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

Gene ID: 6498, updated on 13-Mar-2020

Summary

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Official Symbol
SKILprovided by HGNC
Official Full Name
SKI like proto-oncogeneprovided by HGNC
Primary source
HGNC:HGNC:10897
See related
Ensembl:ENSG00000136603 MIM:165340
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
SNO; SnoA; SnoI; SnoN
Summary
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]
Expression
Ubiquitous expression in gall bladder (RPKM 14.0), appendix (RPKM 11.3) and 25 other tissues See more
Orthologs
mouse all

Genomic context

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See SKIL in Genome Data Viewer
Location:
3q26.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (170357678..170396849)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (170075473..170114637)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene protein kinase C iota Neighboring gene Sharpr-MPRA regulatory region 5121 Neighboring gene microRNA 6828 Neighboring gene claudin 11 Neighboring gene SLC7A14 antisense RNA 1 Neighboring gene solute carrier family 7 member 14 Neighboring gene keratin 8 pseudogene 13

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. SnoN Stabilizes the SMAD3/SMAD4 Protein Complex. Walldén K, et al. Sci Rep, 2017 Apr 11. PMID 28397834, Free PMC Article
  2. The influence of SnoN gene silencing by siRNA on the cell proliferation and apoptosis of human pancreatic cancer cells. Liu C, et al. Diagn Pathol, 2015 Apr 18. PMID 25907906, Free PMC Article
  3. Recurrent SKIL-activating rearrangements in ETS-negative prostate cancer. Annala M, et al. Oncotarget, 2015 Mar 20. PMID 25749039, Free PMC Article
  4. Intraductal papillary mucinous neoplasm in a neonate with congenital hyperinsulinism and a de novo germline SKIL gene mutation. Jiao Y, et al. Pancreatology, 2015 Mar-Apr. PMID 25464936, Free PMC Article
  5. PMA induces SnoN proteolysis and CD61 expression through an autocrine mechanism. Li C, et al. Cell Signal, 2014 Jul. PMID 24637302, Free PMC Article

See all (95) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Our results show that SnoN, and SMAD heteromers can form a joint structural core for the binding of other transcription modulators.
    Title: SnoN Stabilizes the SMAD3/SMAD4 Protein Complex.
  2. It is a critical negative regulator of TGF-beta1/Smad signal pathway, involving in tubule epithelial-mesenchymal transition (EMT), extracellular matrix (ECM) accumulation, and tubulointerstitial fibrosis.
    Title: Down-regulation of miR-23a inhibits high glucose-induced EMT and renal fibrogenesis by up-regulation of SnoN.
  3. signal transducer and activator of transcription (Stat)3 represses Smad3 in synergy with the potent negative regulators of TGF-beta signaling, c-Ski and SnoN, whereby renders gefitinib-sensitive HCC827 cells resistant
    Title: Repression of Smad3 by Stat3 and c-Ski/SnoN induces gefitinib resistance in lung adenocarcinoma.
  4. SnoN interacts with multiple components of the Hippo pathway to inhibit the binding of Lats2 to TAZ and the subsequent phosphorylation of TAZ, leading to TAZ stabilization.
    Title: SnoN Antagonizes the Hippo Kinase Complex to Promote TAZ Signaling during Breast Carcinogenesis.
  5. suggest that SnoN suppresses TGF-betainduced epithelial-mesenchymal transition and invasion of bladder cancer cells in a TIF1gammadependent manner
    Title: SnoN suppresses TGF-β-induced epithelial-mesenchymal transition and invasion of bladder cancer in a TIF1γ-dependent manner.
  6. the findings of this study demonstrate that the downregulation of SnoN expression in hRPTECs under high-glucose conditions is mediated by the increased expression of Smurf2 through the TGF-b1/Smad signaling pathway.
    Title: The downregulation of SnoN expression in human renal proximal tubule epithelial cells under high-glucose conditions is mediated by an increase in Smurf2 expression through TGF-β1 signaling.
  7. RNAi-mediated downregulation of SnoN effectively inhibited proliferation and enhanced apoptosis of pancreatic cells.
    Title: The influence of SnoN gene silencing by siRNA on the cell proliferation and apoptosis of human pancreatic cancer cells.
  8. SKIL knockdown led to growth arrest in PC-3 and LNCaP cell line models of prostate cancer, and its overexpression led to increased invasiveness in RWPE-1 cells.
    Title: Recurrent SKIL-activating rearrangements in ETS-negative prostate cancer.
  9. Whole exome sequencing of the blood of the patient and both parents revealed a de novo germline SKIL mutation in the child that was not present in either parent
    Title: Intraductal papillary mucinous neoplasm in a neonate with congenital hyperinsulinism and a de novo germline SKIL gene mutation.
  10. Data indicate that tripartite motif containing 33 protein TIF1gamma promotes sumoylation of SKI-like proto-oncogene protein SnoN1 and regulates epithelial-mesenchymal transition (EMT).
    Title: TIF1γ protein regulates epithelial-mesenchymal transition by operating as a small ubiquitin-like modifier (SUMO) E3 ligase for the transcriptional regulator SnoN1.
Submit: New GeneRIF Correction See all GeneRIFs (50)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

NHGRI GWAS Catalog

Description
Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.
NHGRI GWA Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
 PubMed 
DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
SMAD binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
chromatin binding IEA
Inferred from Electronic Annotation
more info
  
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
transcription corepressor activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Process Evidence Code Pubs
blastocyst formation IEA
Inferred from Electronic Annotation
more info
  
cell cycle arrest IEA
Inferred from Electronic Annotation
more info
  
lens fiber cell differentiation IEA
Inferred from Electronic Annotation
more info
  
lymphocyte homeostasis IEA
Inferred from Electronic Annotation
more info
  
negative regulation of BMP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
negative regulation of cell differentiation IEA
Inferred from Electronic Annotation
more info
  
