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

Summary

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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Structure of the lysosomal mTORC1-TFEB-Rag-Ragulator megacomplex.
Title: Structure of the lysosomal mTORC1-TFEB-Rag-Ragulator megacomplex.
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.
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.
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.
TFEB Overexpression, Not mTOR Inhibition, Ameliorates RagC(S75Y) Cardiomyopathy.
Title: TFEB Overexpression, Not mTOR Inhibition, Ameliorates RagC(S75Y) Cardiomyopathy.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G29137 (e-PCR)
- UniSTS:81671

SHGC-74629 (e-PCR)
- UniSTS:8735

D1S261E (e-PCR)
- UniSTS:147342

SGC38299 (e-PCR)
- UniSTS:71855

RH50026 (e-PCR)
- UniSTS:36282

RH80711 (e-PCR)
- UniSTS:86724

SHGC-74630 (e-PCR)
- UniSTS:20965

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 membrane scission GTPase motor activity	IEA Inferred from Electronic Annotation more info
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)

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
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