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

Gene ID: 6497, updated on 23-Oct-2014
Official Symbol
SKIprovided by HGNC
Official Full Name
SKI proto-oncogeneprovided by HGNC
Primary source
HGNC:HGNC:10896
See related
Ensembl:ENSG00000157933; HPRD:01271; MIM:164780; Vega:OTTHUMG00000001407
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]
Location:
1p36.33
Exon count:
8
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 protein kinase C, zeta Neighboring gene uncharacterized LOC100506504 Neighboring gene chromosome 1 open reading frame 86 Neighboring gene small nuclear ribonucleoprotein polypeptide N pseudogene Neighboring gene MORN repeat containing 1 Neighboring gene retention in endoplasmic reticulum sorting receptor 1 Neighboring gene peroxisomal biogenesis factor 10

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
  • BMP Signalling Pathway, organism-specific biosystem (from BIOCYC)
    BMP Signalling Pathway, organism-specific biosystemThe TGF-beta/BMP (bone morphogenetic protein) pathway incorporates several signalling pathways that share most, but not all, components of a central signal transduction engine. The general signalling...
  • 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
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • 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...
  • Hedgehog Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Hedgehog Signaling Pathway, organism-specific biosystemThe Hedgehog proteins are a family of secreted ligands that include sonic hedgehog, Indian hedgehog and desert hedgehog in humans. Binding of Hedgehog ligands to their receptors, Patched 1 and 2, pre...
  • Loss of Function of SMAD2/3 in Cancer, organism-specific biosystem (from REACTOME)
    Loss of Function of SMAD2/3 in Cancer, organism-specific biosystemLoss-of-function of SMAD2 and SMAD3 in cancer occurs less frequently than the loss of SMAD4 function and was studied in most detail in colorectal cancer (Fleming et al. 2013). Similarly to SMAD4, cod...
  • Loss of Function of SMAD4 in Cancer, organism-specific biosystem (from REACTOME)
    Loss of Function of SMAD4 in Cancer, organism-specific biosystemSMAD4 was identified as a gene homozygously deleted in ~30% of pancreatic cancers and was named DPC4 (DPC stands for deleted in pancreatic cancer). SMAD4 maps to the chromosomal band 18q21.1, and abo...
  • Loss of Function of TGFBR1 in Cancer, organism-specific biosystem (from REACTOME)
    Loss of Function of TGFBR1 in Cancer, organism-specific biosystemTGF-beta receptor 1 (TGFBR1) loss-of-function is a less frequent mechanism for inactivation of TGF-beta signaling in cancer compared to SMAD4 and TGFBR2 inactivation. Genomic deletion of TGFBR1 locus...
  • Loss of Function of TGFBR2 in Cancer, organism-specific biosystem (from REACTOME)
    Loss of Function of TGFBR2 in Cancer, organism-specific biosystemLoss-of-function of transforming growth factor-beta receptor II (TGFBR2) is most prevalent in colorectal cancer. Over 60% of colorectal cancers with microsatellite instability (MSI) harbor inactivati...
  • 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
  • SMAD2/3 MH2 Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
    SMAD2/3 MH2 Domain Mutants in Cancer, organism-specific biosystemMutations in the MH2 domain of SMAD2 and SMAD3 affect their ability to form heterotrimers with SMAD4, thereby impairing TGF-beta signaling (Fleming et al. 2013).The SMAD2 and SMAD3 MH2 domain residue...
  • SMAD2/3 Phosphorylation Motif Mutants in Cancer, organism-specific biosystem (from REACTOME)
    SMAD2/3 Phosphorylation Motif Mutants in Cancer, organism-specific biosystemThe conserved phosphorylation motif Ser-Ser-X-Ser at the C-terminus of SMAD2 and SMAD3 is subject to disruptive mutations in cancer. The last two serine residues in this conserved motif, namely Ser46...
  • SMAD4 MH2 Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
    SMAD4 MH2 Domain Mutants in Cancer, organism-specific biosystemThe MH2 domain of SMAD4 is the most frequently mutated SMAD4 region in cancer. MH2 domain mutations result in the loss of function of SMAD4 by abrogating the formation of transcriptionally active het...
  • 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 biosystemThe TGF-beta/BMP (bone morphogenetic protein) pathway incorporates several signalling pathways that share most, but not all, components of a central signal transduction engine. The general signalling...
  • 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 ...
  • Signaling by TGF-beta Receptor Complex in Cancer, organism-specific biosystem (from REACTOME)
    Signaling by TGF-beta Receptor Complex in Cancer, organism-specific biosystemSignaling by the TGF-beta receptor complex is tumor suppressive, as it inhibits cell growth and promotes cell differentiation and apoptosis (Shipley et al. 1986, Hannon et al. 1994, Datto et al. 1995...
  • TGF Beta Signaling Pathway, organism-specific biosystem (from WikiPathways)
    TGF Beta Signaling Pathway, 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 Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
    TGF-beta Receptor Signaling Pathway, organism-specific biosystem"The TGF beta receptors TGFBR1 and TGFBR2 belong to a subfamily of membrane-bound serine/threonine kinases which are designated as Type I or II based on their structural and functional properties. Th...
  • TGFBR1 KD Mutants in Cancer, organism-specific biosystem (from REACTOME)
    TGFBR1 KD Mutants in Cancer, organism-specific biosystemMutations in the kinase domain (KD) of TGF-beta receptor 1 (TGFBR1) have been found in Ferguson-Smith tumor i.e. multiple self-healing squamous epithelioma - MSSE (Goudie et al. 2011), breast cancer ...
  • TGFBR1 LBD Mutants in Cancer, organism-specific biosystem (from REACTOME)
    TGFBR1 LBD Mutants in Cancer, organism-specific biosystemMutations in the ligand-binding domain (LBD) of TGF-beta receptor 1 (TGFBR1) have been reported as germline mutations in Ferguson-Smith tumor (multiple self-healing squamous epithelioma - MSSE), an a...
  • TGFBR2 Kinase Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
    TGFBR2 Kinase Domain Mutants in Cancer, organism-specific biosystemMissense mutations in the kinase domain (KD) of TGF-beta receptor II (TGFBR2) are found in ~20% of microsatellite stable (MSS) colon cancers and make affected tumors resistant to TGF-beta (TGFB1)-med...
  • TGFBR2 MSI Frameshift Mutants in Cancer, organism-specific biosystem (from REACTOME)
    TGFBR2 MSI Frameshift Mutants in Cancer, organism-specific biosystemThe short adenine repeat in the coding sequence of TGF-beta receptor II (TGFBR2) gene is frequently targeted by loss-of-function frameshift mutations in colon cancers with microsatellite instability ...
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SMAD binding IPI
Inferred from Physical Interaction
more info
PubMed 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
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
 
