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FLASH GENE
Symbol SKI contributors: mct/shn - updated : 02/02/2013
HGNC name v-ski sarcoma viral oncogene homolog (avian)
HGNC id 10896
Corresponding disease
DEL1P36 chromosome 1p subtelomeric deletion syndrome
SGS2 Shprintzen-Goldberg syndrome 2 of marfanoid habitus craniosynostosis
Location 1p36.33      Physical location : 2.160.133 - 2.241.651
Synonym name
  • v-ski avian sarcoma viral oncogene homolog
  • proto-oncogene c-Ski
  • ski oncogene
  • ski oncoprotein
  • Synonym symbol(s) SK, SKV, C-ski
    DNA
    TYPE functioning gene
    STRUCTURE 81.52 kb     7 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map pter - D1S243 - SKI - D1S468 - D1S2845 - cen
    Physical map
    AKIP 1p36.33 aurora-A kinase interacting protein LOC388775 1 similar to testis-specific protein NYD-TSP1 MRPL20 1p36.3-36.2 mitochondrial ribosomal protein L20 LOC391207 1 LOC391207 LOC388582 1 LOC388582 WARP 1p36.33 von Willebrand factor A domain-related protein FLJ37183 1p36.33 FLJ37183 protein TOB3 1p36.33 FLJ37183 protein FLJ10709 1p36.33 hypothetical protein FLJ10709 TLR5 1q33.3 toll-like receptor 5 LOC339453 1p36.33 hypothetical LOC339453 HSPC182 1p36.33 HSPC182 protein MMP23A 1p36.3 matrix metalloproteinase 23A SLC35E2 1p36.33 solute carrier family 35, member E2 FLJ13052 1p36.33-p36.21 NAD kinase GNB1 1p36.2 guanine nucleotide binding protein (G protein), beta polypeptide 1 LOC388583 1 similar to hypothetical protein LOC339457 PRKCZ 1p36.33-p36.2 protein kinase C, zeta FLJ31031 1p36.32 hypothetical protein FLJ31031 FLJ14100 1p36.32 hypothetical protein FLJ14100 SKI 1p36.3 v-ski sarcoma viral oncogene homolog (avian) LOC388584 1 LOC388584 FLJ13941 1p36.32 hypothetical protein FLJ13941 RER1 1pter-q24 RER1 homolog (S. cerevisiae) PEX10 1p36.33 peroxisome biogenesis factor 10 KIAA0450 1p36.32 peroxisome biogenesis factor 10 PANK4 1p36.32 pantothenate kinase 4 LOC388585 1 similar to hairy and enhancer of split 5 LOC388586 1 LOC388586 TNFRSF14 1p36.3-p36.22 tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator) MGC26818 1p36.32 hypothetical protein MGC26818 MMEL2 1p36 membrane metallo-endopeptidase-like 2 LOC390988 1 similar to RIKEN cDNA B230396O12 LOC390989 1 LOC390989 ARPM2  actin-related protein M2 DKFZp761G0122 1p36.32 hypothetical protein DKFZp761G0122 LOC148872 1p36.32 LOC148872 protein PRDM16 1p36.23-p33 PR domain containing 16
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 5707 - 728 - 2009 19341714
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Skin/Tegumentskin   highly
    Urinarybladder   highly
     kidney   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text gastrula, autonomous neural axis formation
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal region (most likely from AA 261 to 491) appeared to be responsible for its ability to bind to SIAH2 and stabilize HDAC3 and RARA
  • conserved CLPQ motif
  • R-SMAD binding domain
  • C-terminal SKI (491728) protein could not bind to SIAH2 and had no effect on the self-degradation of SIAH2, but this region including the coiled-coil domain appears to be required for SKI localization to the centrosomes and for SKI interaction with Aurora A
  • secondary structure
  • C-terminal region, with a alpha-helix coiled-coil domain (AA536710) that has been shown to be important for either homo-dimerization or dimerization
  • HOMOLOGY
    interspecies homolog to avian sarcoma viral (v-ski) oncogene
    ortholog to Ski, Mus musculus
    ortholog to Ski, Rattus norvegicus
    Homologene
    FAMILY
  • SKI family
  • CATEGORY protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome,centromere
    text
  • localized at the centrosomes and mitotic spindle during mitosis
  • basic FUNCTION
  • involved in terminal differentiation of skeletal muscle cells
  • may play a role in terminal differentiation of skeletal muscle cells but not in the determination of cells to the myogenic lineage
  • role in the morphogenesis of craniofacial structures and the central nervous system
  • participate in dorsal-ventral specification of both neuroectoderm and mesoderm
  • inhibits both TGF-beta-induced transcriptional activation and repression
  • a crucial signal in Schwann cell development and myelination
  • act as a transcriptional corepressor by multiple direct and indirect interactions with several distinct repression complexes
  • having a repressive effect on RA signaling pathway which might also apply to the other signaling pathways inhibited by the SKI protein
  • acts as a transcriptional co-repressor by multiple direct and indirect interactions with several distinct repression complexes
  • inhibits SIAH2-mediated proteasomal degradation of HDAC3
  • increases the levels of HDAC3 (and/or RARA indirectly) by interacting with SIAH2 and inhibiting SIAH2 ubiquitin ligase activity
  • negative regulator of the transforming growth factor-beta and other signalling pathways
  • in the maintenance of the neural stem cell pool and the specification of callosal neurons
  • required for transcriptional repression of Ctip2 in callosal neurons
  • a central role for Ski-Satb2 interactions in regulating transcriptional mechanisms of callosal neuron specification
  • may predominantly be required in the very proximal aorta at early stages of development for the proper regulation of TGFB signaling within the arterial media
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    TGF-beta signaling pathway
    a component
    INTERACTION
    DNA
  • TGGC/ANNNNNT/GCCAA of the nuclear factor I (NFI) and TCCCNNGGGA of the binding site of Olf-1/EBF
  • RNA
    small molecule
    protein
  • Ski Interacting Protein, SKIP
  • SnoN
  • retinoblastoma protein, Rb
  • promyelocytic leukemia, PML
  • MeCP2
  • Smad2/3
  • c-Jun
  • Smad3
  • Gli3
  • homeodomain-interacting protein kinase 2, HIPK2
  • Smad1, Smad2, Smad3, Smad4 and Smad5
  • DNA-binding domain of c-Myb
  • GATA1
  • PU.1
  • Arkadia
  • Six1 and Eya3
  • histone deacetylase 3, HDAC3 and protein arginine methyltransferase 5, PRMT5
  • PRDM16 (MID:19049980
  • RARalpha
  • SMAD4
  • retinoic acid receptor ALPHA, RARA
  • SPI1
  • SIAH2
  • TGF-beta type I receptor
  • p53
  • cell & other
    REGULATION
    activated by AURKA that is able to phosphorylate SKI
    Phosphorylated by Akt/PKB kinase
    Other regulated during the cell cycle by ubiquitylation and subsequent proteasomal degradation
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL1P36 , SGS2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in facial clefting (and/or neural tube defect)
    Susceptibility to orofacial defect
    Variant & Polymorphism SNP (257C>G)associated with a decreased risk for orofacial defects
    Candidate gene for facial clefting in 1p36 deletion
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • defects in neurulation, craniofacial, patterning, and skeletal muscle development in ski -/- mice
  • ski-deficient heterozygous mice display susceptibility to tumorigenesis
  • Ski-deficient callosal neurons lose their identity and ectopically express the transcription factor Ctip2
  • Ski-/- mice display a lethal phenotype with associated midline facial cleft, a depressed nasal bridge, eye anomalies, skeletal muscle defects, and digital anomalies