RRAGD
entrez
58528
canonical
uniprot
Q9NQL2
canonical
ensembl
ENSG00000025039
resolver
ensp
ENSP00000358423
resolver
genesymbol
RRAGD
resolver
hgnc
HGNC:19903
resolver
uniprot
A8K184
resolver
uniprot
Q7L8F9
resolver
uniprot
Q9NPG0
resolver
uniprot_entry
RRAGD_HUMAN
resolver
uniprot_sec
A8K184
resolver
uniprot_sec
Q7L8F9
resolver
uniprot_sec
Q9NPG0
resolver
activity_regulation
ACTIVITY REGULATION: The activation of RagD/RRAGD is mediated by a GTPase activating protein (GAP) (PubMed:24095279). In high-amino acid conditions, activated by GTPase activating protein FLCN that stimulates RRAGD 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 (By similarity). {ECO:0000250|UniProtKB:Q9HB90, ECO:0000269|PubMed:24095279}.
uniprot
proteins
amino_acid_sequence
MSQVLGKPQPQDEDDAEEEEEEDELVGLADYGDGPDSSDADPDSGTEEGVLDFSDPFSTEVKPRILLMGLRRSGKSSIQKVVFHKMSPNETLFLESTNKICREDVSNSSFVNFQIWDFPGQIDFFDPTFDYEMIFRGTGALIFVIDSQDDYMEALARLHLTVTRAYKVNTDINFEVFIHKVDGLSDDHKIETQRDIHQRANDDLADAGLEKIHLSFYLTSIYDHSIFEAFSKVVQKLIPQLPTLENLLNIFISNSGIEKAFLFDVVSKIYIATDSTPVDMQTYELCCDMIDVVIDISCIYGLKEDGAGTPYDKESTAIIKLNNTTVLYLKEVTKFLALVCFVREESFERKGLIDYNFHCFRKAIHEVFEVRMKVVKSRKVQNRLQKKKRATPNGTPRVLL
uniprot
proteins
disease_involvement
DISEASE: Hypomagnesemia 7, renal, with or without dilated cardiomyopathy (HOMG7) [MIM:620152]: An autosomal dominant renal disease characterized by hypomagnesemia, hypokalemia, salt wasting, and nephrocalcinosis. A subset of patients develop severe dilated cardiomyopathy. {ECO:0000269|PubMed:18497260, ECO:0000269|PubMed:34607910}. Note=The disease is caused by variants affecting the gene represented in this entry.
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:34607910). Forms heterodimeric Rag complexes with RagA/RRAGA or RagB/RRAGB and cycles between an inactive GTP-bound and an active GDP-bound form: RagD/RRAGD is in its active form when GDP-bound RagD/RRAGD forms a complex with GTP-bound RagA/RRAGA (or RagB/RRAGB) and in an inactive form when GTP-bound RagD/RRAGD heterodimerizes with GDP-bound RagA/RRAGA (or RagB/RRAGB) (PubMed:24095279). In its active form, promotes the recruitment of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB (PubMed:20381137, PubMed:24095279). This is a crucial step in the activation of the MTOR signaling cascade by amino acids (PubMed:20381137, PubMed:24095279). 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 RagD/RRAGD mediates recruitment of MiT/TFE factors TFEB and TFE3 (PubMed:32612235). {ECO:0000269|PubMed:20381137, ECO:0000269|PubMed:24095279, ECO:0000269|PubMed:32612235, ECO:0000269|PubMed:34607910}.
uniprot
proteins
mass_dalton
45588
uniprot
proteins
mutagenesis
MUTAGEN 121; /note="Q->L: Decreased RPTOR-binding."; /evidence="ECO:0000269|PubMed:18497260
uniprot
proteins
protein_family
GTR/RAG GTP-binding protein family
uniprot
proteins
pubmed
11073942
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14660641
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18497260
uniprot
proteins
pubmed
20381137
uniprot
proteins
pubmed
22575674
uniprot
proteins
pubmed
24095279
uniprot
proteins
pubmed
25259925
uniprot
proteins
pubmed
25561175
uniprot
proteins
pubmed
25567906
uniprot
proteins
pubmed
32612235
uniprot
proteins
pubmed
34607910
uniprot
proteins
sequence_length
400
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11073942}. Nucleus {ECO:0000269|PubMed:11073942}. Lysosome membrane {ECO:0000269|PubMed:20381137}. Note=Predominantly cytoplasmic (PubMed:11073942). Recruited to the lysosome surface by the Ragulator complex (PubMed:20381137). 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}.
uniprot
proteins