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Aliases for RRAGC Gene

Aliases for RRAGC Gene

  • Ras Related GTP Binding C 2 3 5
  • GTPase-Interacting Protein 2 3 4
  • TIB929 3 4
  • Ras-Related GTP-Binding Protein C 3
  • Ras-Related GTP Binding C 2
  • Rag C Protein 3
  • Rag C 4
  • GTR2 3
  • RAGC 3
  • RagC 4

External Ids for RRAGC Gene

Previous GeneCards Identifiers for RRAGC Gene

  • GC01M038718
  • GC01M038717
  • GC01M038974
  • GC01M039076
  • GC01M039303
  • GC01M037423

Summaries for RRAGC Gene

Entrez Gene Summary for RRAGC Gene

  • This gene encodes a member of the GTR/RAG GTP-binding protein family. The encoded protein is a monomeric guanine nucleotide-binding protein which forms a heterodimer with RRAGA and RRAGB and is primarily localized to the cytoplasm. The encoded protein promotes intracellular localization of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

GeneCards Summary for RRAGC Gene

RRAGC (Ras Related GTP Binding C) is a Protein Coding gene. Diseases associated with RRAGC include Birt-Hogg-Dube Syndrome and Dilated Cardiomyopathy. Among its related pathways are Gene Expression and Translational Control. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and GTPase activity. An important paralog of this gene is RRAGD.

UniProtKB/Swiss-Prot for RRAGC 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.

Gene Wiki entry for RRAGC Gene

Additional gene information for RRAGC Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RRAGC Gene

Genomics for RRAGC Gene

GeneHancer (GH) Regulatory Elements for RRAGC Gene

Promoters and enhancers for RRAGC 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
GH01J038857 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 +0.5 468 3.7 HDGF PKNOX1 CLOCK MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 LOC105378663 RRAGC PIR59723 AKIRIN1 PPIE SF3A3 INPP5B PPIEL GC01P038850 ENSG00000273637
GH01J038861 Enhancer 0.5 FANTOM5 650.7 -1.8 -1841 0.5 ZNF362 ZNF384 ZBTB33 MLLT1 LOC105378663 GC01P038865 RRAGC PIR59723 PIR42241 ENSG00000273637
GH01J037988 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 20 +870.0 870036 2.4 ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 SF3A3 GC01P037993 RNU6-510P C1orf109 GNL2 MYCBP FTH1P1 INPP5B FHL3 RSPO1
GH01J039573 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10 -715.6 -715590 4.1 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A YY1 POLR2B ZNF766 ZNF213 PABPC4 OXCT2P1 PPIE OXCT2 RRAGC GC01M039576 SNORA55 GC01M039569 GC01M039568
GH01J039025 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10 -166.7 -166743 2.4 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 SLC30A9 NDUFS5 PPIE MYCBP TRIT1 LOC101929516 AKIRIN1 SNORA55 PPIEL GJA9 RRAGC
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RRAGC on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RRAGC gene promoter:
  • AP-2gamma
  • AP-2beta
  • AP-2alphaA
  • AP-2alpha
  • SRF
  • SRF (504 AA)
  • C/EBPalpha
  • Tal-1beta
  • E47
  • FOXO4

Genomic Locations for RRAGC Gene

Genomic Locations for RRAGC Gene
chr1:38,838,197-38,859,823
(GRCh38/hg38)
Size:
21,627 bases
Orientation:
Minus strand
chr1:39,303,870-39,325,495
(GRCh37/hg19)
Size:
21,626 bases
Orientation:
Minus strand

Genomic View for RRAGC Gene

Genes around RRAGC on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for RRAGC Gene

Proteins for RRAGC Gene

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

    Protein Symbol:
    Q9HB90-RRAGC_HUMAN
    Recommended name:
    Ras-related GTP-binding protein C
    Protein Accession:
    Q9HB90
    Secondary Accessions:
    • Q9H202
    • Q9H8Q8

    Protein attributes for RRAGC Gene

    Size:
    399 amino acids
    Molecular mass:
    44224 Da
    Quaternary structure:
    • Forms a heterodimer with RRAGA, in a sequence-independent manner, and RRAGB. Heterodimerization stabilizes proteins of the heterodimer. In complex with RRAGA or 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 RRAGB, is negatively regulated by amino acids and prevents interaction with RPTOR (PubMed:11073942, PubMed:14660641, PubMed:18497260, PubMed:22575674). The Rag heterodimer interacts with SLC38A9; the probable amino acid sensor (PubMed:25561175, PubMed:25567906). Interacts with SESN1, SESN2 AND SESN3 (PubMed:25259925).
    SequenceCaution:
    • Sequence=BAB14548.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RRAGC Gene

neXtProt entry for RRAGC Gene

Post-translational modifications for RRAGC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RRAGC Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RRAGC Gene

Domains & Families for RRAGC Gene

Gene Families for RRAGC Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for RRAGC Gene

Suggested Antigen Peptide Sequences for RRAGC Gene

Graphical View of Domain Structure for InterPro Entry

Q9HB90

UniProtKB/Swiss-Prot:

RRAGC_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 RRAGC: view

Function for RRAGC Gene

Molecular function for RRAGC 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.

