neurofibromin 1

Summary
Gene Symbol
  • NF1
Organism
Homo sapiens (human)
NCBI Gene
4763
PubChem
4763
Alliance of Genome Resources
JoGo
NF1
TogoVar
NF1
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Cell membrane
  • Disease variant
  • GTPase activation
  • Lipid-binding
  • Nucleus
  • Phosphoprotein
  • Proteomics identification
  • RNA editing
  • Reference proteome
  • Tumor suppressor
  • Ubl conjugation
Proteins
Displaying 1 entry
UniProt Protein Name
P21359
  • Neurofibromatosis-related protein NF-1
Gene Ontology (GO)
Displaying entries 1 - 5 of 101 in total
GO Term Evidence Code PMID
MAPK cascade
angiogenesis
osteoblast differentiation
metanephros development
response to hypoxia
GO Hierarchy
Disease
Disease Ontology
Displaying all 10 entries
DO ID Disease Name Source
DOID:0050458 juvenile myelomonocytic leukemia
DOID:0070482 spinal neurofibromatosis
DOID:0070483 Watson syndrome
DOID:0111253 neurofibromatosis 1
DOID:0111683 neurofibromatosis-Noonan syndrome
DOID:12849 autistic disorder
DOID:3070 high grade glioma
DOID:4992 optic nerve glioma
DOID:5151 plexiform neurofibroma
DOID:9119 acute myeloid leukemia

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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