SKI Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | SKI |
| Official Name | SKI proto-oncogene [Source:HGNC Symbol;Acc:HGNC:10896] |
| Ensembl ID | ENSG00000157933 |
| Bio databases IDs | |
| Aliases | SKI proto-oncogene, Sloan-Kettering Institute proto-oncogene |
| Synonyms | 2310012I02Rik, 2610001A11Rik, c-SKI, RGD1565591, SGS, SKI proto-oncogene, ski sarcoma viral oncogene homolog (avian), SKV |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SKI often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- KDWK domain
- SMAD binding
- transcription regulator
- transcription co-repressor
- histone deacetylase inhibitor activity
- transcription factor binding
- coiled-coil domain
- leucine zipper domain
- chromatin binding
- tandem repeat
- identical protein binding
- proline rich domain
- zinc ion binding
- Cortactin-binding protein-2
- c-SKI Smad4 binding domain
- basic domain
- cysteine rich domain
- ubiquitin protein ligase binding
- TPR/MLP1/MLP2-like protein
- Domain of unknown function (DUF4515)
- N-CoR binding domain
- protein kinase binding
- Sin3 binding domain
- SKI/SNO/DAC family
- helical domain
- protein domain specific binding
- protein binding
- msin3a protein-binding domain
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- c-Jun binding domain
- Growth-arrest specific micro-tubule binding
- Apolipoprotein A1/A4/E domain
- DHD_Ski_Sno_Dac
- Domain of unknown function (DUF4200)
Pathways
Biological processes and signaling networks where the SKI gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- cancer
- metastasis
- Shprintzen syndrome
- metabolic syndrome X
- tumorigenesis
- bleeding
- non-insulin-dependent diabetes mellitus
- renal fibrosis
- hereditary disorder
role in cell
- expression in
- destabilization in
- proliferation
- apoptosis
- regulation
- growth
- cell cycle progression
- transformation
- differentiation
- abnormal morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- Cytoplasm
- centrosome
- Golgi Apparatus
- cytoplasmic particles
- nucleoplasm
- nuclear bodies
- spindle pole
- early endosomes
- multivesicular bodies
- membrane rafts
- cleavage furrow
- PML nuclear bodies
- mitotic spindle
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SKI gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- retina development in camera-type eye
- negative regulation of cell proliferation
- palate development
- nose morphogenesis
- bone morphogenesis
- transforming growth factor beta receptor signaling pathway
- positive regulation of DNA binding
- positive regulation of transcription from RNA polymerase II promoter
- olfactory bulb development
- lens morphogenesis in camera-type eye
- face morphogenesis
- negative regulation of osteoblast differentiation
- negative regulation of transcription from RNA polymerase II promoter
- anterior/posterior axis specification
- embryonic limb morphogenesis
- myelination in peripheral nervous system
- neural tube closure
- negative regulation of fibroblast proliferation
- skeletal muscle fiber development
- negative regulation of activin receptor signaling pathway
- camera-type eye development
- somatic stem cell maintenance
- negative regulation of SMAD protein import into nucleus
- cardiac muscle cell proliferation
- negative regulation of BMP signaling pathway
- cell motility
- camera-type eye morphogenesis
- negative regulation of Schwann cell proliferation
- myotube differentiation
- positive regulation of Wnt receptor signaling pathway
- negative regulation of transforming growth factor beta receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- nucleus
- transcription factor complex
- centrosome
- nuclear body
- PML body
- cytoplasm
- transcriptional repressor complex
- macromolecular complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- protein domain specific binding
- zinc ion binding
- identical protein binding
- protein binding
- ubiquitin protein ligase binding
- SMAD binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- histone deacetylase inhibitor activity
- sequence-specific DNA binding RNA polymerase II transcription factor activity