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

Summary

Official Symbol: SKIprovided by HGNC
Official Full Name: SKI proto-oncogeneprovided by HGNC
Primary source: HGNC:HGNC:10896
See related: Ensembl:ENSG00000157933 MIM:164780; AllianceGenome:HGNC:10896
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: SGS; SKV
Summary: 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]
Expression: Ubiquitous expression in lung (RPKM 8.9), fat (RPKM 8.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.33-p36.32

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (2228319..2310213)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (1663728..1746139)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (2159758..2241652)

Chromosome 1 - NC_000001.11 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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle.
Title: Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle.
Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt.
Title: Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt.
Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-beta responses through SKI stabilization.
Title: Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization.
Knockdown of Ski decreases osteosarcoma cell proliferation and migration by suppressing the PI3K/Akt signaling pathway.
Title: Knockdown of Ski decreases osteosarcoma cell proliferation and migration by suppressing the PI3K/Akt signaling pathway.
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?
new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.
Title: A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.
c-Ski expression in cardiac muscle cells could be down-regulated by TGF-b1. Silencing of c-Ski gene was accompanied by down-regulation of E-cadherin, up-regulation of a-SMA and/or FN and Smad3 phosphorylation induced by TGF-b1, promoting EMT process.
Title: Silencing of c-Ski augments TGF-b1-induced epithelial-mesenchymal transition in cardiomyocyte H9C2 cells.
Data demonstrates gene expression changes in differentially methylated SKI gene in patients with age-related macular degeneration.
Title: Whole-genome methylation profiling of the retinal pigment epithelium of individuals with age-related macular degeneration reveals differential methylation of the SKI, GTF2H4, and TNXB genes.
Over-expressed c-Ski could enhance cell viability, promote cell invasion, and migration of gastric cancer associated fibroblasts.
Title: Overexpression of c-Ski promotes cell proliferation, invasion and migration of gastric cancer associated fibroblasts.
Ski is required for the fitness of hematopoietic stem cells , in which it suppresses TGF-beta signaling and abnormal RNA splicing. Active TGF-beta signaling and abnormal RNA splicing occur in a subset of patients with myelodysplastic syndrome who exhibit loss of SKI because of miR-21.
Title: SKI controls MDS-associated chronic TGF-β signaling, aberrant splicing, and stem cell fitness.

Submit: New GeneRIF Correction See all GeneRIFs (77)

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

Associated conditions

Description	Tests
Shprintzen-Goldberg syndrome MedGen: C1321551 OMIM: 182212 GeneReviews: Shprintzen-Goldberg Syndrome	Compare labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2012-01-06) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2012-01-06) ClinGen Genome Curation Page

EBI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. 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

SKI__6840 (e-PCR)
- UniSTS:466436

SHGC-149729 (e-PCR)
- UniSTS:177183

RH79610 (e-PCR)
- UniSTS:90220

SHGC-80908 (e-PCR)
- UniSTS:102547

D1S2515 (e-PCR)
- UniSTS:4519

SHGC-31449 (e-PCR)
- UniSTS:24525

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
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction 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
enables SMAD binding	IBA Inferred from Biological aspect of Ancestor more info
enables SMAD binding	IPI Inferred from Physical Interaction more info	PubMed
enables histone deacetylase inhibitor activity	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in anterior/posterior axis specification	ISS Inferred from Sequence or Structural Similarity more info
involved_in bone morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in camera-type eye development	ISS Inferred from Sequence or Structural Similarity more info
involved_in camera-type eye morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cardiac muscle cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in cell motility	NAS Non-traceable Author Statement more info	PubMed
involved_in embryonic limb morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in face morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in lens morphogenesis in camera-type eye	ISS Inferred from Sequence or Structural Similarity more info
involved_in myelination in peripheral nervous system	ISS Inferred from Sequence or Structural Similarity more info
involved_in myotube differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of BMP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of SMAD protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of Schwann cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of activin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of fibroblast proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of osteoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transforming growth factor beta receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of transforming growth factor beta receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of transforming growth factor beta receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neural tube closure	ISS Inferred from Sequence or Structural Similarity more info
involved_in nose morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in olfactory bulb development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA binding	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of Wnt signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in retina development in camera-type eye	ISS Inferred from Sequence or Structural Similarity more info
involved_in roof of mouth development	ISS Inferred from Sequence or Structural Similarity more info
involved_in skeletal muscle fiber development	ISS Inferred from Sequence or Structural Similarity more info
involved_in somatic stem cell population maintenance	ISS Inferred from Sequence or Structural Similarity more info
involved_in transforming growth factor beta receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in PML body	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear body	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	IBA Inferred from Biological aspect of Ancestor more info
part_of transcription regulator complex	ISS Inferred from Sequence or Structural Similarity more info
part_of transcription repressor complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: ski oncogene

Names: Sloan-Kettering Institute proto-oncogene; proto-oncogene c-Ski; ski oncoprotein; v-ski avian sarcoma viral oncogene homolog

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_013084.1 RefSeqGene

Range

4625..86519

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003036.4 → NP_003027.1 ski oncogene

See identical proteins and their annotated locations for NP_003027.1

Status: REVIEWED

Source sequence(s)

AL590822, X15218

Consensus CDS

CCDS39.1

UniProtKB/Swiss-Prot

P12755, Q5SYT7

Related

ENSP00000367797.4, ENST00000378536.5

Conserved Domains (4) summary

smart01046
Location:217 → 312

c-SKI_SMAD_bind; c-SKI Smad4 binding domain

COG1196
Location:538 → 709

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd21083
Location:91 → 192

DHD_Ski; Dachshund-homology domain found in Ski and similar proteins

NF033913
Location:383 → 481

fibronec_FbpA; LPXTG-anchored fibronectin-binding protein FbpA

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

2228319..2310213

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005244775.4 → XP_005244832.1 ski oncogene isoform X1

See identical proteins and their annotated locations for XP_005244832.1

Conserved Domains (4) summary

smart01046
Location:217 → 312

c-SKI_SMAD_bind; c-SKI Smad4 binding domain

COG1196
Location:540 → 711

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd21083
Location:91 → 192

DHD_Ski; Dachshund-homology domain found in Ski and similar proteins

NF033913
Location:383 → 481

fibronec_FbpA; LPXTG-anchored fibronectin-binding protein FbpA
XM_005244776.5 → XP_005244833.1 ski oncogene isoform X3

Conserved Domains (2) summary

pfam13863
Location:308 → 416

DUF4200; Domain of unknown function (DUF4200)

cl12013
Location:255 → 317

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
XM_047428466.1 → XP_047284422.1 ski oncogene isoform X4
XM_017002128.2 → XP_016857617.1 ski oncogene isoform X2