Free for academic non-profit institutions. Other users need a Commercial license
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]
SKI (SKI Proto-Oncogene) is a Protein Coding gene. Diseases associated with SKI include Shprintzen-Goldberg Craniosynostosis Syndrome and Chromosome 1P36 Deletion Syndrome. Among its related pathways are Signaling by GPCR and Signaling by BMP. Gene Ontology (GO) annotations related to this gene include chromatin binding and ubiquitin protein ligase binding. An important paralog of this gene is SKIL.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0003714 | transcription corepressor activity | IMP | 12435627 |
GO:0005515 | protein binding | IPI | 8514802 |
GO:0008270 | zinc ion binding | IDA | 12419246 |
GO:0019901 | protein kinase binding | IPI | 12874272 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA,IDA | 17054724 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005667 | transcription factor complex | ISS | -- |
GO:0005737 | cytoplasm | ISS | -- |
GO:0005813 | centrosome | IDA | 21600873 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer | ||
2 | Gene Expression |
.48
|
|
3 | Signaling by BMP |
.33
|
|
4 | SMAD Signaling Network |
SMAD Signaling Network
-
|
|
5 | TGF-Beta Pathway |
TGF-Beta Pathway
.60
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | TAS | -- |
GO:0001843 | neural tube closure | ISS | -- |
GO:0002089 | lens morphogenesis in camera-type eye | ISS | -- |
GO:0006351 | transcription, DNA-templated | IEA | -- |
GO:0007179 | transforming growth factor beta receptor signaling pathway | NAS | 14583455 |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||
SP2: | |||||||||||||||||||||
SP3: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SKI 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SKI 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SKI 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ski 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ski 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | SKI 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SKI 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SKI 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SKI 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ski 30 |
|
||
Str.1843 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.102 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | skia 30 31 |
|
OneToMany | |
skib 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG7233 32 |
|
|
|
Snoo 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636979 | Uncertain Significance: not provided | 2,303,964(+) | C/T | MISSENSE_VARIANT | |
640684 | Uncertain Significance: Shprintzen-Goldberg syndrome | 2,306,245(+) | G/A | MISSENSE_VARIANT | |
647062 | Uncertain Significance: Shprintzen-Goldberg syndrome | 2,303,949(+) | C/T | MISSENSE_VARIANT | |
647183 | Uncertain Significance: Shprintzen-Goldberg syndrome | 2,228,962(+) | G/C | MISSENSE_VARIANT | |
648597 | Uncertain Significance: Shprintzen-Goldberg syndrome | 2,229,664(+) | C/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv48n54 | CNV | loss | 21841781 |
dgv49n54 | CNV | loss | 21841781 |
dgv4n67 | CNV | gain | 20364138 |
esv1025209 | CNV | deletion | 17803354 |
esv1164473 | CNV | deletion | 17803354 |
esv1252402 | CNV | deletion | 17803354 |
esv1536883 | CNV | deletion | 17803354 |
esv1682069 | CNV | deletion | 17803354 |
esv22780 | CNV | gain+loss | 19812545 |
esv2648351 | CNV | loss | 19546169 |
esv2673961 | CNV | deletion | 23128226 |
esv3585023 | CNV | loss | 21293372 |
nsv461727 | CNV | loss | 19166990 |
nsv463949 | CNV | loss | 19166990 |
nsv465060 | CNV | loss | 19166990 |
nsv470682 | CNV | loss | 18288195 |
nsv4742 | CNV | insertion | 18451855 |
nsv482937 | CNV | loss | 15286789 |
nsv528621 | CNV | loss | 19592680 |
nsv545067 | CNV | loss | 21841781 |
nsv545068 | CNV | loss | 21841781 |
nsv545069 | CNV | gain | 21841781 |
nsv545070 | CNV | loss | 21841781 |
nsv545071 | CNV | gain | 21841781 |
nsv823031 | CNV | gain | 20364138 |
nsv823364 | CNV | gain | 20364138 |
nsv834557 | CNV | loss | 17160897 |
nsv834668 | CNV | loss | 17160897 |
nsv951530 | CNV | deletion | 24416366 |
nsv951531 | CNV | deletion | 24416366 |
nsv951557 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
shprintzen-goldberg craniosynostosis syndrome |
|
|
chromosome 1p36 deletion syndrome |
|
|
craniosynostosis |
|
|
sarcoma |
|
|
lung sarcoma |
|
|