Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SKIL Gene

Aliases for SKIL Gene

  • SKI-Like Proto-Oncogene 2 3 5
  • SKI-Like Oncogene 2 3
  • Sno 3 4
  • Ski-Related Oncogene SnoN 3
  • Ski-Related Oncogene 4
  • Ski-Related Protein 4
  • SnoA 3
  • SnoI 3
  • SnoN 3

External Ids for SKIL Gene

Previous GeneCards Identifiers for SKIL Gene

  • GC03P167219
  • GC03P171126
  • GC03P171479
  • GC03P171398
  • GC03P171396
  • GC03P171558
  • GC03P170075
  • GC03P167445

Summaries for SKIL Gene

Entrez Gene Summary for SKIL Gene

  • The protein encoded by this gene is a component of the SMAD pathway, which regulates cell growth and differentiation through transforming growth factor-beta (TGFB). In the absence of ligand, the encoded protein binds to the promoter region of TGFB-responsive genes and recruits a nuclear repressor complex. TGFB signaling causes SMAD3 to enter the nucleus and degrade this protein, allowing these genes to be activated. Four transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

GeneCards Summary for SKIL Gene

SKIL (SKI-Like Proto-Oncogene) is a Protein Coding gene. Diseases associated with SKIL include shoulder impingement syndrome. Among its related pathways are Gene Expression and Signaling by GPCR. GO annotations related to this gene include chromatin binding and protein domain specific binding. An important paralog of this gene is SKI.

UniProtKB/Swiss-Prot for SKIL Gene

  • May have regulatory role in cell division or differentiation in response to extracellular signals.

Gene Wiki entry for SKIL Gene

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

Genomics for SKIL Gene

Regulatory Elements for SKIL Gene

Promoters for SKIL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SKIL on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the SKIL gene promoter:

Genomic Location for SKIL Gene

Chromosome:
3
Start:
170,357,678 bp from pter
End:
170,396,849 bp from pter
Size:
39,172 bases
Orientation:
Plus strand

Genomic View for SKIL Gene

Genes around SKIL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SKIL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SKIL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SKIL Gene

Proteins for SKIL Gene

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

    Protein Symbol:
    P12757-SKIL_HUMAN
    Recommended name:
    Ski-like protein
    Protein Accession:
    P12757
    Secondary Accessions:
    • A6NGT1
    • B4DT50
    • O00464
    • P12756
    • Q07501

    Protein attributes for SKIL Gene

    Size:
    684 amino acids
    Molecular mass:
    76976 Da
    Quaternary structure:
    • Interacts with CPNE4 (via VWFA domain) (By similarity). Interacts with SMAD2, SMAD3 and RNF111 (PubMed:17591695). Isoform 1 interacts with WWP1 (PubMed:15221015).

    Three dimensional structures from OCA and Proteopedia for SKIL Gene

    Alternative splice isoforms for SKIL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SKIL Gene

Proteomics data for SKIL Gene at MOPED

Post-translational modifications for SKIL Gene

  • Ubiquitination at Lys 249 and Lys 423
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SKIL (SKIL)

No data available for DME Specific Peptides for SKIL Gene

Domains & Families for SKIL Gene

Gene Families for SKIL Gene

Suggested Antigen Peptide Sequences for SKIL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P12757

UniProtKB/Swiss-Prot:

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

Function for SKIL Gene

Molecular function for SKIL Gene

UniProtKB/Swiss-Prot Function:
May have regulatory role in cell division or differentiation in response to extracellular signals.
genes like me logo Genes that share phenotypes with SKIL: view

Animal Models for SKIL Gene

MGI Knock Outs for SKIL:

Animal Model Products

miRNA for SKIL Gene

miRTarBase miRNAs that target SKIL

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SKIL Gene

Localization for SKIL Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SKIL Gene COMPARTMENTS Subcellular localization image for SKIL gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for SKIL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 14712482
GO:0005737 cytoplasm IDA 16109768
GO:0016605 PML body IDA 19383336
genes like me logo Genes that share ontologies with SKIL: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for SKIL Gene

Pathways & Interactions for SKIL Gene

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

SIGNOR curated interactions for SKIL Gene

Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for SKIL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter TAS --
GO:0001825 blastocyst formation IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0007050 cell cycle arrest IEA,ISS --
GO:0007179 transforming growth factor beta receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with SKIL: view

Drugs & Compounds for SKIL Gene

(1) Drugs for SKIL Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for SKIL Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SKIL: view

Transcripts for SKIL Gene

Unigene Clusters for SKIL Gene

SKI-like oncogene:
Representative Sequences:

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

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b
SP1: -
SP2: -
SP3:
SP4: - -

