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RRAGC Ras related GTP binding C [ Homo sapiens (human) ]

Gene ID: 64121, updated on 2-Nov-2024

Summary

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Official Symbol
RRAGCprovided by HGNC
Official Full Name
Ras related GTP binding Cprovided by HGNC
Primary source
HGNC:HGNC:19902
See related
Ensembl:ENSG00000116954 MIM:608267; AllianceGenome:HGNC:19902
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GTR2; RAGC; LNGOS; LNGODS; TIB929
Summary
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]
Expression
Ubiquitous expression in fat (RPKM 23.8), placenta (RPKM 15.8) and 25 other tissues See more
Orthologs
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Genomic context

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See RRAGC in Genome Data Viewer
Location:
1p34.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (38838198..38859772, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (38705423..38727008, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (39303870..39325444, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378658 Neighboring gene CRISPRi-validated cis-regulatory element chr1.5052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38995999-38996641 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:39021300-39022499 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 797 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:39025118-39025733 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:39034058-39034665 Neighboring gene MPRA-validated peak186 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:39065535-39066150 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:39066151-39066766 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:39073721-39074510 Neighboring gene uncharacterized LOC105378660 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:39165731-39165950 Neighboring gene VISTA enhancer hs1031 Neighboring gene HSPA5 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:39206875-39207549 Neighboring gene Sharpr-MPRA regulatory region 12321 Neighboring gene NANOG hESC enhancer GRCh37_chr1:39212546-39213129 Neighboring gene VISTA enhancer hs1139 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:39253877-39254442 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:39281537-39282038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:39282039-39282538 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 688 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:39285036-39285203 Neighboring gene Sharpr-MPRA regulatory region 3933 Neighboring gene GJA9-MYCBP readthrough Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:39338054-39338576 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:39345299-39345483 Neighboring gene RRAGC divergent transcript Neighboring gene MYC binding protein Neighboring gene gap junction protein alpha 9

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Recurrent mTORC1-activating RRAGC mutations in follicular lymphoma. Okosun J, et al. Nat Genet, 2016 Feb. PMID 26691987, Free PMC Article
  2. De novo RRAGC mutation activates mTORC1 signaling in syndromic fetal dilated cardiomyopathy. Long PA, et al. Hum Genet, 2016 Aug. PMID 27234373, Free PMC Article
  3. Adenovirus immunoregulatory genes and their cellular targets. Horwitz MS. Virology, 2001 Jan 5. PMID 11145883
  4. Gene expression profile of oral squamous cell carcinomas from Sri Lankan betel quid users. Suhr ML, et al. Oncol Rep, 2007 Nov. PMID 17914555
  5. Euchromatin histone methyltransferase II (EHMT2) regulates the expression of ras-related GTP binding C (RRAGC) protein. Hwang S, et al. BMB Rep, 2020 Nov. PMID 32684241, Free PMC Article

