Description: Homo sapiens neurofibromin 1 (NF1), transcript variant 3, mRNA. RefSeq Summary (NM_001128147): This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr17:29,421,945-29,549,782 Size: 127,838 Total Exon Count: 15 Strand: + Coding Region Position: hg19 chr17:29,422,328-29,549,008 Size: 126,681 Coding Exon Count: 15
aberrant splicing Messiaen LM et al. 1999, Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing., Genetics in medicine. 1999 Sep-Oct;1(6):248-53.
[PubMed 11258625]
As exon 10b shows the highest mutation rate yet found in any of the 60 NF1 exons, it should be implemented with priority in mutation analysis.
autism Marui, T. et al. 2004, Association between the neurofibromatosis-1 (NF1) locus and autism in the Japanese population., American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Nov;131(1):43-7.
[PubMed 15389774]
This may suggest an involvement of the NF1 locus in susceptibility to autism, although further investigations are recommended.
intestinal neuronal dysplasia type B (IND B) Bahuau M et al. 2000, Tandem duplication within the neurofibromatosis type 1 gene (NF1) and reciprocal t(15;16)(q26.3;q12.1) translocation in familial association of NF1 with intestinal neuronal dysplasia type B (IND B), Journal of medical genetics. 2000 Feb;37(2):146-50.
[PubMed 10712107]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
ModBase Predicted Comparative 3D Structure on P21359-5
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.