title: The N-terminal splice product NF1-10a-2 of the NF1 gene codes for a transmembrane segment.
abstract: One important function of the neurofibromatosis type 1 (NF1) product neurofibromin is the negative regulation of Ras activity on the cell membrane. Here, we describe an alternative splice product of the N-terminus of the NF1 gene. In this splice product, termed NF1-10a-2, the 45 bp exon 10a-2 is inserted between exons 10a and 10b. Amino acid sequence analysis for motifs showed that the new splice product contains a transmembrane segment not found in wild-type neurofibromin. The overall expression was found to be very low in comparison to the expression of the wild-type mRNA in all human primary and tumor cells examined. Because transcripts were found in the majority of human tissues examined, we assume a housekeeping function of this splice product. Investigation of the intracellular localization of an NF1-10a-2-EGFP fusion protein in HeLa cells revealed a preferential localization in perinuclear granular structures. We therefore assume that NF1-10a-2 has a function on an intracellular membrane.
authors.affiliation: Department of Human Genetics, University of Ulm, Albert-Einstein-Alle 11, Ulm D 89070, Germany. dieter.kaufmann@medizin.uni-ulm.de
authors.forename: Dieter
authors.initials: D
authors.lastname: Kaufmann
authors.forename: Ralf
authors.initials: R
authors.lastname: Müller
authors.forename: Oliver
authors.initials: O
authors.lastname: Kenner
authors.forename: Werner
authors.initials: W
authors.lastname: Leistner
authors.forename: Christian
authors.initials: C
authors.lastname: Hein
authors.forename: Walther
authors.initials: W
authors.lastname: Vogel
authors.forename: Britta
authors.initials: B
authors.lastname: Bartelt
mesh_terms: D017398:Alternative Splicing / Q000235:genetics*; D020816:Amino Acid Motifs / Q000502:physiology; D000595:Amino Acid Sequence; D001483:Base Sequence; D002462:Cell Membrane / Q000378:metabolism*; D002467:Cell Nucleus / Q000378:metabolism; D002478:Cells, Cultured; D005091:Exons / Q000235:genetics; D006801:Humans; D008164:Luminescent Proteins / Q000235:genetics; D008969:Molecular Sequence Data; D009456:Neurofibromatosis 1 / Q000235:genetics* / Q000378:metabolism; D009928:Organ Specificity; D020033:Protein Isoforms / Q000096:biosynthesis / Q000235:genetics; D017433:Protein Structure, Secondary; D012333:RNA, Messenger / Q000096:biosynthesis; D011993:Recombinant Fusion Proteins / Q000096:biosynthesis / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D020539:Sequence Analysis, Protein; D014162:Transfection; D014407:Tumor Cells, Cultured
chemical_list: D008164:Luminescent Proteins; D020033:Protein Isoforms; D012333:RNA, Messenger; D011993:Recombinant Fusion Proteins