Nf1 - neurofibromin 1 Gene
Also Known as Dsk9; Nf-1; Mhdadsk9; E030030H24Rik
Species: Mus musculus
Summary
Enables GTPase activator activity. Involved in negative regulation of fibroblast proliferation. Acts upstream of or within several processes, including animal organ development; modulation of chemical synaptic transmission; and nervous system development. Located in cytoplasm. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; heart; and integumental system. Used to study juvenile myelomonocytic leukemia and neurofibromatosis. Human ortholog(s) of this gene implicated in autistic disorder; hematologic Cancer (multiple); nervous system Cancer (multiple); neurofibromatosis 1; and neurofibromatosis-Noonan syndrome. Orthologous to human NF1 (neurofibromin 1). [provided by Alliance of Genome Resources, Apr 2022]
Nf1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_010897.2 | NP_035027.1 | neurofibromin |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables GTPase activator activity |
IGI
IGI: Inferred from genetic interaction
|
15665300 | MGI |
| enables GTPase activator activity |
IMP
IMP: Inferred from mutant phenotype
|
8563750 | MGI |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
16405917 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
15133494 | MGI |
| is active in glutamatergic synapse |
IDA
IDA: Inferred from direct assay
|
22105171 | MGI |
| is active in glutamatergic synapse |
IMP
IMP: Inferred from mutant phenotype
|
22105171 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
neurofibromin |
|