RRAGA

Chr 9

Ras related GTP binding A

Also known as: FIP-1, FIP1, RAGA

NCBI Gene: 10670 ENSG00000155876 UniProt: Q7L523 OMIM: 612194

The protein is a guanine nucleotide-binding protein that regulates mTORC1 signaling in response to amino acid availability by forming heterodimeric complexes at the lysosome and recruiting mTORC1 for activation. Mutations in this gene cause autosomal recessive epileptic encephalopathy and neurodevelopmental disorders with early infantile onset. The gene shows moderate constraint to loss-of-function variants, and affected children typically present with seizures, developmental delays, and neurological regression in the first months of life.

OMIM ResearchSummary from RefSeq, UniProt

Enables several functions, including GTP binding activity; protein dimerization activity; and ubiquitin protein ligase binding activity. Involved in several processes, including cellular response to amino acid starvation; positive regulation of TORC1 signaling; and tumor necrosis factor-mediated signaling pathway. Located in GATOR1 complex; lysosome; and nucleoplasm. Part of FNIP-folliculin RagC/D GAP. Is active in lysosomal membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)