title: The neurofibromatosis type 1 gene encodes a protein related to GAP.
abstract: cDNA walking and sequencing have extended the open reading frame for the neurofibromatosis type 1 gene (NF1). The new sequence now predicts 2485 amino acids of the NF1 peptide. A 360 residue region of the new peptide shows significant similarity to the known catalytic domains of both human and bovine GAP (GTPase activating protein). A much broader region, centered around this same 360 amino acid sequence, is strikingly similar to the yeast IRA1 product, which has a similar amino acid sequence and functional homology to mammalian GAP. This evidence suggests that NF1 encodes a cytoplasmic GAP-like protein that may be involved in the control of cell growth by interacting with proteins such as the RAS gene product. Mapping of the cDNA clones has confirmed that NF1 spans a t(1;17) translocation mutation and that three active genes lie within an intron of NF1, but in opposite orientation.
authors.affiliation: Department of Human Genetics, University of Utah School of Medicine, Salt Lake City 84132.
authors.forename: G F
authors.initials: GF
authors.lastname: Xu
authors.forename: P
authors.initials: P
authors.lastname: O'Connell
authors.forename: D
authors.initials: D
authors.lastname: Viskochil
authors.forename: R
authors.initials: R
authors.lastname: Cawthon
authors.forename: M
authors.initials: M
authors.lastname: Robertson
authors.forename: M
authors.initials: M
authors.lastname: Culver
authors.forename: D
authors.initials: D
authors.lastname: Dunn
authors.forename: J
authors.initials: J
authors.lastname: Stevens
authors.forename: R
authors.initials: R
authors.lastname: Gesteland
authors.forename: R
authors.initials: R
authors.lastname: White
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002417:Cattle; D002878:Chromosomes, Human, Pair 1; D002886:Chromosomes, Human, Pair 17; D003001:Cloning, Molecular; D020690:GTPase-Activating Proteins; D015723:Gene Library; D005796:Genes; D006801:Humans; D007256:Information Systems; D008969:Molecular Sequence Data; D009456:Neurofibromatosis 1 / Q000235:genetics*; D025542:Neurofibromin 1; D015345:Oligonucleotide Probes; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D012689:Sequence Homology, Nucleic Acid; D014178:Translocation, Genetic; D020703:ras GTPase-Activating Proteins
chemical_list: D020690:GTPase-Activating Proteins; D025542:Neurofibromin 1; D015345:Oligonucleotide Probes; D011506:Proteins; D020703:ras GTPase-Activating Proteins