≡

Neurofibromin 1 (NF1)

[Edit]

NFNS; VRNF; WSS; Neurofibromatosis; Von Recklinghausen disease; Watson disease; Neurofibromatosis-related protein NF-1; Neurofibromin truncated

Neurofibromin 1 (NF1)
CCC C674
HGNC 7765
MGI 97306
PubMed 9668168
RGD 3168
UniProt P21359
Wiki NF1
The neurofibromin 1 protein is associated with neurofibromatosis type I (neurofibromatosis, von Recklinghausen disease, Watson disease), also known as NF1. Mutations linked to neurofibromatosis type 1 led to the identification of NF1.
NF1 encodes the protein neurofibromin, which appears to be a negative regulator of the ras signal transduction pathway. In addition to type 1 neurofibromatosis, mutations in NF1 can also lead to juvenile myelomonocytic leukemia. Although alternatively-spliced NF1 mRNA transcripts have been isolated, their functional differences, if any, remain unclear.Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Neurofibromin 1 (NF1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Neurofibromin 1 (NF1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Neurofibromin 1 (NF1) Polyclonal Antibody Customized Service Offer
Assay Kits SEC674Hu ELISA Kit for Neurofibromin 1 (NF1) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Neurofibromin 1 (NF1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Neurofibromin 1 (NF1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Neurofibromin 1 (NF1) Polyclonal Antibody Customized Service Offer
Assay Kits SEC674Mu ELISA Kit for Neurofibromin 1 (NF1) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Neurofibromin 1 (NF1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Neurofibromin 1 (NF1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Neurofibromin 1 (NF1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Neurofibromin 1 (NF1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Neurofibromin 1 (NF1) ELISA Kit Customized Service Offer
  1. "Complete human NF1 cDNA sequence: two alternatively spliced mRNAs and absence of expression in a neuroblastoma line."DNA Cell Biol. 11:727-734(1992) [PubMed] [Europe PMC] [Abstract]
  2. "Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients."Science 249:181-186(1990) [PubMed] [Europe PMC] [Abstract]
  3. ErratumScience 250:1749-1749(1990) [PubMed] [Europe PMC] [Abstract]
  4. "cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product."Genomics 11:931-940(1991) [PubMed] [Europe PMC] [Abstract]
  5. "Molecular cloning of a cDNA coding for neurofibromatosis type 1 protein isoform lacking the domain related to ras GTPase-activating protein."Biochem. Biophys. Res. Commun. 187:984-990(1992) [PubMed] [Europe PMC] [Abstract]
  6. "Evidence for the presence of two amino-terminal isoforms of neurofibromin, a gene product responsible for neurofibromatosis type 1."Tohoku J. Exp. Med. 175:225-233(1995) [PubMed] [Europe PMC] [Abstract]
  7. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
  8. "A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations."Cell 62:193-201(1990) [PubMed] [Europe PMC] [Abstract]
  9. "The neurofibromatosis type 1 gene encodes a protein related to GAP."Cell 62:599-608(1990) [PubMed] [Europe PMC] [Abstract]
  10. "Emergence and scattering of multiple neurofibromatosis (NF1)-related sequences during hominoid evolution suggest a process of pericentromeric interchromosomal transposition."Hum. Mol. Genet. 6:9-16(1997) [PubMed] [Europe PMC] [Abstract]
  11. "Genomic organization of the neurofibromatosis 1 gene (NF1)."Genomics 25:9-18(1995) [PubMed] [Europe PMC] [Abstract]
  12. "The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21."Cell 63:843-849(1990) [PubMed] [Europe PMC] [Abstract]
  13. "Differential expression of two types of the neurofibromatosis type 1 (NF1) gene transcripts related to neuronal differentiation."Oncogene 6:1555-1559(1991) [PubMed] [Europe PMC] [Abstract]
  14. "A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity."Mol. Cell. Biol. 13:487-495(1993) [PubMed] [Europe PMC] [Abstract]
