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

    Gene ID: 6497, updated on 8-Jul-2021

    Summary

    Official Symbol
    SKIprovided by HGNC
    Official Full Name
    SKI proto-oncogeneprovided by HGNC
    Primary source
    HGNC:HGNC:10896
    See related
    Ensembl:ENSG00000157933 MIM:164780
    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]
    Expression
    Ubiquitous expression in lung (RPKM 8.9), fat (RPKM 8.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SKI in Genome Data Viewer
    Location:
    1p36.33-p36.32
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (2228319..2310213)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (2159758..2241652)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268219 Neighboring gene FA core complex associated protein 20 Neighboring gene uncharacterized LOC105378593 Neighboring gene Sharpr-MPRA regulatory region 12294 Neighboring gene MORN repeat containing 1 Neighboring gene small nuclear ribonucleoprotein polypeptide N pseudogene Neighboring gene Sharpr-MPRA regulatory region 13804 Neighboring gene retention in endoplasmic reticulum sorting receptor 1

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    GeneReviews: Not available
    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

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

    General protein information

    Preferred Names
    ski oncogene
    Names
    proto-oncogene c-Ski
    ski oncoprotein
    v-ski avian sarcoma viral oncogene homolog

    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.

    Genomic

    1. NG_013084.1 RefSeqGene

      Range
      4625..86519
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003036.4NP_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, ENST00000378536.5
      Conserved Domains (4) summary
      smart01046
      Location:217312
      c-SKI_SMAD_bind; c-SKI Smad4 binding domain
      COG1196
      Location:538709
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd21083
      Location:91192
      DHD_Ski; Dachshund-homology domain found in Ski and similar proteins
      NF033913
      Location:383481
      fibronec_FbpA; LPXTG-anchored fibronectin-binding protein FbpA

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      2228319..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 (4) summary
      smart01046
      Location:217312
      c-SKI_SMAD_bind; c-SKI Smad4 binding domain
      COG1196
      Location:540711
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd21083
      Location:91192
      DHD_Ski; Dachshund-homology domain found in Ski and similar proteins
      NF033913
      Location:383481
      fibronec_FbpA; LPXTG-anchored fibronectin-binding protein FbpA
    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

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