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Aliases for SKI Gene

Aliases for SKI Gene

  • SKI Proto-Oncogene 2 3
  • V-Ski Avian Sarcoma Viral Oncogene Homolog 2 3
  • Proto-Oncogene C-Ski 3 4
  • SGS 3 6
  • Ski Oncoprotein 3
  • Ski Oncogene 3
  • SKV 3

External Ids for SKI Gene

Previous GeneCards Identifiers for SKI Gene

  • GC01P001715
  • GC01P002173
  • GC01P9M0086
  • GC01P001435

Summaries for SKI Gene

Entrez Gene Summary for SKI Gene

  • 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]

GeneCards Summary for SKI Gene

SKI (SKI Proto-Oncogene) is a Protein Coding gene. Diseases associated with SKI include shprintzen-goldberg syndrome and goldberg-shprintzen megacolon syndrome. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include chromatin binding and protein kinase binding. An important paralog of this gene is SKOR2.

UniProtKB/Swiss-Prot for SKI Gene

  • May play a role in terminal differentiation of skeletal muscle cells but not in the determination of cells to the myogenic lineage. Functions as a repressor of TGF-beta signaling.

Gene Wiki entry for SKI Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SKI Gene

Genomics for SKI Gene

Regulatory Elements for SKI Gene

Genomic Location for SKI Gene

Start:
2,228,695 bp from pter
End:
2,310,213 bp from pter
Size:
81,519 bases
Orientation:
Plus strand

Genomic View for SKI Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SKI Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SKI Gene

Proteins for SKI Gene

  • Protein details for SKI Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P12755-SKI_HUMAN
    Recommended name:
    Ski oncogene
    Protein Accession:
    P12755
    Secondary Accessions:
    • Q5SYT7

    Protein attributes for SKI Gene

    Size:
    728 amino acids
    Molecular mass:
    80005 Da
    Quaternary structure:
    • Interacts with SMAD2, SMAD3 and SMAD4. Interacts with HIPK2. Part of a complex with HIPK2 and SMAD1/2/3. Interacts with PRDM16 and SMAD3; the interaction with PRDM16 promotes the recruitment SMAD3-HDAC1 complex on the promoter of TGF-beta target genes.

    Three dimensional structures from OCA and Proteopedia for SKI Gene

neXtProt entry for SKI Gene

Proteomics data for SKI Gene at MOPED

Post-translational modifications for SKI Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SKI Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SKI Gene

Domains for SKI Gene

Gene Families for SKI Gene

HGNC:
  • SKOR :SKI transcriptional corepressors

Suggested Antigen Peptide Sequences for SKI Gene

Graphical View of Domain Structure for InterPro Entry

P12755

UniProtKB/Swiss-Prot:

SKI_HUMAN :
  • P12755
Family:
  • Belongs to the SKI family.
genes like me logo Genes that share domains with SKI: view

Function for SKI Gene

Molecular function for SKI Gene

GENATLAS Biochemistry: avian sarcoma viral (v-ski) oncogene homolog
UniProtKB/Swiss-Prot Function: May play a role in terminal differentiation of skeletal muscle cells but not in the determination of cells to the myogenic lineage. Functions as a repressor of TGF-beta signaling.

Gene Ontology (GO) - Molecular Function for SKI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IEA --
GO:0003714 transcription corepressor activity IMP 12435627
GO:0005515 protein binding IPI 10049357
GO:0008270 zinc ion binding IDA 12419246
GO:0019901 protein kinase binding IPI 12874272
genes like me logo Genes that share ontologies with SKI: view
genes like me logo Genes that share phenotypes with SKI: view

Animal Models for SKI Gene

MGI Knock Outs for SKI:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SKI Gene

Localization for SKI Gene

Subcellular locations from UniProtKB/Swiss-Prot for SKI Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SKI Gene COMPARTMENTS Subcellular localization image for SKI gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for SKI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 17054724
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex ISS --
GO:0005737 cytoplasm ISS --
GO:0005813 centrosome IDA 21600873
genes like me logo Genes that share ontologies with SKI: view

Pathways for SKI Gene

genes like me logo Genes that share pathways with SKI: view

Gene Ontology (GO) - Biological Process for SKI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter TAS --
GO:0001843 neural tube closure ISS --
GO:0002089 lens morphogenesis in camera-type eye ISS --
GO:0006351 transcription, DNA-templated TAS --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
genes like me logo Genes that share ontologies with SKI: view

Compounds for SKI Gene

(3) Novoseek inferred chemical compound relationships for SKI Gene

Compound -log(P) Hits PubMed IDs
tgf beta1 37 1
leucine 23.6 2
vitamin d 0 1
genes like me logo Genes that share compounds with SKI: view

Transcripts for SKI Gene

mRNA/cDNA for SKI Gene

Unigene Clusters for SKI Gene

V-ski sarcoma viral oncogene homolog (avian):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SKI Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b
SP1: -
SP2:
SP3:

Relevant External Links for SKI Gene

GeneLoc Exon Structure for
SKI
ECgene alternative splicing isoforms for
SKI

Expression for SKI Gene

mRNA expression in normal human tissues for SKI Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SKI Gene

SOURCE GeneReport for Unigene cluster for SKI Gene Hs.656507

genes like me logo Genes that share expressions with SKI: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SKI Gene

Orthologs for SKI Gene

This gene was present in the common ancestor of animals.

