neurofibromin 1

Summary
Gene Symbol
  • NF1
Organism
Homo sapiens (human)
NCBI Gene
4763
PubChem
4763
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Cell membrane
  • Disease variant
  • GTPase activation
  • Lipid-binding
  • Nucleus
  • Phosphoprotein
  • 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
OrthoDB (Group)
Group level
Eukaryota
Group Name
GTPase
Functional Category
  • I: Lipid transport and metabolism
  • O: Posttranslational modification, protein turnover, chaperones
  • Q: Secondary metabolites biosynthesis, transport and catabolism
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

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.2.1

Last updated: April 7, 2025