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

Summary

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; AllianceGenome:HGNC:10897
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
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Genomic context

Location:: 3q26.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (170357715..170396849)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (173142367..173181517)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (170075503..170114637)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ATAD3B and SKIL polymorphisms associated with antipsychotic-induced QTc interval change in patients with schizophrenia: a genome-wide association study.
Title: ATAD3B and SKIL polymorphisms associated with antipsychotic-induced QTc interval change in patients with schizophrenia: a genome-wide association study.
PIAS1 and TIF1gamma collaborate to promote SnoN SUMOylation and suppression of epithelial-mesenchymal transition.
Title: PIAS1 and TIF1γ collaborate to promote SnoN SUMOylation and suppression of epithelial-mesenchymal transition.
SKIL facilitates tumorigenesis and immune escape of NSCLC via upregulating TAZ/autophagy axis.
Title: SKIL facilitates tumorigenesis and immune escape of NSCLC via upregulating TAZ/autophagy axis.
Ski, SnoN, and Smad4 seem to play a role in oral squamous cell carcinoma oncogenesis, and it is likely that Ski and SnoN functions may take place independent of Smad4.
Title: Are Ski and SnoN Involved in the Tumorigenesis of Oral Squamous Cell Carcinoma Through Smad4?
Our study verified that miR-130a-3p facilitates the TGF-b1/Smad pathway in renal tubular epithelial cells and may participate in renal fibrosis by targeting SnoN, which could be a possible strategy for renal fibrosis treatment.
Title: miR-130a-3p inhibition protects against renal fibrosis in vitro via the TGF-β1/Smad pathway by targeting SnoN.
SKIL role in the tumorigenesis and metastasis of colorectal cancer.SNHG14 promotes the tumorigenesis and metastasis of colorectal cancer through miR-32-5p/ski-oncogene-like SKIL axis.SKIL is a downstream target gene of miR-32-5p.
Title: SNHG14 promotes the tumorigenesis and metastasis of colorectal cancer through miR-32-5p/SKIL axis.
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.
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (56)

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

EBI GWAS Catalog

Description
Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-35445 (e-PCR)
- UniSTS:62476

STS-X15217 (e-PCR)
- UniSTS:66334

WI-9234 (e-PCR)
- UniSTS:72760

G15941 (e-PCR)
- UniSTS:24405

D10S16 (e-PCR)
- UniSTS:155756

D1S1423 (e-PCR)
- UniSTS:149619

SHGC-77527 (e-PCR)
- UniSTS:82816

STS-X15219 (e-PCR)
- UniSTS:69562

RH102143 (e-PCR)
- UniSTS:96477

RH68630 (e-PCR)
- UniSTS:75236

Homology

Homologs of the SKIL gene: The SKIL gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 335 organisms have orthologs with human gene SKIL
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables SMAD binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables chromatin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in blastocyst formation	IEA Inferred from Electronic Annotation more info
involved_in extrinsic apoptotic signaling pathway via death domain receptors	IEA Inferred from Electronic Annotation more info
involved_in intrinsic apoptotic signaling pathway in response to DNA damage	IEA Inferred from Electronic Annotation more info
involved_in lens fiber cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in lymphocyte homeostasis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of BMP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in negative regulation of cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of axonogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of extrinsic apoptotic signaling pathway via death domain receptors	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell cycle	IEA Inferred from Electronic Annotation more info
involved_in response to cytokine	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info
involved_in transforming growth factor beta receptor signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in acrosomal vesicle	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay 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

NG_030357.1 RefSeqGene

Range

5031..44151

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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, Q07501

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
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, Q07501

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 Annotation Release 110 details...

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

170357715..170396849

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

See identical proteins and their annotated locations for XP_005247778.1

UniProtKB/Swiss-Prot

P12757, Q07501

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
XM_006713735.2 → XP_006713798.1 ski-like protein isoform X1

See identical proteins and their annotated locations for XP_006713798.1

UniProtKB/Swiss-Prot

P12757, Q07501

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