Orthologs for SKI Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SKI 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SKI 35
  • 89.58 (n)
  • 91.15 (a)
SKI 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SKI 35
  • 89.81 (n)
  • 93.33 (a)
SKI 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ski 35
  • 88.81 (n)
  • 93.4 (a)
Ski 16
Ski 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SKI 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SKI 36
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ski 35
  • 88.76 (n)
  • 94.13 (a)
chicken
(Gallus gallus)
Aves SKI 35
  • 75.38 (n)
  • 82.67 (a)
SKI 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SKI 36
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.102 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ski 35
  • 74.06 (n)
  • 79.42 (a)
Str.1843 35
zebrafish
(Danio rerio)
Actinopterygii skia 35
  • 71.48 (n)
  • 71.86 (a)
skia 36
  • 69 (a)
OneToMany
skib 36
  • 61 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Snoo 36
  • 18 (a)
OneToMany
CG7233 37
  • 48 (a)
Species with no ortholog for SKI:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SKI Gene

ENSEMBL:
Gene Tree for SKI (if available)
TreeFam:
Gene Tree for SKI (if available)

Paralogs for SKI Gene

Paralogs for SKI Gene

Selected SIMAP similar genes for SKI Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SKI: view

Variants for SKI Gene

Sequence variations from dbSNP and Humsavar for SKI Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs154970 -- 2,257,387(-) CGCAC(A/G)TCTGC intron-variant
rs183794 -- 2,235,232(-) acccc(A/G)tctct intron-variant
rs185501 -- 2,235,305(-) gcact(C/T)tggga intron-variant
rs260505 -- 2,262,576(+) GTGGG(A/C)GTGGA intron-variant
rs260506 -- 2,261,978(+) AAGGC(A/G)TGGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SKI Gene

Variant ID Type Subtype PubMed ID
dgv56n71 CNV Loss 21882294
nsv871399 CNV Loss 21882294
nsv834557 CNV Loss 17160897
nsv870615 CNV Gain 21882294
dgv59n71 CNV Loss 21882294
nsv461727 CNV Loss 19166990
dgv60n71 CNV Loss 21882294
dgv61n71 CNV Loss 21882294
dgv62n71 CNV Loss 21882294
dgv63n71 CNV Loss 21882294
nsv470682 CNV Loss 18288195
nsv463949 CNV Loss 19166990
nsv834668 CNV Loss 17160897
esv2648351 CNV Loss 19546169
esv2673961 CNV Deletion 23128226
nsv465060 CNV Loss 19166990
dgv64n71 CNV Loss 21882294
nsv870822 CNV Gain 21882294
dgv65n71 CNV Loss 21882294
esv2718139 CNV Deletion 23290073
dgv66n71 CNV Loss 21882294
nsv528621 CNV Loss 19592680
nsv870904 CNV Gain 21882294
esv22780 CNV Gain+Loss 19812545
esv2718250 CNV Deletion 23290073
esv1252402 CNV Deletion 17803354
esv1536883 CNV Deletion 17803354
esv1025209 CNV Deletion 17803354
dgv67n71 CNV Loss 21882294
esv1682069 CNV Deletion 17803354
esv1164473 CNV Deletion 17803354
nsv870515 CNV Loss 21882294
nsv823031 CNV Gain 20364138
dgv68n71 CNV Loss 21882294
nsv871848 CNV Loss 21882294
nsv4742 CNV Insertion 18451855
nsv871930 CNV Loss 21882294
dgv4n67 CNV Gain 20364138
nsv823364 CNV Gain 20364138

Relevant External Links for SKI Gene

HapMap Linkage Disequilibrium report
SKI
Human Gene Mutation Database (HGMD)
SKI

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SKI Gene

Disorders for SKI Gene

(1) OMIM Diseases for SKI Gene (164780)

UniProtKB/Swiss-Prot

SKI_HUMAN
  • Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]: A very rare syndrome characterized by a marfanoid habitus, craniosynostosis, characteristic dysmorphic facial features, skeletal and cardiovascular abnormalities, mental retardation, developmental delay and learning disabilities. {ECO:0000269 PubMed:23023332, ECO:0000269 PubMed:23103230, ECO:0000269 PubMed:24357594, ECO:0000269 PubMed:24736733}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for SKI Gene

(8) Novoseek inferred disease relationships for SKI Gene

Disease -log(P) Hits PubMed IDs
leukemogenesis 43.4 1
metastatic melanoma 34.5 3
tumors 25.8 36
melanoma 25.3 26
pancreatic cancer 17.6 6

Relevant External Links for SKI

Genetic Association Database (GAD)
SKI
Human Genome Epidemiology (HuGE) Navigator
SKI
Tumor Gene Database (TGDB):
SKI
genes like me logo Genes that share disorders with SKI: view

Publications for SKI Gene

  1. SKI and MEL1 cooperate to inhibit transforming growth factor-beta signal in gastric cancer cells. (PMID: 19049980) Takahata M. … Imamura T. (J. Biol. Chem. 2009) 3 4 23
  2. Isolation of human cDNA clones of ski and the ski-related gene, sno. (PMID: 2762147) Nomura N. … Ishizaki R. (Nucleic Acids Res. 1989) 2 3 4
  3. TGF-beta repressors SnoN and Ski are implicated in human colorectal carcinogenesis. (PMID: 19096149) Bravou V. … Kalofonos H. (Cell. Oncol. 2009) 3 23
  4. Dual role of Ski in pancreatic cancer cells: tumor-promoting versus metastasis-suppressive function. (PMID: 19546161) Wang P. … Liu L.M. (Carcinogenesis 2009) 3 23
  5. c-Ski overexpression promotes tumor growth and angiogenesis through inhibition of transforming growth factor-beta signaling in diffuse-type gastric carcinoma. (PMID: 19594546) Kiyono K. … Miyazono K. (Cancer Sci. 2009) 3 23

Products for SKI Gene

  • Addgene plasmids for SKI

Sources for SKI Gene

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