Search

Search for a specific protein in the Platelet Interactome


(Example: vasp)

 

Advanced Search

Get detailed protein information focusing on various characteristics and extract interaction networks

 

Legend

 

About

Go Back

Description for Protein NF1

neurofibromin 1
8 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • RASGAP: GTPase-activator protein for Ras-like GTPases
  • SEC14: Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K08052
    KEGG - Pathway(s):
    hsa04010
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Neurofibromin isoform 2; Neurofibromin isoform 1; NF-1; Neurofibromin 1; Neurofibromatosis related protein NF-1; Neurofibromin
    Approved Symbol:
    NF1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 54
    Human (de-) phosphorylation sites: 54; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Leukemia, juvenile myelomonocytic(Pd);
  • Neurofibromatosis, familial spinal(Pd);
  • Neurofibromatosis, type I(Pd);
  • Neurofibromatosis-noonan syndrome(Pd);
  • Pseudarthrosis, tibial, in neurofibromatosis(Pd);
  • Watson syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01203 Entrez Gene ID: 4763 OMIM ID: 613113 Swissprot Accession: Q14931; P21359;