Human Gene RRAGC (uc001ccq.3) Description and Page Index
  Description: Homo sapiens Ras-related GTP binding C (RRAGC), transcript variant 1, mRNA.
RefSeq Summary (NM_022157): 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].
Transcript (Including UTRs)
   Position: hg19 chr1:39,303,869-39,325,495 Size: 21,627 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr1:39,305,225-39,325,318 Size: 20,094 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr1:39,303,869-39,325,495)mRNA (may differ from genome)Protein (399 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
OMIMPubMedReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Ras-related GTP-binding protein C; Short=Rag C; Short=RagC; AltName: Full=GTPase-interacting protein 2; AltName: Full=TIB929;
FUNCTION: Has guanine nucleotide-binding activity but weak intrinsic GTPase activity. Probably 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.
SUBUNIT: Binds GTP. Forms a heterodimer with RRAGA, in a sequence- independent manner, and RRAGB. Heterodimerization stabilizes PPAG proteins. In complex with RRAGA or RRAGB, interacts with RPTOR; this interaction is particularly efficient with GTP-loaded RRAGB and GDP-loaded RRAGC. It is regulated by amino acids, since amino acid stimulation of cells increase the GTP-loading of RRAGB. Interacts with NOL8.
INTERACTION: Q7L523:RRAGA; NbExp=11; IntAct=EBI-752390, EBI-752376; Q5VZM2:RRAGB; NbExp=4; IntAct=EBI-752390, EBI-993049;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Lysosome. Note=Predominantly cytoplasmic. May shuttle between the cytoplasm and nucleus, depending on the bound nucleotide state of associated RRAGA.
SIMILARITY: Belongs to the GTR/RAG GTP-binding protein family.
SEQUENCE CAUTION: Sequence=BAB14548.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  MalaCards Disease Associations
  MalaCards Gene Search: RRAGC
Diseases sorted by gene-association score: birt-hogg-dube syndrome (6), dilated cardiomyopathy (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.20 RPKM in Adipose - Subcutaneous
Total median expression: 359.93 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -98.90177-0.559 Picture PostScript Text
3' UTR -379.431356-0.280 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006762 - Gtr1_RagA

Pfam Domains:
PF00025 - ADP-ribosylation factor family
PF04670 - Gtr1/RagA G protein conserved region
PF09439 - Signal recognition particle receptor beta subunit

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases

Protein Data Bank (PDB) 3-D Structure
MuPIT help

- X-ray MuPIT

ModBase Predicted Comparative 3D Structure on Q9HB90
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserNo orthologGenome Browser
Gene DetailsGene Details Gene Details Gene Details
Gene SorterGene Sorter Gene Sorter Gene Sorter
 RGDEnsemblFlyBase SGD
 Protein SequenceProtein SequenceProtein Sequence Protein Sequence
 AlignmentAlignmentAlignment Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0000287 magnesium ion binding
GO:0003924 GTPase activity
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0019003 GDP binding
GO:0046982 protein heterodimerization activity
GO:0051020 GTPase binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006915 apoptotic process
GO:0007050 cell cycle arrest
GO:0007264 small GTPase mediated signal transduction
GO:0008380 RNA splicing
GO:0010506 regulation of autophagy
GO:0016049 cell growth
GO:0016241 regulation of macroautophagy
GO:0032006 regulation of TOR signaling
GO:0032008 positive regulation of TOR signaling
GO:0034198 cellular response to amino acid starvation
GO:0034613 cellular protein localization
GO:0043200 response to amino acid
GO:0071230 cellular response to amino acid stimulus
GO:1903432 regulation of TORC1 signaling

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005829 cytosol
GO:0034448 EGO complex
GO:0043231 intracellular membrane-bounded organelle
GO:1990131 Gtr1-Gtr2 GTPase complex

