NF1, neurofibromin 1

NF1, neurofibromin 1

• 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, Jul 2008]

• Gene Synonyms (NFNS, VRNF, WSS, neurofibromin, neurofibromatosis 1, neurofibromatosis-related protein NF-1, truncated neurofibromin 1,)
• NCBI Gene ID: 4763
• Species: Homo sapiens (Human)
• UNIPROT ID#>>P21359
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

neurofibromin 1 interacts with:

• ankyrin repeat domain 34A
  ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
  calmodulin regulated spectrin associated protein family member 2
  carbonic anhydrase 14
  CD274 molecule
  chibby family member 1, beta catenin antagonist
  cingulin
  coiled-coil domain containing 8
  CTD phosphatase subunit 1
  cyclin dependent kinase 16
  DENN domain containing 1A
  DENN domain containing 4A
  DENN domain containing 4C
  DNA topoisomerase I
  DNA topoisomerase II alpha
  DNA topoisomerase III alpha
  DnaJ heat shock protein family (Hsp40) member C7
  doublecortin like kinase 1
  eukaryotic translation initiation factor 4E family member 2
  family with sequence similarity 110 member B
  family with sequence similarity 174 member A
  family with sequence similarity 53 member C
  Fas associated factor family member 2
  GRB10 interacting GYF protein 1
  GRB10 interacting GYF protein 2
  GRB2 associated binding protein 2
  histone deacetylase 4
  inositol polyphosphate-5-phosphatase E
  kinase suppressor of ras 1
  kinesin family member 13B
  kinesin family member 1C
  leucine rich repeat and fibronectin type III domain containing 1
  leucine zipper like transcription regulator 1
  LIM domain and actin binding 1
  lipin 3
  MAPK associated protein 1
  membrane associated guanylate kinase, WW and PDZ domain containing 1
  microtubule associated serine/threonine kinase 3
  mitogen-activated protein kinase kinase 3
  mitogen-activated protein kinase kinase kinase 21
  NAD kinase
  neuron navigator 1
  nitric oxide synthase interacting protein
  NRAS proto-oncogene, GTPase
  NSFL1 cofactor
  nuclear RNA export factor 1
  oxysterol binding protein like 6
  phosphatase and tensin homolog
  pleckstrin homology domain containing A7
  pleckstrin homology like domain family B member 2
  PML nuclear body scaffold
  potassium channel tetramerization domain containing 3
  prolyl 4-hydroxylase subunit alpha 3
  protein phosphatase, Mg2+/Mn2+ dependent 1H
  protein tyrosine phosphatase non-receptor type 13
  protein tyrosine phosphatase non-receptor type 14
  Raf-1 proto-oncogene, serine/threonine kinase
  Ral GEF with PH domain and SH3 binding motif 2
  RAS protein activator like 2
  rhotekin
  RNA polymerase II subunit A
  serine and arginine rich splicing factor 12
  SH3 and PX domains 2A
  SH3 domain containing ring finger 3
  SIGLEC family like 1
  signal induced proliferation associated 1 like 1
  signaling lymphocytic activation molecule family member 1
  sirtuin 7
  SLIT-ROBO Rho GTPase activating protein 2
  sodium voltage-gated channel beta subunit 3
  sprouty related EVH1 domain containing 1
  SRY-box transcription factor 4
  StAR related lipid transfer domain containing 13
  SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
  synapse defective Rho GTPase homolog 1
  syndecan 2
  TATA-box binding protein like 1
  testis associated actin remodelling kinase 2
  tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2
  TIAM Rac1 associated GEF 1
  TIR domain containing adaptor protein
  TNF receptor associated factor 6
  TNF superfamily member 13b
  trans-golgi network protein 2
  tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta
  tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta
  ubiquitin specific peptidase 21
  valosin containing protein
  vir like m6A methyltransferase associated
  V-set and immunoglobulin domain containing 1
  V-set and immunoglobulin domain containing 4
  zinc finger and BTB domain containing 21
  zinc finger containing ubiquitin peptidase 1
  zinc finger protein 638

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.