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... See more...

Aliases for SKIL Gene

Aliases for SKIL Gene

  • SKI Like Proto-Oncogene 2 3 5
  • SKI-Like Oncogene 2 3
  • Ski-Like Protein 3 4
  • 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 Obstructive Nephropathy and Cornea Cancer. Among its related pathways are TGF-Beta Pathway and Signaling pathways regulating pluripotency of stem cells. Gene Ontology (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 Summary for SKIL Gene

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

Gene Wiki entry for SKIL Gene

Additional gene information for SKIL Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SKIL Gene

Genomics for SKIL Gene

GeneHancer (GH) Regulatory Elements for SKIL Gene

Promoters and enhancers for SKIL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J170352 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 518.9 +1.1 1137 11.6 HNRNPK ZNF217 EP300 CTCF NRF1 TCF12 POLR2G USF1 SP1 PHF8 SKIL lnc-SKIL-3 ACTRT3 SLC7A14 ENSG00000270096 ENSG00000239628 GPR160 ENSG00000242578 lnc-SLC7A14-4 piR-52079-150
GH03J170329 Enhancer 1.3 Ensembl ENCODE dbSUPER 13 -26.9 -26926 2.3 EP300 POLR2G NCOR1 FOS KDM6A TCF7 SMARCC2 SKI ZKSCAN8 FOXA2 SKIL ENSG00000239628 piR-47628-118
GH03J170309 Enhancer 1.2 Ensembl ENCODE dbSUPER 13.1 -47.3 -47281 1.2 ZNF217 CTCF REST RFX1 CUX1 RAD21 TRIM22 SMC3 DEK ZNF592 SKIL ENSG00000242578 GPR160 RF00017-4164 piR-47628-118
GH03J170307 Enhancer 0.9 Ensembl ENCODE 13.1 -49.6 -49577 1 ZNF217 TCF12 TRIM28 CUX1 CHD1 GATAD2B CTBP1 FOXA2 FOSL2 CEBPB SKIL ENSG00000242578 CLDN11 RF00017-4164 piR-47628-118
GH03J170334 Enhancer 0.8 Ensembl ENCODE 13 -22.5 -22471 1.6 CTBP1 FOXA2 ZNF592 SRF ESR1 NEUROD1 ELF1 DPF2 ZNF217 NFIB SKIL ENSG00000239628 piR-47628-118
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SKIL on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SKIL

Top Transcription factor binding sites by QIAGEN in the SKIL gene promoter:
  • Sp1

Genomic Locations for SKIL Gene

Genomic Locations for SKIL Gene
chr3:170,357,678-170,396,849
(GRCh38/hg38)
Size:
39,172 bases
Orientation:
Plus strand
chr3:170,075,466-170,114,623
(GRCh37/hg19)
Size:
39,158 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

Post-translational modifications for SKIL Gene

  • Ubiquitinated by RNF111 and RNF165, promoting proteasomal degradation, leading to enhance the BMP-Smad signaling.
  • Ubiquitination at Lys249 and Lys423
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for SKIL
  • Boster Bio Antibodies for SKIL

No data available for DME Specific Peptides for SKIL Gene

Domains & Families for SKIL Gene

Gene Families for SKIL Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SKIL Gene

Blocks:
  • SAND domain
  • SAND-like
  • Transforming protein Ski
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SKIL Gene

GenScript: Design optimal peptide antigens:
  • Ski-related protein (SKIL_HUMAN)

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.

Phenotypes From GWAS Catalog for SKIL Gene

Gene Ontology (GO) - Molecular Function for SKIL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 10531062
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 10531062
GO:0003682 chromatin binding IEA --
GO:0003714 transcription corepressor activity IBA 21873635
genes like me logo Genes that share ontologies with SKIL: view
genes like me logo Genes that share phenotypes with SKIL: view

Animal Models for SKIL Gene

MGI Knock Outs for SKIL:

Animal Model Products

CRISPR Products

miRNA for SKIL Gene

miRTarBase miRNAs that target SKIL

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SKIL

Clone Products

  • Addgene plasmids for SKIL

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

Localization for SKIL Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SKIL gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SKIL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005634 nucleus IBA,IEA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IBA 21873635
GO:0032991 protein-containing complex IDA 23610558
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

