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The N-terminal splice product NF1-10a-2 of the NF1 gene codes for a transmembrane segment

Item Type:Article
Title:The N-terminal splice product NF1-10a-2 of the NF1 gene codes for a transmembrane segment
Creators Name:Kaufmann, D. and Mueller, R. and Kenner, O. and Leistner, W. and Hein, C. and Vogel, W. and Bartelt, B.
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.
Keywords:NF1, Neurofibromatosis Type 1, Alternative Splice Product
Source:Biochemical and Biophysical Research Communications
ISSN:0006-291X
Publisher:Academic Press (U.S.A.)
Volume:294
Number:2
Page Range:496-503
Date:7 June 2002
Official Publication:https://doi.org/10.1016/S0006-291X(02)00501-6
PubMed:View item in PubMed

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