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  • Title: The N-terminal splice product NF1-10a-2 of the NF1 gene codes for a transmembrane segment.
    Author: Kaufmann D, Müller R, Kenner O, Leistner W, Hein C, Vogel W, Bartelt B.
    Journal: Biochem Biophys Res Commun; 2002 Jun 07; 294(2):496-503. PubMed ID: 12051738.
    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.
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