Pathways by source for SKIL Gene

1 GeneGo (Thomson Reuters) pathway for SKIL Gene
  • Development_TGF-beta receptor signaling
3 Qiagen pathways for SKIL Gene
  • SMAD Signaling Network
  • TGF-Beta Pathway
  • Transcriptional Regulatory Network in Embryonic Stem Cell
1 Cell Signaling Technology pathway for SKIL Gene

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 by RNA polymerase II TAS --
GO:0001825 blastocyst formation IEA --
GO:0002260 lymphocyte homeostasis IEA --
GO:0007050 cell cycle arrest IEA --
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

mRNA/cDNA for SKIL Gene

4 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SKIL

Clone Products

  • Addgene plasmids for SKIL

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

Expression for SKIL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for SKIL Gene



Protein tissue co-expression partners for SKIL Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SKIL

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.

Evidence on tissue expression from TISSUES for SKIL Gene

  • Kidney(4.5)
  • Heart(4.3)
  • Muscle(2.2)
  • Lung(2.1)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with SKIL: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia SKIL 31 30
  • 99.51 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SKIL 31 30
  • 91.26 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SKIL 31 30
  • 90.63 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Skil 30
  • 85.62 (n)
mouse
(Mus musculus)
Mammalia Skil 17 31 30
  • 85.48 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SKIL 31
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SKIL 31
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves SKIL 31 30
  • 75.16 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SKIL 31
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia skil 30
  • 70.51 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100007653 30
  • 54.7 (n)
skila 31
  • 49 (a)
OneToMany
skilb 31
  • 44 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7233 32
  • 46 (a)
Snoo 31
  • 16 (a)
OneToMany
Species where no ortholog for SKIL was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SKIL: view image

Paralogs for SKIL Gene

Paralogs for SKIL Gene

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

  • SKIL_HUMAN
  • C9J8R9_HUMAN
  • H7C4V3_HUMAN
  • I6QMM9_HUMAN
genes like me logo Genes that share paralogs with SKIL: view

Variants for SKIL Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SKIL Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
725671 Benign: not provided 170,361,039(+) A/G SYNONYMOUS_VARIANT
777376 Benign: not provided 170,392,359(+) T/A MISSENSE_VARIANT
rs193920870 Uncertain Significance: Malignant tumor of prostate 170,361,273(+) A/T MISSENSE_VARIANT
rs3772173 - p.Ala38Val

Additional dbSNP identifiers (rs#s) for SKIL Gene

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

Variant ID Type Subtype PubMed ID
nsv1073694 CNV deletion 25765185
nsv1109562 CNV deletion 24896259
nsv1136372 CNV deletion 24896259
nsv519286 CNV loss 19592680
nsv7356 OTHER inversion 18451855

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)

Additional Variant Information for SKIL Gene

Human Gene Mutation Database (HGMD)
SKIL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SKIL

SNP Genotyping and Copy Number Assay Products

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

Disorders for SKIL Gene

MalaCards: The human disease database

(2) MalaCards diseases for SKIL Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
obstructive nephropathy
  • con
cornea cancer
  • corneal tumor
- elite association - COSMIC cancer census association via MalaCards
Search SKIL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SKIL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. Arkadia activates Smad3/Smad4-dependent transcription by triggering signal-induced SnoN degradation. (PMID: 17591695) Levy L … Hill CS (Molecular and cellular biology 2007) 3 4 23 54
  2. Negative regulation of transforming growth factor-beta (TGF-beta) signaling by WW domain-containing protein 1 (WWP1). (PMID: 15221015) Komuro A … Miyazawa K (Oncogene 2004) 3 4 23 54
  3. Proto-oncogene Sno expression, alternative isoforms and immediate early serum response. (PMID: 9207045) Pearson-White S … Crittenden R (Nucleic acids research 1997) 3 4 23 54
  4. SnoI, a novel alternatively spliced isoform of the ski protooncogene homolog, sno. (PMID: 8233802) Pearson-White S (Nucleic acids research 1993) 3 4 23 54
  5. Isolation of human cDNA clones of ski and the ski-related gene, sno. (PMID: 2762147) Nomura N … Ishizaki R (Nucleic acids research 1989) 2 3 4 54

Products for SKIL Gene

  • Signalway ELISA kits for SKIL
  • Signalway Proteins for SKIL

Sources for SKIL Gene