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Protein / target

Neurofibromin

Encoded byNF1P21359Homo sapiensSwiss-Prot
UniProt: P21359Ensembl: ENSG00000196712HGNC: HGNC:7765NCBI Gene: 4763
Small-molecule tractable
Druggability
Structure with Ligand
2
Research papers

Protein at a glance

Biological role

Phosphatidylethanolamine binding

Strongest disease association

Neurofibromatosis 1

Via encoding gene NF1 · Genetic evidence · score 0.98

Research activity

Emerging research

2 papers · latest 2024

Derived from structured UniProt, Open Targets and literature data on this page.

Protein profile

UniProt 2026_02

Canonical identity and biological annotation from UniProt.

Function overview

Stimulates the GTPase activity of Ras.

View complete UniProt function annotation

Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity

Subcellular location

NucleusNucleus, nucleolusCell membrane
Domains and Gene Ontology detail (60)

Domains & features

Ras-GAPCRAL-TRIO

Gene Ontology

  • Caxon
  • Ccytoplasm
  • Ccytosol
  • Cdendrite
  • Cglutamatergic synapse
  • Cmembrane
  • Cnucleolus
  • Cnucleoplasm
  • Cnucleus
  • Cplasma membrane
  • FGTPase activator activity
  • Fphosphatidylcholine binding

2839 aa · 319 kDa · 6 isoforms

Biological roles

What this protein does, drawn together from its UniProt function, Gene Ontology terms and Reactome pathways.

Synaptic signallingGOCell migrationGOApoptosis & cell deathGO
View supporting evidence

Synaptic signalling

  • ·glutamatergic synapse
  • ·regulation of postsynapse organization

Cell migration

  • ·negative regulation of cell migration
  • ·regulation of blood vessel endothelial cell migration

Apoptosis & cell death

  • ·positive regulation of apoptotic process
  • ·positive regulation of neuron apoptotic process

Concepts derived from UniProt GO Reactome — each badge above shows which sources supported that role.

Translational evidence

Open Targets 26

Why this target matters therapeutically, strongest evidence first. Disease associations are gene-level (via the gene that encodes this protein) and open into the full confidence synthesis; the development universe, tractability and safety annotations are target-level, from Open Targets.

Strongest disease associations · via encoding gene NF1

Gene-level evidence surfaced through the gene NF1that encodes this protein — not a direct protein–disease relationship. Ranked by Forefront's causal-directness weighting, so genetically- and clinically-evidenced diseases lead over ones that merely share the literature.

Neurofibromatosis 1
0.99Well supported

Genetic evidence dominant · Open Targets 0.89

Neurofibrosarcoma
0.97Well supported

Genetic evidence dominant · Open Targets 0.69

View evidence synthesis (2)
Neurofibromatosis 1Well supported
0.99
agreement 0.89–1.00
Genetic54%Somatic mutation32%Animal model11%Literature4%Genetic literaturedup

Open Targets aggregate 0.89 · 4 independent evidence families · 1 not counted as duplicate

NeurofibrosarcomaWell supported
0.97
agreement 0.87–1.00
Genetic50%Somatic mutation21%Pathway21%Literature8%

Open Targets aggregate 0.69 · 4 independent evidence families

The evidence agreement range shows how closely the independent evidence families agree — it is not a statistical confidence interval, and nothing here is fitted to outcome data. Derived from Open Targets evidence types under Forefront weighting; the per-type scores above show the calculation.

Show all associations
Neurofibromatosis 10.89
Neurofibrosarcoma0.69

Tractability

Small molecules — Emerging

Feasibility evidence (structure with ligand and high-quality pocket) — no clinical-stage drug of this modality recorded.

Antibodies — Emerging

Feasibility evidence (uniprot loc high conf and go cc high conf) — no clinical-stage drug of this modality recorded.

Protein degraders — Emerging

Feasibility evidence (uniprot ubiquitination and database ubiquitination) — no clinical-stage drug of this modality recorded.

View underlying tractability evidence (8)
SM · Structure with LigandSM · High-Quality PocketAB · UniProt loc high confAB · GO CC high confAB · Human Protein Atlas locPR · UniProt UbiquitinationPR · Database UbiquitinationPR · Half-life Data

Raw Open Targets tractability assessment buckets, by modality.

Research activity

2 papers · to 2024

Papers linked directly to this protein. This is the protein's own literature — descriptor-derived papers are kept separate below.

Most cited

Comprehensive genomic characterization defines human glioblastoma genes and core pathways.6,016 cites

Nature · 2008

Nf1 mutation disrupts activity-dependent oligodendroglial plasticity and motor learning in mice.7 cites

Pan Y · Nature neuroscience · 2024

Recent

Nf1 mutation disrupts activity-dependent oligodendroglial plasticity and motor learning in mice.

Pan Y · Nature neuroscience · 2024

Comprehensive genomic characterization defines human glioblastoma genes and core pathways.

Nature · 2008

Europe PMC papers linked directly to this protein.