-  Descriptions from all associated GenBank mRNAs
  AK298573 - Homo sapiens cDNA FLJ57859 complete cds, highly similar to Ras-related GTP-binding protein C.
AF323609 - Homo sapiens GTPase-interacting protein 2 mRNA, complete cds.
BC016668 - Homo sapiens Ras-related GTP binding C, mRNA (cDNA clone MGC:17287 IMAGE:4342448), complete cds.
BC044622 - Homo sapiens cDNA clone IMAGE:5275700, **** WARNING: chimeric clone ****.
AK298788 - Homo sapiens cDNA FLJ55138 complete cds, highly similar to Ras-related GTP-binding protein C.
AF272035 - Homo sapiens Rag C mRNA, complete cds.
DQ894911 - Synthetic construct Homo sapiens clone IMAGE:100009371; FLH179508.01L; RZPDo839H04129D Ras-related GTP binding C (RRAGC) gene, encodes complete protein.
DQ891734 - Synthetic construct clone IMAGE:100004364; FLH179512.01X; RZPDo839H04130D Ras-related GTP binding C (RRAGC) gene, encodes complete protein.
AK315791 - Homo sapiens cDNA, FLJ96910.
KJ894534 - Synthetic construct Homo sapiens clone ccsbBroadEn_03928 RRAGC gene, encodes complete protein.
CU677671 - Synthetic construct Homo sapiens gateway clone IMAGE:100019234 5' read RRAGC mRNA.
AF131773 - Homo sapiens clone 25007 mRNA sequence.
AK023373 - Homo sapiens cDNA FLJ13311 fis, clone OVARC1001476, highly similar to Mus musculus YGR163w mRNA homologue.
DQ577299 - Homo sapiens piRNA piR-45411, complete sequence.
AK092808 - Homo sapiens cDNA FLJ35489 fis, clone SMINT2008558, moderately similar to Mus musculus YGR163w mRNA homologue.
JD171724 - Sequence 152748 from Patent EP1572962.
JD196939 - Sequence 177963 from Patent EP1572962.
JD162351 - Sequence 143375 from Patent EP1572962.
JD067663 - Sequence 48687 from Patent EP1572962.
DQ598612 - Homo sapiens piRNA piR-36678, complete sequence.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9HB90 (Reactome details) participates in the following event(s):

R-HSA-5653957 Rag dimer formation
R-HSA-5653974 Ragulator binds Rag dimers
R-HSA-8952716 SLC38A9 binds Ragulator:Rag dimers
R-HSA-5653968 Ragulator:Rag dimers:SLC38A9 bind mTORC1
R-HSA-165680 Formation of active mTORC1 complex
R-HSA-8952726 SLC38A9 transports L-Arg from lysosomal lumen to cytosol
R-HSA-380979 RHEB in mTORC1:RHEB:GTP hydrolyses GTP
R-HSA-447074 AMPK phosphorylates Raptor in the mTORC1 complex
R-HSA-5672843 AKT1S1 (PRAS40) binds mTORC1
R-HSA-5672017 Rheb in the mTORC1 complex hydrolyses GTP
R-HSA-5672817 Active mTORC1 binds the ULK1 complex
R-HSA-5675790 mTORC1 dissociates from ULK complex
R-HSA-5672824 Phosphorylated AKT1S1:mTORC1 binds YWHAB
R-HSA-377186 Activated Akt1 phosphorylates AKT1S1 (PRAS40)
R-HSA-165692 Phosphorylation of 4E-BP1 by activated mTORC1
R-HSA-165718 mTORC1 phosphorylation of RPS6KB1 (S6K)
R-HSA-5672010 Active mTORC1 phosphorylates ULK1
R-HSA-5673768 p-AMPK:AMP phosphorylates Raptor in the mTORC1 complex
R-HSA-8944454 mTORC1 phosphorylates MAF1
R-HSA-5672828 mTORC1 phosphorylates AKT1S1
R-HSA-165159 mTOR signalling
R-HSA-162582 Signal Transduction
R-HSA-380972 Energy dependent regulation of mTOR by LKB1-AMPK
R-HSA-5628897 TP53 Regulates Metabolic Genes
R-HSA-1632852 Macroautophagy
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-166208 mTORC1-mediated signalling
R-HSA-8953897 Cellular responses to external stimuli
R-HSA-8943724 Regulation of PTEN gene transcription
R-HSA-212436 Generic Transcription Pathway
R-HSA-6807070 PTEN Regulation
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-74160 Gene expression (Transcription)
R-HSA-9006925 Intracellular signaling by second messengers

-  Other Names for This Gene
  Alternate Gene Symbols: NM_022157, NP_071440, Q9H202, Q9H8Q8, Q9HB90, RRAGC_HUMAN, uc001ccq.2
UCSC ID: uc001ccq.3
RefSeq Accession: NM_022157
Protein: Q9HB90 (aka RRAGC_HUMAN)

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_022157.3
exon count: 7CDS single in 3' UTR: no RNA size: 2746
ORF size: 1200CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2523.00frame shift in genome: no % Coverage: 99.53
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.