D
IPR054071

Neurofibromin, PH domain-like

InterPro entry
Short namePH_NF1
Overlapping
homologous
superfamilies
 

Description

This entry represents the pleckstrin homology (PH)-like domain of neurofibromin (NF1) and similar sequences from animals and fungi. Neurofibromin is a Ras-specific GTPase-activating protein (RasGAP). Mutations in the gene encoding this protein cause neurofibromatosis type 1 (NF1). This domain forms a bipartite module with the Sec14p homologous segment, which together exhibit phospholipid binding activity. The domain interface architecture suggests a model of how the NF1 PH domain may regulate binding of a ligand by the Sec14 module
[1, 2, 3]
.

References

1.A novel bipartite phospholipid-binding module in the neurofibromatosis type 1 protein. D'Angelo I, Welti S, Bonneau F, Scheffzek K. EMBO Rep. 7, 174-9, (2006). View articlePMID: 16397625

2.The structure of neurofibromin isoform 2 reveals different functional states. Naschberger A, Baradaran R, Rupp B, Carroni M. Nature 599, 315-319, (2021). View articlePMID: 34707296

3.Structural and biochemical consequences of NF1 associated nontruncating mutations in the Sec14-PH module of neurofibromin. Welti S, Kuhn S, D'Angelo I, Brugger B, Kaufmann D, Scheffzek K. Hum Mutat 32, 191-7, (2011). PMID: 21089070

Further reading

4. The sec14 homology module of neurofibromin binds cellular glycerophospholipids: mass spectrometry and structure of a lipid complex. Welti S, Fraterman S, D'Angelo I, Wilm M, Scheffzek K. J. Mol. Biol. 366, 551-62, (2007). View articlePMID: 17187824

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