SKI

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.

Full Name

SKI Proto-Oncogene

Function

May play a role in terminal differentiation of skeletal muscle cells but not in the determination of cells to the myogenic lineage. Functions as a repressor of TGF-beta signaling.

Biological Process

Biological Process anterior/posterior axis specificationISS:BHF-UCL
Biological Process bone morphogenesisISS:BHF-UCL
Biological Process camera-type eye developmentISS:BHF-UCL
Biological Process camera-type eye morphogenesisISS:BHF-UCL
Biological Process cardiac muscle cell proliferationIEA:Ensembl
Biological Process cell motility1 PublicationNAS:BHF-UCL
Biological Process embryonic limb morphogenesisISS:BHF-UCL
Biological Process face morphogenesisISS:BHF-UCL
Biological Process lens morphogenesis in camera-type eyeISS:BHF-UCL
Biological Process myelination in peripheral nervous systemISS:BHF-UCL
Biological Process myotube differentiationManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process negative regulation of activin receptor signaling pathwayManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process negative regulation of BMP signaling pathwayManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process negative regulation of cell population proliferationManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process negative regulation of fibroblast proliferationISS:BHF-UCL
Biological Process negative regulation of osteoblast differentiationManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process negative regulation of Schwann cell proliferationManual Assertion Based On ExperimentIGI:MGI
Biological Process negative regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process negative regulation of transforming growth factor beta receptor signaling pathwayManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process neural tube closureISS:BHF-UCL
Biological Process nose morphogenesisISS:BHF-UCL
Biological Process olfactory bulb developmentISS:BHF-UCL
Biological Process positive regulation of DNA bindingManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process positive regulation of transcription by RNA polymerase IIISS:BHF-UCL
Biological Process positive regulation of Wnt signaling pathway1 PublicationNAS:BHF-UCL
Biological Process retina development in camera-type eyeISS:BHF-UCL
Biological Process roof of mouth developmentISS:BHF-UCL
Biological Process skeletal muscle fiber developmentISS:BHF-UCL
Biological Process SMAD protein signal transductionManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process somatic stem cell population maintenanceISS:BHF-UCL
Biological Process transforming growth factor beta receptor signaling pathway1 PublicationNAS:BHF-UCL

Cellular Location

Nucleus

Involvement in disease

Shprintzen-Goldberg craniosynostosis syndrome (SGS):
A very rare syndrome characterized by a marfanoid habitus, craniosynostosis, characteristic dysmorphic facial features, skeletal and cardiovascular abnormalities, intellectual disability, developmental delay and learning disabilities.

PTM

Ubiquitinated by RNF165, promoting proteasomal degradation, leading to enhance the BMP-Smad signaling.