See all (86) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
    Title: De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
  2. Structure of the lysosomal mTORC1-TFEB-Rag-Ragulator megacomplex.
    Title: Structure of the lysosomal mTORC1-TFEB-Rag-Ragulator megacomplex.
  3. Rag GTPases suppress PRL-3 degradation and predict poor clinical diagnosis of cancer patients with low PRL-3 mRNA expression.
    Title: Rag GTPases suppress PRL-3 degradation and predict poor clinical diagnosis of cancer patients with low PRL-3 mRNA expression.
  4. An interdomain hydrogen bond in the Rag GTPases maintains stable mTORC1 signaling in sensing amino acids.
    Title: An interdomain hydrogen bond in the Rag GTPases maintains stable mTORC1 signaling in sensing amino acids.
  5. Euchromatin histone methyltransferase II (EHMT2) regulates the expression of ras-related GTP binding C (RRAGC) protein.
    Title: Euchromatin histone methyltransferase II (EHMT2) regulates the expression of ras-related GTP binding C (RRAGC) protein.
  6. TFEB Overexpression, Not mTOR Inhibition, Ameliorates RagC(S75Y) Cardiomyopathy.
    Title: TFEB Overexpression, Not mTOR Inhibition, Ameliorates RagC(S75Y) Cardiomyopathy.
  7. Cancer-secreted miRNAs regulate amino-acid-induced mTORC1 signaling and fibroblast protein synthesis.
    Title: Cancer-secreted miRNAs regulate amino-acid-induced mTORC1 signaling and fibroblast protein synthesis.
  8. The Rag GTPase Regulates the Dynamic Behavior of TSC Downstream of Both Amino Acid and Growth Factor Restriction.
    Title: The Rag GTPase Regulates the Dynamic Behavior of TSC Downstream of Both Amino Acid and Growth Factor Restriction.
  9. Mitochondrial Threonyl-tRNA Synthetase TARS2 Is Required for Threonine-Sensitive mTORC1 Activation.
    Title: Mitochondrial Threonyl-tRNA Synthetase TARS2 Is Required for Threonine-Sensitive mTORC1 Activation.
  10. Structural mechanism for amino acid-dependent Rag GTPase nucleotide state switching by SLC38A9.
    Title: Structural mechanism for amino acid-dependent Rag GTPase nucleotide state switching by SLC38A9.
Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Long-Olsen-Distelmaier syndrome
MedGen: C5882721 OMIM: 620609 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: MYCBP

Homology

Clone Names

  • FLJ13311

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GDP binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables GDP binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables GTP binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GTP binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables GTP binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GTPase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables GTPase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables enzyme-substrate adaptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables magnesium ion binding NAS
Non-traceable Author Statement
more info
 PubMed 
enables molecular adaptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-membrane adaptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA-templated transcription NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in RNA splicing NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in apoptotic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in cellular response to amino acid starvation IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in cellular response to amino acid stimulus ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cellular response to nutrient levels IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to starvation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of autophagy IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of TORC1 signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of TORC1 signaling IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of TORC1 signaling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein localization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein localization to lysosome IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein localization to membrane IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of TOR signaling IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in regulation of TORC1 signaling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in response to amino acid IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in small GTPase-mediated signal transduction TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of FNIP-folliculin RagC/D GAP IDA
Inferred from Direct Assay
more info
 PubMed 
part_of Gtr1-Gtr2 GTPase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
is_active_in lysosomal membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in lysosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in lysosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
ras-related GTP-binding protein C
Names
GTPase-interacting protein 2
Rag C protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001271851.2 → NP_001258780.1  ras-related GTP-binding protein C isoform 2

    See identical proteins and their annotated locations for NP_001258780.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.
    Source sequence(s)
    AK298573, AK298788, AW327252, BC016668, BI461665, BQ003663, CB132041, CX761032, ES308561, HY202961, HY264464
    UniProtKB/TrEMBL
    B4DQG4
    Conserved Domains (1) summary
    cd11385
    Location:63 → 203
    RagC_like; Rag GTPase, subfamily of Ras-related GTPases, includes Ras-related GTP-binding proteins C and D

  2. NM_022157.4 → NP_071440.1  ras-related GTP-binding protein C isoform 1

    See identical proteins and their annotated locations for NP_071440.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK315791, BC016668, BI461665, BQ003663, CA449149, CB132041, CX761032, HY202961, HY264464
    Consensus CDS
    CCDS430.1
    UniProtKB/Swiss-Prot
    Q9H202, Q9H8Q8, Q9HB90
    UniProtKB/TrEMBL
    B4DQG4
    Related
    ENSP00000362092.3, ENST00000373001.4
    Conserved Domains (1) summary
    cd11385
    Location:63 → 237
    RagC_like; Rag GTPase, subfamily of Ras-related GTPases, includes Ras-related GTP-binding proteins C and D

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    38838198..38859772 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    38705423..38727008 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9HB90.1 GenPept UniProtKB/Swiss-Prot:Q9HB90

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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