neurofibromatosis type 1 [NF1] protein or neurofibromin
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Function
- homologous to ras GAP [suggested to modulate ras GAP] activity
- stimulates the GTPase activity of Ras
- NF1 shows greater affinity for Ras GAP, but lower specific activity
- may be a regulator of Ras activity
Structure
- contains 1 CRAL-TRIO domain
- contains 1 Ras-GAP domain
- homologous to ras GAP
- may be mammalian homolog of yeast Ira-protein
Alternative splicing
named isoforms=4
RNA editing
- modified_positions=1306
- stop codon (UGA) at position 1306 is created by RNA editing
- various levels of RNA editing occurs in peripheral nerve-sheath tumor samples
- preferentially observed in transcripts containing exon 23A
Pathology
- defects in NF1 are the cause of
Notes
- originally thought to be associated with LEOPARD, an autosomal dominant syndrome
More general terms
Additional terms
References
- ↑ Bourne HR et al, The GTPase superfamily: a conserved switch for diverse cell functions Nature 348:125 1990 PMID: https://www.ncbi.nlm.nih.gov/pubmed/2122258
- ↑ Boguski MS & McCormick F Proteins regulating Ras and its relative. Nature 366:643 1993 PMID: https://www.ncbi.nlm.nih.gov/pubmed/8259209
- ↑ Nordlund et al J Neuroscience 13(4):1588 1993
- ↑ NF1 genetic mutation analysis consortium http://www.upmc.edu/neurofibro/NNFFconsortium.htm
- ↑ Atlas of genetics & cytogenetics in oncology & Haematology http://atlasgeneticsoncology.org/genes/NF1ID134.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=NF
- ↑ UniProt http://www.uniprot.org/uniprot/P21359.html
Database
- UniProt: http://www.uniprot.org/uniprot/P21359.html
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:4763
- OMIM: https://mirror.omim.org/entry/114500
- OMIM: https://mirror.omim.org/entry/162200
- OMIM: https://mirror.omim.org/entry/162210
- OMIM: https://mirror.omim.org/entry/193520
- OMIM: https://mirror.omim.org/entry/601321
- OMIM: https://mirror.omim.org/entry/607785
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4763