RRAGC
entrez
64121
canonical
uniprot
Q9HB90
canonical
ensembl
ENSG00000116954
resolver
ensp
ENSP00000362092
resolver
ensp
ENSP00000535110
resolver
enst
ENST00000373001
resolver
genesymbol
RRAGC
resolver
hgnc
HGNC:19902
resolver
uniprot
B4DQ03
resolver
uniprot
B4DQG4
resolver
uniprot
Q9H202
resolver
uniprot
Q9H8Q8
resolver
uniprot_entry
B4DQ03_HUMAN
resolver
uniprot_entry
B4DQG4_HUMAN
resolver
uniprot_entry
RRAGC_HUMAN
resolver
uniprot_sec
Q9H202
resolver
uniprot_sec
Q9H8Q8
resolver
activity_regulation
ACTIVITY REGULATION: The activation of RagC/RRAGC is mediated by a GTPase activating protein (GAP) (PubMed:24095279). In high-amino acid conditions, activated by GTPase activating protein FLCN that stimulates RRAGC GTPase activity to turn it into its active GDP-bound form (PubMed:24095279). In response to amino acid depletion, the GATOR1 complex inactivates RagC/RRAGC by securing the GTP-bound inactive form (PubMed:35338845). {ECO:0000269|PubMed:24095279, ECO:0000269|PubMed:35338845}.
uniprot
proteins
amino_acid_sequence
MSLQYGAEETPLAGSYGAADSFPKDFGYGVEEEEEEAAAAGGGVGAGAGGGCGPGGADSSKPRILLMGLRRSGKSSIQKVVFHKMSPNETLFLESTNKIYKDDISNSSFVNFQIWDFPGQMDFFDPTFDYEMIFRGTGALIYVIDAQDDYMEALTRLHITVSKAYKVNPDMNFEVFIHKVDGLSDDHKIETQRDIHQRANDDLADAGLEKLHLSFYLTSIYDHSIFEAFSKVVQKLIPQLPTLENLLNIFISNSGIEKAFLFDVVSKIYIATDSSPVDMQSYELCCDMIDVVIDVSCIYGLKEDGSGSAYDKESMAIIKLNNTTVLYLKEVTKFLALVCILREESFERKGLIDYNFHCFRKAIHEVFEVGVTSHRSCGHQTSASSLKALTHNGTPRNAI
uniprot
proteins
disease_involvement
DISEASE: Long-Olsen-Distelmaier syndrome (LNGODS) [MIM:620609]: An autosomal dominant syndrome characterized by lethal dilated cardiomyopathy, bilateral cataracts, mild facial dysmorphisms, and liver dysfunction. Some patients have brain abnormalities, including pachygyria, polymicrogyria, and septo-optic dysplasia. Death occurs in infancy. {ECO:0000269|PubMed:26691987, ECO:0000269|PubMed:27234373, ECO:0000269|PubMed:34071043, ECO:0000269|PubMed:37057673}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=RRAGC mutations have been found in a patient with idiopathic dilated cardiomyopathy with ventricular dilation and systolic dysfunction, bilateral cataracts, and mild facial dysmorphisms. {ECO:0000269|PubMed:27234373}.
uniprot
proteins
ec_number
3.6.5.-
uniprot
proteins
function
FUNCTION: Guanine nucleotide-binding protein that plays a crucial role in the cellular response to amino acid availability through regulation of the mTORC1 signaling cascade (PubMed:20381137, PubMed:24095279, PubMed:27234373, PubMed:31601708, PubMed:31601764, PubMed:32612235, PubMed:34071043, PubMed:36697823, PubMed:37057673). Forms heterodimeric Rag complexes with RagA/RRAGA or RagB/RRAGB and cycles between an inactive GTP-bound and an active GDP-bound form: RagC/RRAGC is in its active form when GDP-bound RagC/RRAGC forms a complex with GTP-bound RagA/RRAGA (or RagB/RRAGB) and in an inactive form when GTP-bound RagC/RRAGC heterodimerizes with GDP-bound RagA/RRAGA (or RagB/RRAGB) (PubMed:24095279, PubMed:31601708, PubMed:31601764, PubMed:32868926). In its GDP-bound active form, promotes the recruitment of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB (PubMed:20381137, PubMed:24095279, PubMed:27234373, PubMed:32612235, PubMed:36697823). This is a crucial step in the activation of the MTOR signaling cascade by amino acids (PubMed:20381137, PubMed:24095279, PubMed:27234373). Also plays a central role in the non-canonical mTORC1 complex, which acts independently of RHEB and specifically mediates phosphorylation of MiT/TFE factors TFEB and TFE3: GDP-bound RagC/RRAGC mediates recruitment of MiT/TFE factors TFEB and TFE3 (PubMed:32612235, PubMed:36697823). {ECO:0000269|PubMed:20381137, ECO:0000269|PubMed:24095279, ECO:0000269|PubMed:27234373, ECO:0000269|PubMed:31601708, ECO:0000269|PubMed:31601764, ECO:0000269|PubMed:32612235, ECO:0000269|PubMed:32868926, ECO:0000269|PubMed:34071043, ECO:0000269|PubMed:36697823, ECO:0000269|PubMed:37057673}.
uniprot
proteins
mass_dalton
44224
uniprot
proteins
mutagenesis
MUTAGEN 75; /note="S->L: Constitutively active mutant. Increased RPTOR-binding."; /evidence="ECO:0000269|PubMed:18497260, ECO:0000269|PubMed:32612235"; MUTAGEN 92; /note="F->A: Promotes interaction with GATOR1 in the GAP mode."; /evidence="ECO:0000269|PubMed:35338845"; MUTAGEN 120; /note="Q->L: Maintains GTP-bound state, leading to inactivate mTORC1. Decreased RPTOR-binding."; /evidence="ECO:0000269|PubMed:18497260, ECO:0000269|PubMed:24095279, ECO:0000269|PubMed:28935770, ECO:0000269|PubMed:32612235
uniprot
proteins
protein_family
GTR/RAG GTP-binding protein family
uniprot
proteins
pubmed
11073942
uniprot
proteins
pubmed
11145883
uniprot
proteins
pubmed
14660641
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
18497260
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20381137
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22575674
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24095279
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25259925
uniprot
proteins
pubmed
25561175
uniprot
proteins
pubmed
25567906
uniprot
proteins
pubmed
26691987
uniprot
proteins
pubmed
27234373
uniprot
proteins
pubmed
28935770
uniprot
proteins
pubmed
29590090
uniprot
proteins
pubmed
31601708
uniprot
proteins
pubmed
31601764
uniprot
proteins
pubmed
31672913
uniprot
proteins
pubmed
31704029
uniprot
proteins
pubmed
32612235
uniprot
proteins
pubmed
32868926
uniprot
proteins
pubmed
34071043
uniprot
proteins
pubmed
35338845
uniprot
proteins
pubmed
36103527
uniprot
proteins
pubmed
36697823
uniprot
proteins
pubmed
37057673
uniprot
proteins
sequence_length
399
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11073942}. Nucleus {ECO:0000269|PubMed:11073942}. Lysosome membrane {ECO:0000269|PubMed:20381137, ECO:0000269|PubMed:28935770}. Note=Predominantly cytoplasmic (PubMed:11073942). Recruited to the lysosome surface by the Ragulator complex (PubMed:20381137, PubMed:28935770). May shuttle between the cytoplasm and nucleus, depending on the bound nucleotide state of associated RRAGA (PubMed:11073942). {ECO:0000269|PubMed:11073942, ECO:0000269|PubMed:20381137, ECO:0000269|PubMed:28935770}.
uniprot
proteins