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    SKI SKI proto-oncogene [ Homo sapiens (human) ]

    Gene ID: 6497, updated on 9-Jul-2017
    Official Symbol
    SKIprovided by HGNC
    Official Full Name
    SKI proto-oncogeneprovided by HGNC
    Primary source
    HGNC:HGNC:10896
    See related
    Ensembl:ENSG00000157933 MIM:164780; Vega:OTTHUMG00000001407
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SGS; SKV
    Summary
    This gene encodes the nuclear protooncogene protein homolog of avian sarcoma viral (v-ski) oncogene. It functions as a repressor of TGF-beta signaling, and may play a role in neural tube development and muscle differentiation. [provided by RefSeq, Oct 2009]
    Orthologs
    Location:
    1p36.33-p36.32
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (2228695..2310213)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (2160134..2241652)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene protein kinase C zeta Neighboring gene PRKCZ antisense RNA 1 Neighboring gene uncharacterized LOC105378593 Neighboring gene uncharacterized LOC105378592 Neighboring gene Fanconi anemia core complex associated protein 20 Neighboring gene small nuclear ribonucleoprotein polypeptide N pseudogene Neighboring gene MORN repeat containing 1 Neighboring gene retention in endoplasmic reticulum sorting receptor 1 Neighboring gene peroxisomal biogenesis factor 10

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Shprintzen-Goldberg syndrome
    MedGen: C1321551 OMIM: 182212 GeneReviews: Shprintzen-Goldberg Syndrome
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2012-01-06)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated (2012-01-06)

    ClinGen Genome Curation Page

    NHGRI GWAS Catalog

    Description
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    NHGRI GWA Catalog
    • BMP receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
      BMP receptor signaling, organism-specific biosystem
      BMP receptor signaling
    • C-MYB transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      C-MYB transcription factor network, organism-specific biosystem
      C-MYB transcription factor network
    • Downregulation of SMAD2/3:SMAD4 transcriptional activity, organism-specific biosystem (from REACTOME)
      Downregulation of SMAD2/3:SMAD4 transcriptional activity, organism-specific biosystemTranscriptional activity of SMAD2/3:SMAD4 heterotrimer can be inhibited by formation of a complex with SKI or SKIL (SNO), where SKI or SKIL recruit NCOR and possibly other transcriptional repressors ...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • Regulation of nuclear SMAD2/3 signaling, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of nuclear SMAD2/3 signaling, organism-specific biosystem
      Regulation of nuclear SMAD2/3 signaling
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by BMP, organism-specific biosystem (from REACTOME)
      Signaling by BMP, organism-specific biosystemBone morphogenetic proteins (BMPs) have many biological activities in various tissues, including bone, cartilage, blood vessels, heart, kidney, neurons, liver and lung. They are members of the Transf...
    • Signaling by TGF-beta Receptor Complex, organism-specific biosystem (from REACTOME)
      Signaling by TGF-beta Receptor Complex, organism-specific biosystemThe TGF-beta/BMP pathway incorporates several signaling pathways that share most, but not all, components of a central signal transduction engine. The general signaling scheme is rather simple: upon ...
    • TGF-beta Receptor Signaling, organism-specific biosystem (from WikiPathways)
      TGF-beta Receptor Signaling, organism-specific biosystemThe Transforming growth factor beta (TGFβ) signaling pathway is involved in many cellular processes in both the adult organism and the developing embryo including cell growth, cell differentiat...
    • TGF-beta Signaling Pathway, organism-specific biosystem (from WikiPathways)
      TGF-beta Signaling Pathway, organism-specific biosystemThe signal transduction mechanisms underlying the pathophysiological activities of transforming growth factor-? (TGF-?) have been extensively studied since its discovery nearly 30 years ago. TGF-? li...
    • Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer, organism-specific biosystem (from REACTOME)
      Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer, organism-specific biosystemIn the nucleus, SMAD2/3:SMAD4 heterotrimer complex acts as a transcriptional regulator. The activity of SMAD2/3 complex is regulated both positively and negatively by association with other transcrip...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    SMAD binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    histone deacetylase inhibitor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    repressing transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription corepressor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription corepressor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    BMP signaling pathway TAS
    Traceable Author Statement
    more info
     
    SMAD protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    anterior/posterior axis specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    bone morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    camera-type eye development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    camera-type eye morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell motility NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cell proliferation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    embryonic limb morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    face morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    lens morphogenesis in camera-type eye ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    myelination in peripheral nervous system ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    myotube differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of BMP signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of Schwann cell proliferation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of activin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of fibroblast proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of histone deacetylation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
     
    negative regulation of transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transforming growth factor beta receptor signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neural tube closure ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neuron development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nose morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    olfactory bulb development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    palate development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of Wnt signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein homotrimerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    retina development in camera-type eye ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    skeletal muscle fiber development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    somatic stem cell population maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    transforming growth factor beta receptor signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    PML body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nuclear body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transcriptional repressor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    ski oncogene
    Names
    proto-oncogene c-Ski
    ski oncoprotein
    v-ski avian sarcoma viral oncogene homolog

    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.

    Genomic

    1. NG_013084.1 RefSeqGene

      Range
      5001..86519
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003036.3NP_003027.1  ski oncogene

      See identical proteins and their annotated locations for NP_003027.1

      Status: REVIEWED

      Source sequence(s)
      AL590822, X15218
      Consensus CDS
      CCDS39.1
      UniProtKB/Swiss-Prot
      P12755
      Related
      ENSP00000367797.4, OTTHUMP00000001507, ENST00000378536.4, OTTHUMT00000004070
      Conserved Domains (5) summary
      pfam02437
      Location:92190
      Ski_Sno; SKI/SNO/DAC family
      pfam07321
      Location:563699
      YscO; Type III secretion protein YscO
      pfam08782
      Location:219311
      c-SKI_SMAD_bind; c-SKI Smad4 binding domain
      pfam13863
      Location:596704
      DUF4200; Domain of unknown function (DUF4200)
      cl12013
      Location:543605
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      2228695..2310213
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005244775.3XP_005244832.1  ski oncogene isoform X1

      See identical proteins and their annotated locations for XP_005244832.1

      Conserved Domains (5) summary
      pfam02437
      Location:92190
      Ski_Sno; SKI/SNO/DAC family
      pfam07321
      Location:565701
      YscO; Type III secretion protein YscO
      pfam08782
      Location:219311
      c-SKI_SMAD_bind; c-SKI Smad4 binding domain
      pfam13863
      Location:598706
      DUF4200; Domain of unknown function (DUF4200)
      cl12013
      Location:545607
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    2. XM_005244776.4XP_005244833.1  ski oncogene isoform X3

      Conserved Domains (2) summary
      pfam13863
      Location:308416
      DUF4200; Domain of unknown function (DUF4200)
      cl12013
      Location:255317
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    3. XM_017002128.1XP_016857617.1  ski oncogene isoform X2

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      2147183..2227893
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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