  15. "Brain tumors predominantly express the neurofibromatosis type 1 gene transcripts containing the 63 base insert in the region coding for GTPase activating protein-related domain."Biochem. Biophys. Res. Commun. 181:955-961(1991) [PubMed] [Europe PMC] [Abstract]
  16. "The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins."Cell 63:851-859(1990) [PubMed] [Europe PMC] [Abstract]
  17. "The neurofibromatosis type I messenger RNA undergoes base-modification RNA editing."Nucleic Acids Res. 24:478-485(1996) [PubMed] [Europe PMC] [Abstract]
  18. "C-->U editing of neurofibromatosis 1 mRNA occurs in tumors that express both the type II transcript and apobec-1, the catalytic subunit of the apolipoprotein B mRNA-editing enzyme."Am. J. Hum. Genet. 70:38-50(2002) [PubMed] [Europe PMC] [Abstract]
  19. "Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene."Hum. Mutat. 4:83-101(1994) [PubMed] [Europe PMC] [Abstract]
  20. "Molecular genetics of neurofibromatosis type 1 (NF1)."J. Med. Genet. 33:2-17(1996) [PubMed] [Europe PMC] [Abstract]
  21. "Neurofibromin is actively transported to the nucleus."FEBS Lett. 560:98-102(2004) [PubMed] [Europe PMC] [Abstract]
  22. "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
  23. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
  24. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  25. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
  26. "Large-scale proteomics analysis of the human kinome."Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract]
  27. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
  28. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  29. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  30. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
  31. "5-HT(6) receptor recruitment of mTOR as a mechanism for perturbed cognition in schizophrenia."EMBO Mol. Med. 4:1043-1056(2012) [PubMed] [Europe PMC] [Abstract]
  32. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  33. "Structural analysis of the GAP-related domain from neurofibromin and its implications."EMBO J. 17:4313-4327(1998) [PubMed] [Europe PMC] [Abstract]
  34. "A novel bipartite phospholipid-binding module in the neurofibromatosis type 1 protein."EMBO Rep. 7:174-179(2006) [PubMed] [Europe PMC] [Abstract]
  35. "The sec14 homology module of neurofibromin binds cellular glycerophospholipids: mass spectrometry and structure of a lipid complex."J. Mol. Biol. 366:551-562(2007) [PubMed] [Europe PMC] [Abstract]
  36. "Structural and biochemical consequences of NF1 associated nontruncating mutations in the Sec14-PH module of neurofibromin."Hum. Mutat. 32:191-197(2011) [PubMed] [Europe PMC] [Abstract]
  37. "Somatic mutations in the neurofibromatosis 1 gene in human tumors."Cell 69:275-281(1992) [PubMed] [Europe PMC] [Abstract]
  38. "Analysis of mutations at the neurofibromatosis 1 (NF1) locus."Hum. Mol. Genet. 1:735-740(1992) [PubMed] [Europe PMC] [Abstract]
  39. "Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome."Am. J. Hum. Genet. 53:90-95(1993) [PubMed] [Europe PMC] [Abstract]
  40. "Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels."Hum. Mol. Genet. 2:1861-1864(1993) [PubMed] [Europe PMC] [Abstract]
  41. "Characterisation of inherited and sporadic mutations in neurofibromatosis type-1."Hum. Mol. Genet. 3:1109-1115(1994) [PubMed] [Europe PMC] [Abstract]
  42. "Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene."Hum. Mutat. 3:347-352(1994) [PubMed] [Europe PMC] [Abstract]
  43. "Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene."J. Med. Genet. 32:706-710(1995) [PubMed] [Europe PMC] [Abstract]
  44. "Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: identification of three novel mutations and of two new polymorphisms."Hum. Genet. 97:492-495(1996) [PubMed] [Europe PMC] [Abstract]
  45. "Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome."Hum. Mutat. 8:51-56(1996) [PubMed] [Europe PMC] [Abstract]
  46. "Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene."Hum. Genet. 99:88-92(1997) [PubMed] [Europe PMC] [Abstract]
