EDK
Editome Disease Knowledgebase
GLI1
| Gene symbol | GLI1 |
|---|---|
| Aliases | - |
| Protein Name | Zinc finger protein GLI1 |
| Function | This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein are negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. |
| Species | Human |
| Editing Sites | 1 |
| Disease | Multiple Myeloma; |
| Description | ADAR1 enhances Alu dependent editing and transcriptional activity of GLI1, Notably, GLI1 transcript editing rates were significantly higher in relapsed multiple myeloma than age-matched controls |
| RADR | RADAR |
| REDIportal | REDI portal |
| External links | P08151(Uniport); NM_005269 (NM id); 2735 (NCBI gene id); GeneCard; GTEx |
| Sequence |
Editing sites
| Enzyme | Editing type | Region | AA Seq Position | NT Seq Position | Codon Change | Amino Acid Change | Molecular Consequence | Editing Level | Tissue | Editing Effect | Phenotype | Disease name | PMID |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
A-to-I | Exonic | 701 | 2181 | AGG->GGG | R->G | Nonsynonymous substitution | Present | Bone marrow; Peripheral blood | RNA editing enhances a Hedgehog (Hh) pathway transcriptional activator and self-renewal agonist, and promotes immunomodulatory drug resistance. | Increase RNA editing level in disease |