Relevant External Links for SKIL Gene

GeneLoc Exon Structure for
SKIL
ECgene alternative splicing isoforms for
SKIL

Expression for SKIL Gene

mRNA expression in normal human tissues for SKIL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SKIL Gene

This gene is overexpressed in Cervix (68.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SKIL Gene



SOURCE GeneReport for Unigene cluster for SKIL Gene Hs.536655

mRNA Expression by UniProt/SwissProt for SKIL Gene

P12757-SKIL_HUMAN
Tissue specificity: Isoform SNON and isoform SNOA are widely expressed. Highest expression is found in skeletal muscle, followed by placenta and lung. Lowest expression in heart, brain and pancreas. Isoform SNOI expression is restricted to skeletal muscle.
genes like me logo Genes that share expression patterns with SKIL: view

Protein tissue co-expression partners for SKIL Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for SKIL Gene

Orthologs for SKIL Gene

This gene was present in the common ancestor of animals.

Orthologs for SKIL Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SKIL 35
  • 91.26 (n)
  • 91.07 (a)
SKIL 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SKIL 35
  • 90.63 (n)
  • 91.65 (a)
SKIL 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Skil 35
  • 85.48 (n)
  • 89.19 (a)
Skil 16
Skil 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SKIL 35
  • 99.51 (n)
  • 99.56 (a)
SKIL 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Skil 35
  • 85.62 (n)
  • 89.81 (a)
oppossum
(Monodelphis domestica)
Mammalia SKIL 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SKIL 36
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves SKIL 35
  • 75.16 (n)
  • 75.85 (a)
SKIL 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SKIL 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia skil 35
  • 70.51 (n)
  • 72.48 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100007653 35
  • 54.7 (n)
  • 52.82 (a)
skila 36
  • 49 (a)
OneToMany
skilb 36
  • 44 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7233 37
  • 46 (a)
Snoo 36
  • 16 (a)
OneToMany
Species with no ortholog for SKIL:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 SKIL Gene

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

Paralogs for SKIL Gene

Paralogs for SKIL Gene

(1) SIMAP similar genes for SKIL Gene using alignment to 4 proteins:

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

Variants for SKIL Gene

Sequence variations from dbSNP and Humsavar for SKIL Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs3772173 - 170,360,444(+) TCATG(C/T)AAATG reference, missense
rs15709 -- 170,392,741(-) TTCCA(A/T)CACAT utr-variant-3-prime
rs1045210 -- 170,396,290(+) TAGTA(A/C)ACATG utr-variant-3-prime
rs1047308 -- 170,359,679(-) GGGGG(A/G)TTGGG intron-variant, utr-variant-5-prime
rs1511174 -- 170,358,045(+) GGAGC(C/T)GCGGG intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv7356 OTHER Inversion 18451855
nsv519286 CNV Loss 19592680

Variation tolerance for SKIL Gene

Residual Variation Intolerance Score: 39.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.20; 39.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SKIL Gene

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

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

Disorders for SKIL Gene

MalaCards: The human disease database

(1) MalaCards diseases for SKIL Gene - From: DISEASES

Disorder Aliases PubMed IDs
shoulder impingement syndrome
  • impingement syndrome of shoulder region
- elite association - COSMIC cancer census association via MalaCards
Search SKIL in MalaCards View complete list of genes associated with diseases

Relevant External Links for SKIL

Genetic Association Database (GAD)
SKIL
Human Genome Epidemiology (HuGE) Navigator
SKIL
Tumor Gene Database (TGDB):
SKIL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SKIL
genes like me logo Genes that share disorders with SKIL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SKIL Gene

Publications for SKIL Gene

  1. 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 67
  2. Bone morphogenetic protein-7 inhibits proximal tubular epithelial cell Smad3 signaling via increased SnoN expression. (PMID: 20093492) Luo D.D. … Fraser D. (Am. J. Pathol. 2010) 3 23
  3. Plasmin plays a key role in the regulation of profibrogenic molecules in hepatic stellate cells. (PMID: 19889106) MartA-nez-Rizo A. … ArmendA!riz-Borunda J. (Liver Int. 2010) 3 23
  4. Clinical significance of the expression of c-Ski and SnoN, possible mediators in TGF-beta resistance, in primary cutaneous melanoma. (PMID: 18782659) Boone B. … Brochez L. (J. Dermatol. Sci. 2009) 3 23
  5. TGF-beta repressors SnoN and Ski are implicated in human colorectal carcinogenesis. (PMID: 19096149) Bravou V. … Kalofonos H. (Cell. Oncol. 2009) 3 23

Products for SKIL Gene

Sources for SKIL Gene

Back to Top

Content