Phenotypes From GWAS Catalog for RRAGC Gene

Gene Ontology (GO) - Molecular Function for RRAGC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding NAS 11073942
GO:0003924 GTPase activity IDA 11073942
GO:0005515 protein binding IPI 11073942
GO:0005525 GTP binding IDA,IMP 22424946
GO:0019003 GDP binding IMP 22424946
genes like me logo Genes that share ontologies with RRAGC: view
genes like me logo Genes that share phenotypes with RRAGC: view

Animal Model Products

CRISPR Products

miRNA for RRAGC Gene

miRTarBase miRNAs that target RRAGC

Inhibitory RNA Products

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

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RRAGC Gene

Localization for RRAGC Gene

Subcellular locations from UniProtKB/Swiss-Prot for RRAGC Gene

Cytoplasm. Nucleus. Lysosome. Note=Predominantly cytoplasmic. May shuttle between the cytoplasm and nucleus, depending on the bound nucleotide state of associated RRAGA (PubMed:11073942). {ECO:0000269 PubMed:11073942}.

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 RRAGC gene
Compartment Confidence
nucleus 5
cytosol 5
lysosome 5
endosome 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RRAGC Gene

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

Pathways & Interactions for RRAGC Gene

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

Pathways by source for RRAGC Gene

2 KEGG pathways for RRAGC Gene
1 Cell Signaling Technology pathway for RRAGC Gene

SIGNOR curated interactions for RRAGC Gene

Activates:

Gene Ontology (GO) - Biological Process for RRAGC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated NAS 11073942
GO:0006915 apoptotic process NAS 11073942
GO:0007050 cell cycle arrest TAS --
GO:0007264 small GTPase mediated signal transduction TAS 11073942
GO:0008380 RNA splicing NAS 11073942
genes like me logo Genes that share ontologies with RRAGC: view

Drugs & Compounds for RRAGC Gene

(3) Drugs for RRAGC 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 RRAGC: view

Transcripts for RRAGC Gene

mRNA/cDNA for RRAGC Gene

Unigene Clusters for RRAGC Gene

Ras-related GTP binding C:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

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

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b
SP1: -
SP2: - -
SP3: - -
SP4:

Relevant External Links for RRAGC Gene

GeneLoc Exon Structure for
RRAGC
ECgene alternative splicing isoforms for
RRAGC

Expression for RRAGC Gene

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

Protein differential expression in normal tissues from HIPED for RRAGC Gene

This gene is overexpressed in Liver (24.6), Amniocyte (12.7), and Peripheral blood mononuclear cells (6.9).

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



Protein tissue co-expression partners for RRAGC Gene

NURSA nuclear receptor signaling pathways regulating expression of RRAGC Gene:

RRAGC

SOURCE GeneReport for Unigene cluster for RRAGC Gene:

Hs.532461

Evidence on tissue expression from TISSUES for RRAGC Gene

  • Liver(4.2)
  • Pancreas(3.2)
genes like me logo Genes that share expression patterns with RRAGC: 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 RRAGC Gene

Orthologs for RRAGC Gene

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

Orthologs for RRAGC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RRAGC 34 33
  • 99.3 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RRAGC 34 33
  • 96.24 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RRAGC 34 33
  • 95.32 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rragc 16 34 33
  • 92.04 (n)
oppossum
(Monodelphis domestica)
Mammalia RRAGC 34
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rragc 33
  • 90.79 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RRAGC 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves RRAGC 34 33
  • 81.54 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RRAGC 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rragc 33
  • 79.49 (n)
Str.16064 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.7005 33
zebrafish
(Danio rerio)
Actinopterygii rragcb 34
  • 82 (a)
OneToMany
rragca 34 33
  • 75.18 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta RagC 34 33
  • 67.41 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007634 33
  • 65.35 (n)
worm
(Caenorhabditis elegans)
Secernentea ragc-1 34 33
  • 54.51 (n)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GTR2 36 34
  • 45 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9757 34
  • 65 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gtr2 33
  • 63.38 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00376 33
  • 54.47 (n)
Species where no ortholog for RRAGC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • 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 RRAGC Gene

ENSEMBL:
Gene Tree for RRAGC (if available)
TreeFam:
Gene Tree for RRAGC (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RRAGC: view image

Paralogs for RRAGC Gene

Paralogs for RRAGC Gene

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

  • RRAGC_HUMAN
  • D3DPT8_HUMAN
genes like me logo Genes that share paralogs with RRAGC: view

Variants for RRAGC Gene

Sequence variations from dbSNP and Humsavar for RRAGC Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000113969 -- 38,851,542(-) T/C intron_variant
rs1000159960 -- 38,855,483(-) T/C intron_variant
rs1000175760 -- 38,845,169(-) C/A intron_variant
rs1000326502 -- 38,859,334(-) G/A intron_variant
rs1000357057 -- 38,853,339(-) A/T intron_variant

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

Variant ID Type Subtype PubMed ID
nsv1078344 CNV deletion 25765185

Variation tolerance for RRAGC Gene

Residual Variation Intolerance Score: 34% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.30; 6.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RRAGC Gene

Human Gene Mutation Database (HGMD)
RRAGC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RRAGC

SNP Genotyping and Copy Number Assay Products

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

Disorders for RRAGC Gene

MalaCards: The human disease database

(2) MalaCards diseases for RRAGC Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
birt-hogg-dube syndrome
  • bhd
dilated cardiomyopathy
  • cardiomyopathy, familial idiopathic
- elite association - COSMIC cancer census association via MalaCards
Search RRAGC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RRAGC_HUMAN
  • 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}.

Additional Disease Information for RRAGC

genes like me logo Genes that share disorders with RRAGC: view

No data available for Genatlas for RRAGC Gene

Publications for RRAGC 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 (The Journal of biological chemistry 2001) 2 3 4 58
  2. De novo RRAGC mutation activates mTORC1 signaling in syndromic fetal dilated cardiomyopathy. (PMID: 27234373) Long PA … Olson TM (Human genetics 2016) 3 4 58
  3. 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 58
  4. 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 58
  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 58

Products for RRAGC Gene

Sources for RRAGC Gene

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