gene expression TAS
Traceable Author Statement
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 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 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 from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription from RNA polymerase II promoter IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
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
 
nose morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
olfactory bulb development ISS
Inferred from Sequence or Structural Similarity
more info
 
palate 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 from RNA polymerase II promoter ISS
Inferred from Sequence or Structural Similarity
more info
 
protein homotrimerization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
 
retina development in camera-type eye 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 maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
transcription, DNA-templated TAS
Traceable Author Statement
more info
 
transforming growth factor beta receptor signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
transforming growth factor beta receptor signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
PML body IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
nuclear body IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
protein complex IDA
Inferred from Direct Assay
more info
 
transcription factor complex ISS
Inferred from Sequence or Structural Similarity
more info
 
transcriptional repressor complex ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
ski oncogene
Names
ski oncogene
ski oncoprotein
proto-oncogene c-Ski
v-ski avian sarcoma viral oncogene homolog

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 

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

mRNA and Protein(s)

  1. NM_003036.3NP_003027.1  ski oncogene

    See proteins identical to NP_003027.1

    Status: REVIEWED

    Source sequence(s)
    AL590822, X15218
    Consensus CDS
    CCDS39.1
    UniProtKB/Swiss-Prot
    P12755
    Related
    ENSP00000367797, OTTHUMP00000001507, ENST00000378536, OTTHUMT00000004070
    Conserved Domains (5) summary
    pfam02437
    Location:93192
    Ski_Sno; SKI/SNO/DAC family
    pfam08782
    Location:219312
    c-SKI_SMAD_bind; c-SKI Smad4 binding domain
    cl08159
    Location:569647
    DUF2810; Protein of unknown function (DUF2810)
    pfam13863
    Location:596707
    DUF4200; Domain of unknown function (DUF4200)
    cl19113
    Location:604708
    ApoLp-III_like; Apolipophorin-III and similar insect proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

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

mRNA and Protein(s)

  1. XM_005244775.1XP_005244832.1  

    See proteins identical to XP_005244832.1

    Conserved Domains (5) summary
    pfam02437
    Location:93192
    Ski_Sno; SKI/SNO/DAC family
    pfam08782
    Location:219312
    c-SKI_SMAD_bind; c-SKI Smad4 binding domain
    cl08159
    Location:571649
    DUF2810; Protein of unknown function (DUF2810)
    pfam03938
    Location:606707
    OmpH; Outer membrane protein (OmpH-like)
    pfam13863
    Location:598709
    DUF4200; Domain of unknown function (DUF4200)
  2. XM_005244776.2XP_005244833.1  

    Conserved Domains (2) summary
    pfam07946
    Location:267360
    DUF1682; Protein of unknown function (DUF1682)
    pfam13863
    Location:308419
    DUF4200; Domain of unknown function (DUF4200)

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    1435430..1516081
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    2147183..2227893
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)