532..155307536, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (155154075..155222535, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E10295 Neighboring gene peroxisomal biogenesis factor 10 Neighboring gene STARR-positive B cell enhancer ABC_E1295 Neighboring gene retention in endoplasmic reticulum sorting receptor 1 Neighboring gene MORN repeat containing 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:154500916-154501099 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:154524494-154524677 Neighboring gene STARR-positive B cell enhancer mm9_chr4:154536903-154537203 Neighboring gene STARR-seq mESC enhancer starr_12252 Neighboring gene STARR-seq mESC enhancer starr_12254 Neighboring gene VISTA enhancer mm318 Neighboring gene predicted gene, 42364 Neighboring gene predicted gene, 52713

    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)
    • Targeted (1)  1 citation
    • Endonuclease-mediated (4) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC8300

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA-binding transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific ISO
    Inferred from Sequence Orthology
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables SMAD binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables SMAD binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables chromatin binding IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    enables histone deacetylase inhibitor activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein domain specific binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein kinase binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables transcription corepressor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables ubiquitin protein ligase binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables zinc ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within anterior/posterior axis specification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within bone morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within camera-type eye development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within camera-type eye morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic limb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within face morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of fibroblast proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within lens morphogenesis in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within myelination in peripheral nervous system IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within myotube differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within myotube differentiation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in myotube differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    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 BMP signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in negative regulation of BMP signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of SMAD protein signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of Schwann cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of activin receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of fibroblast proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of osteoblast differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    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 IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    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 IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of transforming growth factor beta receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within neural tube closure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within nose morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within olfactory bulb development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within retina development in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within roof of mouth development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within skeletal muscle fiber development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within somatic stem cell population maintenance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in PML body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm 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
     
    part_of transcription regulator complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of transcription repressor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    ski oncogene
    Names
    C-ski
    Sloan-Kettering viral oncogene homolog
    proto-oncogene c-Ski

    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_001357191.2NP_001344120.1  ski oncogene isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL670413
      UniProtKB/Swiss-Prot
      Q60698, Q8VIL5
      Conserved Domains (3) summary
      smart01046
      Location:217312
      c-SKI_SMAD_bind; c-SKI Smad4 binding domain
      pfam02437
      Location:92190
      Ski_Sno; SKI/SNO/DAC family
      cl25732
      Location:496668
      SMC_N; RecF/RecN/SMC N terminal domain
    2. NM_011385.3NP_035515.2  ski oncogene isoform 1

      See identical proteins and their annotated locations for NP_035515.2

      Status: VALIDATED

      Source sequence(s)
      AL670413
      Consensus CDS
      CCDS19024.1
      UniProtKB/Swiss-Prot
      Q60698, Q8VIL5
      UniProtKB/TrEMBL
      B1AUF1
      Related
      ENSMUSP00000030917.6, ENSMUST00000030917.6
      Conserved Domains (5) summary
      pfam02437
      Location:92190
      Ski_Sno; SKI/SNO/DAC family
      pfam07321
      Location:562698
      YscO; Type III secretion protein YscO
      pfam08782
      Location:219311
      c-SKI_SMAD_bind; c-SKI Smad4 binding domain
      pfam13863
      Location:595701
      DUF4200; Domain of unknown function (DUF4200)
      cl12013
      Location:542604
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    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
      155238532..155307536 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)