RRAGB Gene - Ras-Related GTP Binding B
A key regulator of amino acid signaling and mTORC1 activation
Gene Information Card
| Symbol | RRAGB |
|---|---|
| Full Name | Ras-related GTP binding B |
| Gene Type | Protein coding |
| Chromosomal Location | Xp11.21 |
| NCBI Gene ID | 10325 ncbi.nlm.nih.gov/gene/10325 |
| Ensembl ID | ENSG00000101812 |
| UniProt ID | Q5VZM2 |
| OMIM ID | 300425 |
| HGNC ID | 16971 |
| Aliases | RagB, bA465L10.1 |
Description
RRAGB encodes a member of the Ras-related small GTPase family, specifically the Rag subfamily. This protein forms heterodimers with RRAGA, RRAGC, or RRAGD and is essential for amino acid-dependent activation of the mechanistic target of rapamycin complex 1 (mTORC1). RRAGB localizes to the lysosomal membrane and recruits mTORC1 in response to amino acid availability, thereby regulating cell growth, proliferation, and autophagy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of mTORC1 signaling via RRAGB mutations or overexpression | COSMIC, ClinVar |
| Intellectual disability (X-linked) | Loss-of-function mutations impairing amino acid sensing | OMIM #300425 |
| Epilepsy | Potential role in neuronal mTORC1 dysregulation | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 8.2 | Medium |
| Kidney | 6.8 | Low |
| Liver | 4.1 | Low |
| Heart | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| HeLa | 10.1 | Moderate expression |
| A549 | 7.8 | Low expression |
| K562 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437G>A (p.Arg146Gln) | Missense | 0.01% | Impaired GTP binding and mTORC1 activation |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression |
| c.769C>T (p.Arg257Trp) | Missense | 0.005% | Reduced interaction with RRAGC |
Mutation functional classification
Loss of Function (LOF)
Mutations that impair GTP binding or disrupt heterodimerization reduce mTORC1 activation, leading to growth defects.
Gain of Function (GOF)
Not well characterized; potential activating mutations may enhance mTORC1 signaling in cancer.
Dominant Negative (DN)
Some missense variants may act dominant-negatively by sequestering binding partners.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activity | • GTP binding |
| • lysosomal membrane | • mTORC1 signaling |
| • cellular response to amino acid stimulus | • positive regulation of TORC1 signaling |
Pathways
• mTOR signaling pathway (KEGG hsa04150)
• Amino acid sensing and mTORC1 activation (Reactome R-HSA-9639288)
• Regulation of autophagy (Reactome R-HSA-199992)
Protein Summary
RRAGB is a 374-amino acid protein with a molecular weight of approximately 42 kDa. It contains a Ras-like GTPase domain and a C-terminal domain required for heterodimerization. The protein cycles between GDP-bound (inactive) and GTP-bound (active) states, regulated by the Ragulator complex. Active RRAGB recruits mTORC1 to the lysosomal surface, enabling its activation by Rheb. Post-translational modifications include farnesylation at the C-terminus, which is critical for membrane localization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RRAGB Knockout HEK293 Cell Line | EDJ-KQ599 | Human | 10325 | Details Get a Quote |
| RRAGB Knockout A-549 Cell Line | EDJ-KQ20387 | Human | 10325 | Details Get a Quote |
| RRAGB Knockout HCT 116 Cell Line | EDJ-KQ20389 | Human | 10325 | Details Get a Quote |
| RRAGB Knockout HeLa Cell Line | EDJ-KQ20390 | Human | 10325 | Details Get a Quote |
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