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Aliases for RRAGD Gene

Aliases for RRAGD Gene

  • Ras-Related GTP Binding D 2 3
  • RAGD 3 4
  • Rag D Protein 3
  • BA11D8.2.1 3
  • Rag D 4

External Ids for RRAGD Gene

Previous GeneCards Identifiers for RRAGD Gene

  • GC06M090024
  • GC06M090070
  • GC06M090073
  • GC06M090131
  • GC06M087291
  • GC06M090074

Summaries for RRAGD Gene

Entrez Gene Summary for RRAGD Gene

  • RRAGD is a monomeric guanine nucleotide-binding protein, or G protein. By binding GTP or GDP, small G proteins act as molecular switches in numerous cell processes and signaling pathways.[supplied by OMIM, Apr 2004]

GeneCards Summary for RRAGD Gene

RRAGD (Ras-Related GTP Binding D) is a Protein Coding gene. Diseases associated with RRAGD include omenn syndrome. Among its related pathways are Signaling by GPCR and mTOR signalling. GO annotations related to this gene include protein heterodimerization activity and GTPase activity. An important paralog of this gene is RRAGC.

UniProtKB/Swiss-Prot for RRAGD Gene

  • Guanine nucleotide-binding protein forming heterodimeric Rag complexes required for the amino acid-induced relocalization of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB. This is a crucial step in the activation of the TOR signaling cascade by amino acids.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RRAGD Gene

Genomics for RRAGD Gene

Regulatory Elements for RRAGD Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for RRAGD Gene

Chromosome:
6
Start:
89,364,616 bp from pter
End:
89,412,276 bp from pter
Size:
47,661 bases
Orientation:
Minus strand

Genomic View for RRAGD Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RRAGD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RRAGD Gene

Proteins for RRAGD Gene

  • Protein details for RRAGD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQL2-RRAGD_HUMAN
    Recommended name:
    Ras-related GTP-binding protein D
    Protein Accession:
    Q9NQL2
    Secondary Accessions:
    • A8K184
    • Q7L8F9
    • Q9NPG0

    Protein attributes for RRAGD Gene

    Size:
    400 amino acids
    Molecular mass:
    45588 Da
    Quaternary structure:
    • Forms a heterodimer with RRAGA in a sequence-independent manner and RRAGB. Heterodimerization stabilizes RRAG proteins. In complex with RRAGB, interacts with RPTOR; this interaction is particularly efficient with GTP-loaded RRAGB and GDP-loaded RRAGC. Interacts with NOL8. Interacts with SH3BP4; the interaction with this negative regulator is most probably direct, preferentially occurs with the inactive GDP-bound form of RRAGD and is negatively regulated by amino acids (PubMed:11073942, PubMed:14660641, PubMed:18497260, PubMed:22575674, Ref.11). The Rag heterodimer interacts with SLC38A9; the probable amino acid sensor (PubMed:25561175, PubMed:25567906).
    SequenceCaution:
    • Sequence=AAH03088.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RRAGD Gene

    Alternative splice isoforms for RRAGD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RRAGD Gene

Proteomics data for RRAGD Gene at MOPED

Post-translational modifications for RRAGD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RRAGD Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RRAGD (RRAGD)
  • Santa Cruz Biotechnology (SCBT) Antibodies for RRAGD

No data available for DME Specific Peptides for RRAGD Gene

Domains & Families for RRAGD Gene

Protein Domains for RRAGD Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RRAGD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NQL2

UniProtKB/Swiss-Prot:

RRAGD_HUMAN :
  • Belongs to the GTR/RAG GTP-binding protein family.
Family:
  • Belongs to the GTR/RAG GTP-binding protein family.
genes like me logo Genes that share domains with RRAGD: view

No data available for Gene Families for RRAGD Gene

Function for RRAGD Gene

Molecular function for RRAGD Gene

UniProtKB/Swiss-Prot Function:
Guanine nucleotide-binding protein forming heterodimeric Rag complexes required for the amino acid-induced relocalization of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB. This is a crucial step in the activation of the TOR signaling cascade by amino acids.

Gene Ontology (GO) - Molecular Function for RRAGD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IBA --
GO:0005515 protein binding IPI 11073942
GO:0005525 GTP binding IEA --
GO:0046982 protein heterodimerization activity IPI 11073942
genes like me logo Genes that share ontologies with RRAGD: view

Animal Model Products

miRNA for RRAGD Gene

miRTarBase miRNAs that target RRAGD

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RRAGD

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targets and HOMER Transcription for RRAGD Gene

Localization for RRAGD Gene

Subcellular locations from UniProtKB/Swiss-Prot for RRAGD Gene

Cytoplasm. Nucleus. Lysosome. Note=Predominantly cytoplasmic. May shuttle between the cytoplasm and nucleus, depending on the bound nucleotide state of associated RRAGA.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RRAGD Gene COMPARTMENTS Subcellular localization image for RRAGD gene
Compartment Confidence
lysosome 5
nucleus 5
vacuole 5
endosome 3

Gene Ontology (GO) - Cellular Components for RRAGD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 11073942
GO:0005737 cytoplasm IDA 11073942
GO:0005764 lysosome IDA 20381137
GO:0005829 cytosol TAS --
GO:0034448 EGO complex IBA --
genes like me logo Genes that share ontologies with RRAGD: view

Pathways & Interactions for RRAGD Gene

genes like me logo Genes that share pathways with RRAGD: view

Pathways by source for RRAGD Gene

1 Cell Signaling Technology pathway for RRAGD Gene
1 BioSystems pathway for RRAGD Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

SIGNOR curated interactions for RRAGD Gene

Activates:

Gene Ontology (GO) - Biological Process for RRAGD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0007050 cell cycle arrest TAS --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0009267 cellular response to starvation IBA --
GO:0010467 gene expression TAS --
genes like me logo Genes that share ontologies with RRAGD: view

Drugs & Compounds for RRAGD Gene

(3) Drugs for RRAGD Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with RRAGD: view

Transcripts for RRAGD Gene

Unigene Clusters for RRAGD Gene

Ras-related GTP binding D:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RRAGD

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RRAGD Gene

No ASD Table

Relevant External Links for RRAGD Gene

GeneLoc Exon Structure for
RRAGD
ECgene alternative splicing isoforms for
RRAGD

Expression for RRAGD Gene

mRNA expression in normal human tissues for RRAGD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RRAGD Gene

This gene is overexpressed in Muscle - Skeletal (x6.4).

Protein differential expression in normal tissues from HIPED for RRAGD Gene

This gene is overexpressed in Skin (24.5), Heart (22.2), Spinal cord (8.2), Testis (7.4), and Retina (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RRAGD Gene



SOURCE GeneReport for Unigene cluster for RRAGD Gene Hs.31712

genes like me logo Genes that share expression patterns with RRAGD: view

Protein tissue co-expression partners for RRAGD Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for RRAGD Gene

Orthologs for RRAGD Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RRAGD Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RRAGD 35
  • 92.36 (n)
  • 97.98 (a)
RRAGD 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RRAGD 35
  • 91.64 (n)
  • 96.69 (a)
RRAGD 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rragd 35
  • 89.06 (n)
  • 94.49 (a)
Rragd 16
Rragd 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RRAGD 35
  • 99.83 (n)
  • 100 (a)
RRAGD 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rragd 35
  • 87.64 (n)
  • 94.24 (a)
oppossum
(Monodelphis domestica)
Mammalia RRAGD 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RRAGD 36
  • 96 (a)
OneToOne
chicken
(Gallus gallus)
Aves RRAGD 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RRAGD 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rragd 35
  • 78.97 (n)
  • 89.84 (a)
zebrafish
(Danio rerio)
Actinopterygii rragd 35
  • 75.5 (n)
  • 86.61 (a)
rragd 36
  • 79 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta RagC 36
  • 64 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ragc-1 36
  • 48 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GTR2 36
  • 44 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4891 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9757 36
  • 61 (a)
OneToMany
Species with no ortholog for RRAGD:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RRAGD Gene

ENSEMBL:
Gene Tree for RRAGD (if available)
TreeFam:
Gene Tree for RRAGD (if available)

Paralogs for RRAGD Gene

Paralogs for RRAGD Gene

(1) SIMAP similar genes for RRAGD Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with RRAGD: view

Variants for RRAGD Gene

Sequence variations from dbSNP and Humsavar for RRAGD Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs45571540 -- 89,366,400(+) GGTTG(G/T)GCACA utr-variant-3-prime
rs36108326 -- 89,391,384(+) GTCTC(-/A)AAAAA intron-variant
rs36052183 -- 89,384,857(+) CTTCT(-/C)CAAAC intron-variant
rs36042088 -- 89,387,864(+) ACCAT(-/C)CCCGG intron-variant
rs35934225 -- 89,392,480(+) TCTCG(-/A)AAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RRAGD Gene

Variant ID Type Subtype PubMed ID
nsv526829 CNV Loss 19592680

Variation tolerance for RRAGD Gene

Residual Variation Intolerance Score: 40.26% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.05; 21.42% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RRAGD Gene

HapMap Linkage Disequilibrium report
RRAGD

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RRAGD Gene

Disorders for RRAGD Gene

MalaCards: The human disease database

(1) MalaCards diseases for RRAGD Gene - From: DISEASES

Disorder Aliases PubMed IDs
omenn syndrome
  • reticuloendotheliosis familial with eosinophilia
- elite association
Search RRAGD in MalaCards View complete list of genes associated with diseases

Relevant External Links for RRAGD

Genetic Association Database (GAD)
RRAGD
Human Genome Epidemiology (HuGE) Navigator
RRAGD
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RRAGD
genes like me logo Genes that share disorders with RRAGD: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RRAGD Gene

Publications for RRAGD Gene

  1. Novel G proteins, Rag C and Rag D, interact with GTP-binding proteins, Rag A and Rag B. (PMID: 11073942) Sekiguchi T. … Nishimoto T. (J. Biol. Chem. 2001) 2 67
  2. SLC38A9 is a component of the lysosomal amino acid sensing machinery that controls mTORC1. (PMID: 25561175) Rebsamen M. … Superti-Furga G. (Nature 2015) 67
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  4. Metabolism. Lysosomal amino acid transporter SLC38A9 signals arginine sufficiency to mTORC1. (PMID: 25567906) Wang S. … Sabatini D.M. (Science 2015) 67
  5. Amino acids activate mammalian target of rapamycin (mTOR) complex 1 without changing Rag GTPase guanyl nucleotide charging. (PMID: 24337580) Oshiro N. … Avruch J. (J. Biol. Chem. 2014) 67

Products for RRAGD Gene

Sources for RRAGD Gene

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