EDK
Editome Disease Knowledgebase
NF1
| Gene symbol | NF1 |
|---|---|
| Aliases | - |
| Protein Name | Neurofibromin (Neurofibromatosis-related protein |
| Function | NF1 stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity. |
| Species | Human |
| Editing Sites | 1 |
| Disease | Neurofibromatosis; |
| Description | Inappropriately high levels of NF1 mRNA editing does play a role in NF1 tumorigenesis and that editing may result in the functional equivalent of biallelic inactivation of the NF1 tumor suppressor |
| RADR | RADAR |
| REDIportal | REDI portal |
| External links | P21359(Uniport); NM_001042492 (NM id); 4763 (NCBI gene id); GeneCard; GTEx |
| Sequence |
Editing sites
| Enzyme | Editing type | Region | NT Seq Position | Codon Change | Amino Acid Change | Molecular Consequence | Editing Level | Tissue | Interaction | Editing Effect | Phenotype | Disease name | PMID |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
C-to-U | CDS | 3916 | CAT->UAT | H->* | Nonsynonymous substitution | Increased | Cerebral cortex | Act through the interaction of its GTPase-activating protein (GAP)-related domain (GRD) with the product of the ras protooncogene | Inappropriately high levels of NF1 mRNA editing play a role in NF1 tumorigenesis and that editing may result in the functional equivalent of biallelic inactivation of the NF1 tumor suppressor. | Increase RNA editing level in disease |