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
negative regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
  
negative regulation of transforming growth factor beta receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
positive regulation of axonogenesis IEA
Inferred from Electronic Annotation
more info
  
positive regulation of extrinsic apoptotic signaling pathway via death domain receptors IEA
Inferred from Electronic Annotation
more info
  
positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage IEA
Inferred from Electronic Annotation
more info
  
response to cytokine IEA
Inferred from Electronic Annotation
more info
  
spermatogenesis IEA
Inferred from Electronic Annotation
more info
  
transforming growth factor beta receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
  
nucleoplasm TAS
Traceable Author Statement
more info
  
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
 PubMed 
transcription factor complex IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 

General protein information

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Preferred Names
ski-like protein
Names
SKI-like oncogene
ski-related oncogene snoN

NCBI Reference Sequences (RefSeq)

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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_030357.1 RefSeqGene

    Range
    5031..44151
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145097.2 → NP_001138569.1  ski-like protein isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as SnoN2) differs in the 5' UTR and uses an alternate in-frame splice site in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
    Source sequence(s)
    AC073288, AI245308, U70730
    Consensus CDS
    CCDS46953.1
    UniProtKB/Swiss-Prot
    P12757
    Related
    ENSP00000400193.2, ENST00000413427.6
    Conserved Domains (4) summary
    smart01046
    Location:261 → 356
    c-SKI_SMAD_bind; c-SKI Smad4 binding domain
    pfam02437
    Location:136 → 235
    Ski_Sno; SKI/SNO/DAC family
    cd16269
    Location:593 → 604
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:478 → 626
    GBP_C; Guanylate-binding protein, C-terminal domain

  2. NM_001145098.3 → NP_001138570.1  ski-like protein isoform 3

    See identical proteins and their annotated locations for NP_001138570.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding region, and uses a downstream start codon compared to variant 1. The resulting protein (isoform 3) is shorter compared to isoform 1.
    Source sequence(s)
    AC073288, AI245308, AK300053, DA464211
    Consensus CDS
    CCDS46954.1
    UniProtKB/Swiss-Prot
    P12757
    Related
    ENSP00000406520.2, ENST00000426052.6
    Conserved Domains (4) summary
    smart01046
    Location:241 → 336
    c-SKI_SMAD_bind; c-SKI Smad4 binding domain
    pfam02437
    Location:116 → 215
    Ski_Sno; SKI/SNO/DAC family
    cd16269
    Location:619 → 630
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:504 → 652
    GBP_C; Guanylate-binding protein, C-terminal domain

  3. NM_001248008.1 → NP_001234937.1  ski-like protein isoform 1

    See identical proteins and their annotated locations for NP_001234937.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 and 4 both encode the same isoform (1).
    Source sequence(s)
    AC073288, AI245308, X15219
    Consensus CDS
    CCDS33890.1
    UniProtKB/Swiss-Prot
    P12757
    Related
    ENSP00000415243.3, ENST00000458537.7
    Conserved Domains (4) summary
    smart01046
    Location:261 → 356
    c-SKI_SMAD_bind; c-SKI Smad4 binding domain
    pfam02437
    Location:136 → 235
    Ski_Sno; SKI/SNO/DAC family
    cd16269
    Location:639 → 650
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:524 → 672
    GBP_C; Guanylate-binding protein, C-terminal domain

  4. NM_005414.5 → NP_005405.2  ski-like protein isoform 1

    See identical proteins and their annotated locations for NP_005405.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1, also known as snoN).
    Source sequence(s)
    AC073288, AI245308, BC059386, DA464211, X15219
    Consensus CDS
    CCDS33890.1
    UniProtKB/Swiss-Prot
    P12757
    Related
    ENSP00000259119.4, ENST00000259119.9
    Conserved Domains (4) summary
    smart01046
    Location:261 → 356
    c-SKI_SMAD_bind; c-SKI Smad4 binding domain
    pfam02437
    Location:136 → 235
    Ski_Sno; SKI/SNO/DAC family
    cd16269
    Location:639 → 650
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:524 → 672
    GBP_C; Guanylate-binding protein, C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    170357678..170396849
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713735.1 → XP_006713798.1  ski-like protein isoform X1

    See identical proteins and their annotated locations for XP_006713798.1

    UniProtKB/Swiss-Prot
    P12757
    Conserved Domains (4) summary
    smart01046
    Location:261 → 356
    c-SKI_SMAD_bind; c-SKI Smad4 binding domain
    pfam02437
    Location:136 → 235
    Ski_Sno; SKI/SNO/DAC family
    cd16269
    Location:639 → 650
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:524 → 672
    GBP_C; Guanylate-binding protein, C-terminal domain

  2. XM_005247721.1 → XP_005247778.1  ski-like protein isoform X1

    See identical proteins and their annotated locations for XP_005247778.1

    UniProtKB/Swiss-Prot
    P12757
    Conserved Domains (4) summary
    smart01046
    Location:261 → 356
    c-SKI_SMAD_bind; c-SKI Smad4 binding domain
    pfam02437
    Location:136 → 235
    Ski_Sno; SKI/SNO/DAC family
    cd16269
    Location:639 → 650
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:524 → 672
    GBP_C; Guanylate-binding protein, C-terminal domain

RNA

  1. XR_001740238.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P12757.2 GenPept UniProtKB/Swiss-Prot:P12757

Gene LinkOut

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