  47. "Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene."Hum. Genet. 99:674-676(1997) [PubMed] [Europe PMC] [Abstract]
  48. "Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene."Hum. Mutat. 9:366-367(1997) [PubMed] [Europe PMC] [Abstract]
  49. "Six novel mutations in the neurofibromatosis type 1 (NF1) gene."Hum. Mutat. 10:248-250(1997) [PubMed] [Europe PMC] [Abstract]
  50. "Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1 (NF1)."Hum. Mol. Genet. 7:1261-1268(1998) [PubMed] [Europe PMC] [Abstract]
  51. "Analysis of CpG C-to-T mutations in neurofibromatosis type 1."Hum. Mutat. 11:411-411(1998) [PubMed] [Europe PMC] [Abstract]
  52. "Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing."Genet. Med. 1:248-253(1999) [PubMed] [Europe PMC] [Abstract]
  53. "A novel mutation L1425P in the GAP-region of the NF1 gene detected by temperature gradient gel electrophoresis (TGGE)."Hum. Mutat. 13:337-337(1999) [PubMed] [Europe PMC] [Abstract]
  54. "Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain."Am. J. Hum. Genet. 66:790-818(2000) [PubMed] [Europe PMC] [Abstract]
  55. "Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1."Hum. Mol. Genet. 9:237-247(2000) [PubMed] [Europe PMC] [Abstract]
  56. ErratumHum. Mol. Genet. 9:659-659(2000)
  57. "NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1."Hum. Mutat. 16:274-275(2000) [PubMed] [Europe PMC] [Abstract]
  58. "Spinal neurofibromatosis without cafe-au-lait macules in two families with null mutations of the NF1 gene."Am. J. Hum. Genet. 69:1395-1400(2001) [PubMed] [Europe PMC] [Abstract]
  59. "Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 ( NF1) gene."Hum. Genet. 109:487-497(2001) [PubMed] [Europe PMC] [Abstract]
  60. "NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas."Hum. Mutat. 19:309-309(2002) [PubMed] [Europe PMC] [Abstract]
  61. "Different mutations in the NF1 gene are associated with neurofibromatosis-Noonan syndrome (NFNS)."Am. J. Med. Genet. A 119:1-8(2003) [PubMed] [Europe PMC] [Abstract]
  62. "Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type."Hum. Genet. 112:117-123(2003) [PubMed] [Europe PMC] [Abstract]
  63. "NF1 gene analysis based on DHPLC."Hum. Mutat. 21:171-172(2003) [PubMed] [Europe PMC] [Abstract]
  64. "NF1 mutations and clinical spectrum in patients with spinal neurofibromas."J. Med. Genet. 40:368-371(2003) [PubMed] [Europe PMC] [Abstract]
  65. "Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1."Hum. Mutat. 24:491-501(2004) [PubMed] [Europe PMC] [Abstract]
  66. "Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1."Hum. Mutat. 23:629-629(2004) [PubMed] [Europe PMC] [Abstract]
  67. "Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain."J. Med. Genet. 41:E48-E48(2004) [PubMed] [Europe PMC] [Abstract]
  68. "Neurofibromatous neuropathy in neurofibromatosis 1 (NF1)."J. Med. Genet. 41:837-841(2004) [PubMed] [Europe PMC] [Abstract]
  69. "Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient."Am. J. Med. Genet. A 136:242-245(2005) [PubMed] [Europe PMC] [Abstract]
  70. "NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome."Am. J. Hum. Genet. 77:1092-1101(2005) [PubMed] [Europe PMC] [Abstract]
  71. "The consensus coding sequences of human breast and colorectal cancers." Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
  72. "An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation." Am. J. Hum. Genet. 80:140-151(2007) [PubMed] [Europe PMC] [Abstract]
  73. "Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1."Clin. Genet. 76:524-534(2009) [PubMed] [Europe PMC] [Abstract]
  74. "Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas."Hered. Cancer Clin. Pract. 9:6-6(2011) [PubMed] [Europe PMC] [Abstract]
  75. "Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas."Eur. J. Hum. Genet. 20:411-419(2012) [PubMed] [Europe PMC] [Abstract]
  76. "Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients."Ann. Hum. Genet. 77:364-379(2013) [PubMed] [Europe PMC] [Abstract]
  77. "The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE."Childs Nerv. Syst. 30:1183-1189(2014) [PubMed] [Europe PMC] [Abstract]