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

Gene ID: 6497, updated on 7-Dec-2018

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
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

Genomic context

See SKI in Genome Data Viewer
Location:
1p36.33-p36.32
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (2228695..2310213)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (2160134..2241652)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268219 Neighboring gene FA core complex associated protein 20 Neighboring gene uncharacterized LOC105378593 Neighboring gene FA core complex associated protein 20 Neighboring gene MORN repeat containing 1 Neighboring gene small nuclear ribonucleoprotein polypeptide N pseudogene Neighboring gene retention in endoplasmic reticulum sorting receptor 1 Neighboring gene peroxisomal biogenesis factor 10

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • BMP receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
    BMP receptor signaling, organism-specific biosystem
    BMP receptor signaling
  • C-MYB transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
    C-MYB transcription factor network, organism-specific biosystem
    C-MYB transcription factor network
  • Downregulation of SMAD2/3:SMAD4 transcriptional activity, organism-specific biosystem (from REACTOME)
    Downregulation of SMAD2/3:SMAD4 transcriptional activity, organism-specific biosystemTranscriptional activity of SMAD2/3:SMAD4 heterotrimer can be inhibited by formation of a complex with SKI or SKIL (SNO), where SKI or SKIL recruit NCOR and possibly other transcriptional repressors ...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • Regulation of nuclear SMAD2/3 signaling, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of nuclear SMAD2/3 signaling, organism-specific biosystem
    Regulation of nuclear SMAD2/3 signaling
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by BMP, organism-specific biosystem (from REACTOME)
    Signaling by BMP, organism-specific biosystemBone morphogenetic proteins (BMPs) have many biological activities in various tissues, including bone, cartilage, blood vessels, heart, kidney, neurons, liver and lung. They are members of the Transf...
  • Signaling by TGF-beta Receptor Complex, organism-specific biosystem (from REACTOME)
    Signaling by TGF-beta Receptor Complex, organism-specific biosystemThe TGF-beta/BMP pathway incorporates several signaling pathways that share most, but not all, components of a central signal transduction engine. The general signaling scheme is rather simple: upon ...
  • TGF-beta Receptor Signaling, organism-specific biosystem (from WikiPathways)
    TGF-beta Receptor Signaling, organism-specific biosystemThe Transforming growth factor beta (TGFβ) signaling pathway is involved in many cellular processes in both the adult organism and the developing embryo including cell growth, cell differentiat...
  • TGF-beta Signaling Pathway, organism-specific biosystem (from WikiPathways)
    TGF-beta Signaling Pathway, organism-specific biosystemThe signal transduction mechanisms underlying the pathophysiological activities of transforming growth factor-? (TGF-?) have been extensively studied since its discovery nearly 30 years ago. TGF-? li...
  • Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer, organism-specific biosystem (from REACTOME)
    Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer, organism-specific biosystemIn the nucleus, SMAD2/3:SMAD4 heterotrimer complex acts as a transcriptional regulator. The activity of SMAD2/3 complex is regulated both positively and negatively by association with other transcrip...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
SMAD binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SMAD binding IPI
Inferred from Physical Interaction
more info
PubMed 
histone deacetylase inhibitor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
repressing transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription corepressor activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription corepressor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
BMP signaling pathway TAS
Traceable Author Statement
more info
 
SMAD protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
anterior/posterior axis specification ISS
Inferred from Sequence or Structural Similarity
more info
 
bone morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
camera-type eye development ISS
Inferred from Sequence or Structural Similarity
more info
 
camera-type eye morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cell motility NAS
Non-traceable Author Statement
more info
PubMed 
cell proliferation NAS
Non-traceable Author Statement
more info
PubMed 
embryonic limb morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
face morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
lens morphogenesis in camera-type eye ISS
Inferred from Sequence or Structural Similarity
more info
 
myelination in peripheral nervous system ISS
Inferred from Sequence or Structural Similarity
more info
 
myotube differentiation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of BMP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of BMP signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of BMP signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of Schwann cell proliferation IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of activin receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of fibroblast proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of histone deacetylation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of osteoblast differentiation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
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 
negative regulation of transforming growth factor beta receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transforming growth factor beta receptor signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of transforming growth factor beta receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
neural tube closure ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nose morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
olfactory bulb development ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of Wnt signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
protein homotrimerization IDA
Inferred from Direct Assay
more info
PubMed 
retina development in camera-type eye ISS
Inferred from Sequence or Structural Similarity
more info
 
roof of mouth development ISS
Inferred from Sequence or Structural Similarity
more info
 
skeletal muscle fiber development ISS
Inferred from Sequence or Structural Similarity
more info
 
somatic stem cell population maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
transforming growth factor beta receptor signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
PML body IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
nuclear body IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor complex ISS
Inferred from Sequence or Structural Similarity
more info
 
transcriptional repressor complex ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
ski oncogene
Names
proto-oncogene c-Ski
ski oncoprotein
v-ski avian sarcoma viral oncogene homolog

NCBI Reference Sequences (RefSeq)

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_013084.1 RefSeqGene

    Range
    5001..86519
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003036.4NP_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
    Related
    ENSP00000367797.4, ENST00000378536.4
    Conserved Domains (4) summary
    smart01046
    Location:217312
    c-SKI_SMAD_bind; c-SKI Smad4 binding domain
    pfam02437
    Location:92190
    Ski_Sno; SKI/SNO/DAC family
    cl25732
    Location:538709
    SMC_N; RecF/RecN/SMC N terminal domain
    cl25751
    Location:318478
    DUF4045; Domain of unknown function (DUF4045)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    2228695..2310213
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005244775.3XP_005244832.1  ski oncogene isoform X1

    See identical proteins and their annotated locations for XP_005244832.1

    Conserved Domains (4) summary
    smart01046
    Location:217312
    c-SKI_SMAD_bind; c-SKI Smad4 binding domain
    pfam02437
    Location:92190
    Ski_Sno; SKI/SNO/DAC family
    cl25732
    Location:540711
    SMC_N; RecF/RecN/SMC N terminal domain
    cl25751
    Location:318478
    DUF4045; Domain of unknown function (DUF4045)
  2. XM_005244776.4XP_005244833.1  ski oncogene isoform X3

    Conserved Domains (2) summary
    pfam13863
    Location:308416
    DUF4200; Domain of unknown function (DUF4200)
    cl12013
    Location:255317
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  3. XM_017002128.1XP_016857617.1  ski oncogene isoform X2

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