SKIL Gene Summary [Human]
The protein encoded by this gene is a component of the SMAD pathway, which regulates cell growth and differentiation through transforming growth factor-beta (TGFB). In the absence of ligand, the encoded protein binds to the promoter region of TGFB-responsive genes and recruits a nuclear repressor complex. TGFB signaling causes SMAD3 to enter the nucleus and degrade this protein, allowing these genes to be activated. Four transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Details
| Type | Processed Transcript |
| Official Symbol | SKIL |
| Official Name | SKI like proto-oncogene [Source:HGNC Symbol;Acc:HGNC:10897] |
| Ensembl ID | ENSG00000136603 |
| Bio databases IDs | |
| Aliases | SKI like proto-oncogene |
| Synonyms | 9130011J04RIK, SKI-like, SKI-like proto-oncogene, SKIR, SNO, SnoA, SnoN |
| 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 SKIL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SMAD binding
- transcription regulator
- Sumoylation motif
- smad binding domain
- leucine zipper domain
- chromatin binding
- tandem repeat
- identical protein binding
- destruction box
- Family with sequence similarity 184, A and B
- c-SKI Smad4 binding domain
- Cell division protein ZapB
- TPR/MLP1/MLP2-like protein
- Domain of unknown function (DUF4515)
- nucleic acid binding
- oligomerization domain
- SKI/SNO/DAC family
- protein domain specific binding
- protein binding
- sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- MAP7 (E-MAP-115) family
- binding protein
- double-stranded DNA binding
- DHD_Ski_Sno_Dac
- Domain of unknown function (DUF4200)
Pathways
Biological processes and signaling networks where the SKIL 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
- prostate cancer
- cachexia
- metastasis
- epithelial cancer
- tinnitus
- papillomatosis
- epithelial neoplasia
- benign neoplasia
role in cell
- expression in
- proliferation
- transcription in
- binding in
- migration
- epithelial-mesenchymal transition
- growth
- apoptosis
- differentiation
- transformation
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
- Cytoplasm
- nucleoplasm
- acrosome
- PML nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SKIL gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to cytokine stimulus
- spermatogenesis
- transforming growth factor beta receptor signaling pathway
- lymphocyte homeostasis
- DNA damage response, signal transduction resulting in induction of apoptosis
- induction of apoptosis via death domain receptors
- negative regulation of transcription from RNA polymerase II promoter
- negative regulation of BMP signaling pathway
- positive regulation of axonogenesis
- negative regulation of cell differentiation
- blastocyst formation
- regulation of cell cycle
- lens fiber cell differentiation
- 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
- cytoplasm
- acrosomal vesicle
- macromolecular complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein 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
- chromatin binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity