Ras-homologous GTPases constitute a large family of signal transducers that alternate between an activated, GTP-binding state and an inactivated, GDP-binding state. These proteins represent cellular switches that are operated by GTP-exchange factors and factors that stimulate their intrinsic GTPase activity. All GTPases of the Ras superfamily have in common the presence of six ... See more...

Aliases for RRAGB Gene

Aliases for RRAGB Gene

  • Ras Related GTP Binding B 2 3 5
  • Ras-Related GTP-Binding Protein B 3 4
  • Rag B 3 4
  • Ras-Related GTP Binding B 2
  • GTP-Binding Protein RagB 3
  • BA465E19.1 3
  • EC 3.6.5.- 4
  • RRAGB 5
  • RAGB 3
  • RagB 4

External Ids for RRAGB Gene

Previous GeneCards Identifiers for RRAGB Gene

  • GC0XP054349
  • GC0XP054710
  • GC0XP054711
  • GC0XP055627
  • GC0XP055760
  • GC0XP052798

Summaries for RRAGB Gene

Entrez Gene Summary for RRAGB Gene

  • Ras-homologous GTPases constitute a large family of signal transducers that alternate between an activated, GTP-binding state and an inactivated, GDP-binding state. These proteins represent cellular switches that are operated by GTP-exchange factors and factors that stimulate their intrinsic GTPase activity. All GTPases of the Ras superfamily have in common the presence of six conserved motifs involved in GTP/GDP binding, three of which are phosphate-/magnesium-binding sites (PM1-PM3) and three of which are guanine nucleotide-binding sites (G1-G3). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for RRAGB Gene

RRAGB (Ras Related GTP Binding B) is a Protein Coding gene. Diseases associated with RRAGB include Polycystic Echinococcosis and Birt-Hogg-Dube Syndrome. Among its related pathways are Macroautophagy and TP53 Regulates Metabolic Genes. Gene Ontology (GO) annotations related to this gene include GTP binding and guanyl ribonucleotide binding. An important paralog of this gene is RRAGA.

UniProtKB/Swiss-Prot Summary for RRAGB Gene

  • 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:18497260, PubMed:20381137, PubMed:24095279, PubMed:23723238). Forms heterodimeric Rag complexes with RRAGC or RRAGD and cycles between an inactive GDP-bound and an active GTP-bound form (PubMed:18497260, PubMed:20381137, PubMed:24095279, PubMed:23723238). In its active form participates in the relocalization of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB (PubMed:18497260, PubMed:20381137, PubMed:23723238). Involved in the RCC1/Ran-GTPase pathway (PubMed:9394008).

Gene Wiki entry for RRAGB Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RRAGB Gene

Genomics for RRAGB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RRAGB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ055716 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.4 408 2.5 SP1 MYC ZNF580 POLR2A YY1 CTCF REST CEBPB SIN3A TRIM22 HSALNG0138128 RRAGB ENSG00000227486 KLF8 MAGEH1 piR-44878-075
GH0XJ055593 Promoter 0.5 EPDnew 250.1 -123.7 -123724 0.1 POLR2A CHD2 RRAGB FOXR2 lnc-USP51-3 ENSG00000200635 USP51
GH0XJ055719 Promoter 0.3 Ensembl 250.7 +2.0 1954 0.2 HSALNG0138128 RRAGB piR-44878-075 KLF8
GH0XJ055712 Enhancer 0.3 ENCODE 0.7 -4.1 -4120 2.1 RELA IKZF1 ENSG00000227486 RRAGB RF00017-7859 FOXR2
GH0XJ055710 Enhancer 0.4 ENCODE 0.4 -6.5 -6499 1.7 JUND MAX NR2F2 FOXR2 MAGEH1 RRAGB RF00017-7859
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RRAGB on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RRAGB

Top Transcription factor binding sites by QIAGEN in the RRAGB gene promoter:
  • E2F
  • E2F-1
  • Evi-1
  • HTF
  • MZF-1
  • POU2F1
  • POU2F1a
  • POU6F1 (c2)
  • SRF
  • SRF (504 AA)

Genomic Locations for RRAGB Gene

Latest Assembly
chrX:55,717,747-55,760,209
(GRCh38/hg38)
Size:
42,463 bases
Orientation:
Plus strand

Previous Assembly
chrX:55,744,182-55,785,207
(GRCh37/hg19 by Entrez Gene)
Size:
41,026 bases
Orientation:
Plus strand

chrX:55,744,172-55,785,207
(GRCh37/hg19 by Ensembl)
Size:
41,036 bases
Orientation:
Plus strand

Genomic View for RRAGB Gene

Genes around RRAGB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RRAGB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RRAGB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RRAGB Gene

Proteins for RRAGB Gene

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

    Protein Symbol:
    Q5VZM2-RRAGB_HUMAN
    Recommended name:
    Ras-related GTP-binding protein B
    Protein Accession:
    Q5VZM2
    Secondary Accessions:
    • A8K042
    • Q15348
    • Q8N3T0

    Protein attributes for RRAGB Gene

    Size:
    374 amino acids
    Molecular mass:
    43250 Da
    Quaternary structure:
    • Interacts with RRAGC and RRAGD; heterodimerization stabilizes RRAG proteins (PubMed:11073942). In complex with RRAGC, but not with RRAGA, interacts with RPTOR; this interaction is particularly efficient with GTP-loaded RRAGB and GDP-loaded RRAGC (PubMed:18497260). Component of the lysosomal folliculin complex (LFC), composed of FLCN, FNIP1 (or FNIP2), RRAGA/RagA or RRAGB/RagB GDP-bound, RRAGC/RagC or RRAGD/RagD GTP-bound, and Ragulator (By similarity). Interacts with SH3BP4; the interaction with this negative regulator is most probably direct, preferentially occurs with the inactive GDP-bound form of RRAGB, is negatively regulated by amino acids and prevents interaction with RPTOR (PubMed:22575674). Interacts with the GATOR1 complex; inactivates RRAGB (PubMed:23723238). The Rag heterodimer interacts with SLC38A9; the probable amino acid sensor (PubMed:25561175, PubMed:25567906). Interacts with SESN1, SESN2 and SESN3 (PubMed:25259925).

    Alternative splice isoforms for RRAGB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RRAGB Gene

Post-translational modifications for RRAGB Gene

  • Ubiquitination at Lys203, Lys281, Lys291, and Lys305
  • Modification sites at PhosphoSitePlus

Other Protein References for RRAGB Gene

Antibodies for research

  • Boster Bio Antibodies for RRAGB
  • Santa Cruz Biotechnology (SCBT) Antibodies for RRAGB

No data available for DME Specific Peptides for RRAGB Gene

Domains & Families for RRAGB Gene

Gene Families for RRAGB Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RRAGB Gene

Suggested Antigen Peptide Sequences for RRAGB Gene

GenScript: Design optimal peptide antigens:
  • Ras-related GTP-binding protein B (RRAGB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5VZM2

UniProtKB/Swiss-Prot:

RRAGB_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 RRAGB: view

Function for RRAGB Gene

Molecular function for RRAGB Gene

UniProtKB/Swiss-Prot 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:18497260, PubMed:20381137, PubMed:24095279, PubMed:23723238). Forms heterodimeric Rag complexes with RRAGC or RRAGD and cycles between an inactive GDP-bound and an active GTP-bound form (PubMed:18497260, PubMed:20381137, PubMed:24095279, PubMed:23723238). In its active form participates in the relocalization of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB (PubMed:18497260, PubMed:20381137, PubMed:23723238). Involved in the RCC1/Ran-GTPase pathway (PubMed:9394008).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=GTP + H2O = GDP + H(+) + phosphate; Xref=Rhea:RHEA:19669, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:43474, ChEBI:CHEBI:58189; Evidence={ECO:0000269|PubMed:23723238, ECO:0000305|PubMed:24095279};.
UniProtKB/Swiss-Prot EnzymeRegulation:
The activation of GTP-binding proteins is generally mediated by a guanine exchange factor (GEF), while inactivation through hydrolysis of bound GTP is catalyzed by a GTPase activating protein (GAP). The GATOR1 complex functions as a GAP and stimulates RRAGB GTPase activity to turn it into its inactive GDP-bound form.

Enzyme Numbers (IUBMB) for RRAGB Gene

Phenotypes From GWAS Catalog for RRAGB Gene

Gene Ontology (GO) - Molecular Function for RRAGB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IDA 23723238
GO:0005515 protein binding IPI 11073942
GO:0005525 GTP binding IDA,IMP 22424946
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with RRAGB: view
genes like me logo Genes that share phenotypes with RRAGB: view

Animal Models for RRAGB Gene

MGI Knock Outs for RRAGB:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RRAGB

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RRAGB Gene

Localization for RRAGB Gene

Subcellular locations from UniProtKB/Swiss-Prot for RRAGB Gene

Cytoplasm. Lysosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RRAGB gene
Compartment Confidence
cytosol 5
lysosome 5
nucleus 4
endosome 4
golgi apparatus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RRAGB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IDA 9394008
GO:0005764 lysosome IBA,IDA 20381137
GO:0005765 lysosomal membrane HDA 17897319
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RRAGB: view

Pathways & Interactions for RRAGB Gene

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

Pathways by source for RRAGB Gene

Gene Ontology (GO) - Biological Process for RRAGB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007050 cell cycle arrest TAS --
GO:0009267 cellular response to starvation IBA 21873635
GO:0010506 regulation of autophagy IBA 21873635
GO:0016241 regulation of macroautophagy TAS --
GO:0032006 regulation of TOR signaling IGI 23723238
genes like me logo Genes that share ontologies with RRAGB: view

No data available for SIGNOR curated interactions for RRAGB Gene

Drugs & Compounds for RRAGB Gene

(3) Drugs for RRAGB 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 RRAGB: view

Transcripts for RRAGB Gene

mRNA/cDNA for RRAGB Gene

4 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RRAGB

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1: - -
SP2: - - -
SP3:
SP4:

Relevant External Links for RRAGB Gene

GeneLoc Exon Structure for
RRAGB

Expression for RRAGB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RRAGB Gene

Protein differential expression in normal tissues from HIPED for RRAGB Gene

This gene is overexpressed in Heart (23.1), Peripheral blood mononuclear cells (16.2), and Frontal cortex (13.8).

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



Protein tissue co-expression partners for RRAGB Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RRAGB

SOURCE GeneReport for Unigene cluster for RRAGB Gene:

Hs.50282

Evidence on tissue expression from TISSUES for RRAGB Gene

  • Nervous system(3.3)
  • Kidney(2.2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with RRAGB: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RRAGB Gene

Orthologs for RRAGB Gene

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

Orthologs for RRAGB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RRAGB 29 30
  • 99.9 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RRAGB 30
  • 98 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia RRAGB 29 30
  • 94.92 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RRAGB 29 30
  • 94.82 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 93 (a)
ManyToMany
-- 30
  • 88 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia Rragb 29 16 30
  • 92.42 (n)
OneToOne
Chicken
(Gallus gallus)
Aves -- 30
  • 87 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 91 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii rraga 30
  • 95 (a)
OneToMany
wufc68h09 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002991 29
  • 70.72 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta RagA 29 30
  • 67.91 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea raga-1 29 30
  • 62.71 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GTR1 30 32
  • 52 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6548 30
  • 74 (a)
OneToMany
Species where no ortholog for RRAGB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for RRAGB Gene

ENSEMBL:
Gene Tree for RRAGB (if available)
TreeFam:
Gene Tree for RRAGB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RRAGB: view image
Alliance of Genome Resources:
Additional Orthologs for RRAGB

Paralogs for RRAGB Gene

Paralogs for RRAGB Gene

(1) SIMAP similar genes for RRAGB Gene using alignment to 2 proteins:

  • RRAGB_HUMAN
  • Q5VZM0_HUMAN
genes like me logo Genes that share paralogs with RRAGB: view

Variants for RRAGB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RRAGB Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs776541761 Benign: not provided 55,755,837(+) A/G
NM_006064.5(RRAGB):c.736-4A>G
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RRAGB Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv3352059 CNV insertion 20981092

Variation tolerance for RRAGB Gene

Residual Variation Intolerance Score: 19.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.46; 10.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RRAGB Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RRAGB
Leiden Open Variation Database (LOVD)
RRAGB

SNP Genotyping and Copy Number Assays for research

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

Disorders for RRAGB Gene

MalaCards: The human disease database

(3) MalaCards diseases for RRAGB Gene - From: COP

Disorder Aliases PubMed IDs
polycystic echinococcosis
  • human polycystic hydatid disease
birt-hogg-dube syndrome
  • bhd
cone-rod dystrophy 2
  • cord2
- elite association - COSMIC cancer census association via MalaCards
Search RRAGB in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RRAGB

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with RRAGB: view

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

Publications for RRAGB Gene

  1. Cloning of a novel family of mammalian GTP-binding proteins (RagA, RagBs, RagB1) with remote similarity to the Ras-related GTPases. (PMID: 7499430) Schürmann A … Joost HG (The Journal of biological chemistry 1995) 2 3 4 22
  2. RagA is a functional homologue of S. cerevisiae Gtr1p involved in the Ran/Gsp1-GTPase pathway. (PMID: 9394008) Hirose E … Nishimoto T (Journal of cell science 1998) 2 3 4
  3. Metabolism. Lysosomal amino acid transporter SLC38A9 signals arginine sufficiency to mTORC1. (PMID: 25567906) Wang S … Sabatini DM (Science (New York, N.Y.) 2015) 3 4
  4. SLC38A9 is a component of the lysosomal amino acid sensing machinery that controls mTORC1. (PMID: 25561175) Rebsamen M … Superti-Furga G (Nature 2015) 3 4
  5. Sestrins function as guanine nucleotide dissociation inhibitors for Rag GTPases to control mTORC1 signaling. (PMID: 25259925) Peng M … Li MO (Cell 2014) 3 4

Products for RRAGB Gene

Sources for RRAGB Gene