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RAS signaling downstream of NF1 loss-of-function variants

Summary

Organism

Homo sapiens (human)

Reactome

R-HSA-6802953

PubChem

R-HSA-6802953

Description

NF1 is a RAS GAP that stimulates the intrinsic RAS GTPase activity, thereby shifting the RAS pathway towards the inactive state (reviewed in King et al, 2013). Loss-of-function mutations in NF1 have been identified both in germline diseases like neurofibromatosis 1 and in a range of sporadically occurring cancers. These mutations, which range from complete gene deletions to missense or frameshift mutations, generally decrease NF1 protein levels and abrogate RAS GAP activity in the cells, resulting in constitutive RAS pathway activation (reviewed in Maertens and Cichowski, 2014; Tidyman and Rauen, 2009; Ratner and Miller, 2015).

Click on a node on the pathway to see its details. Glycoproteins are marked with a glycoprotein icon in their name.

SPV: a JavaScript Signaling Pathway Visualizer, Bioinformatics, 2018

Displaying **all 4** entries
UniProt ID	Protein Name	Gene Symbol	Pathway Viewer
P01111	GTPase NRas	HRAS1 NRAS	view
P01112	GTPase HRas	HRAS HRAS1	view
P21359	Neurofibromin	NF1	view
Q7Z699	Sprouty-related, EVH1 domain-containing protein 1	SPRED1	view

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