SKIL
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| SKI like proto-oncogene | MIM:165340 | Ensembl:ENSG00000136603 | HGNC:HGNC:10897 | PA35797 | 3q26.2 |
Gene Categories:
TUMOR SUPPRESSORGO terms in SKIL
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IDA | GO:0001078 | transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | IEA | GO:0003682 | chromatin binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0046332 | SMAD binding |
| BP | TAS | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0001825 | blastocyst formation |
| BP | IEA | GO:0002260 | lymphocyte homeostasis |
| BP | IEA | GO:0007050 | cell cycle arrest |
| BP | IEA | GO:0007179 | transforming growth factor beta receptor signaling pathway |
| BP | IEA | GO:0007283 | spermatogenesis |
| BP | IBA | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway |
| BP | IBA | GO:0030514 | negative regulation of BMP signaling pathway |
| BP | IEA | GO:0034097 | response to cytokine |
| BP | IBA | GO:0045596 | negative regulation of cell differentiation |
| BP | IBA | GO:0048666 | neuron development |
| BP | IEA | GO:0050772 | positive regulation of axonogenesis |
| BP | IEA | GO:0070306 | lens fiber cell differentiation |
| BP | IEA | GO:1902043 | positive regulation of extrinsic apoptotic signaling pathway via death domain receptors |
| BP | IEA | GO:1902231 | positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage |
| CC | IEA | GO:0001669 | acrosomal vesicle |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0032991 | protein-containing complex |
Gene expression in normal tissue: SKIL
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SKIL
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| biocarta | tgfbpathway | tgf beta signaling pathway |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-170834 | Signaling by TGF-beta Receptor Complex |
| reactome | R-HSA-170834 | Signaling by TGF-beta Receptor Complex |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-2173793 | Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer |
| reactome | R-HSA-2173793 | Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer |
| reactome | R-HSA-2173795 | Downregulation of SMAD2/3:SMAD4 transcriptional activity |
| reactome | R-HSA-2173795 | Downregulation of SMAD2/3:SMAD4 transcriptional activity |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-9006936 | Signaling by TGF-beta family members |
| reactome | R-HSA-9006936 | Signaling by TGF-beta family members |
| wikipathways | WP2858 | Ectoderm Differentiation |
| wikipathways | WP3624 | Lung fibrosis |
| wikipathways | WP366 | TGF-beta Signaling Pathway |
| wikipathways | WP560 | TGF-beta Receptor Signaling |
| pid | smad2_3nuclearpathway | Regulation of nuclear SMAD2/3 signaling |
| kegg | hsa04550 | Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human) |
| netpath | Pathway_TGF_beta_Receptor | TGF_beta_Receptor |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD781 | Sirolimus | 3 |
| iGMDRD494 | Neopeltolide | 3 |
| iGMDRD427 | ABT737 | 2 |
| iGMDRD889 | Compound 7d-cis | 3 |
| iGMDRD512 | nutlin 3 | 1 |
| iGMDRD126 | Tipifarnib | 3 |
| iGMDRD154 | NSC23766 | 4 |
| iGMDRD375 | GW-405833 | 2 |
| iGMDRD280 | CYTOCHALASIN B | 4 |
| iGMDRD297 | Austocystin D | 2 |
| iGMDRD314 | Tanespimycin | 8 |
| iGMDRD57 | Chloropentafluorobenzene | 2 |
| iGMDRD85 | Ursolic acid | 4 |
| iGMDRD294 | Batimastat | 2 |
| iGMDRD870 | BRD63610 | 2 |
| iGMDRD187 | BRD9876 | 1 |
| iGMDRD801 | 2,4-dideoxy-DC-45-A2 | 2 |
| iGMDRD226 | ML006 | 3 |
| iGMDRD158 | NSC141540 | 4 |
| iGMDRD137 | Indisulam | 3 |
| iGMDRD451 | Serdemetan | 4 |
| iGMDRD780 | PP-30 | 2 |
| iGMDRD888 | Compound 44 | 3 |
| iGMDRD329 | Merck60 | 2 |
| iGMDRD74 | Idarubicin | 3 |
| iGMDRD887 | Compound 23 citrate | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SKIL
CLASSFICATION
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