RRAGD Ras related GTP binding D [Homo sapiens (human)] - Gene

Summary

Official Symbol: RRAGDprovided by HGNC
Official Full Name: Ras related GTP binding Dprovided by HGNC
Primary source: HGNC:HGNC:19903
See related: Ensembl:ENSG00000025039 MIM:608268; AllianceGenome:HGNC:19903
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RAGD; HOMG7; bA11D8.2.1
Summary: RRAGD is a monomeric guanine nucleotide-binding protein, or G protein. By binding GTP or GDP, small G proteins act as molecular switches in numerous cell processes and signaling pathways.[supplied by OMIM, Apr 2004]
Expression: Broad expression in thyroid (RPKM 16.9), heart (RPKM 13.1) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q15

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (89364616..89412273, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (90573972..90621638, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (90074335..90121992, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome.
Title: RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome.
Ras related GTP binding D promotes aerobic glycolysis of hepatocellular carcinoma.
Title: Ras related GTP binding D promotes aerobic glycolysis of hepatocellular carcinoma.
mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.
Title: mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.
BC-LI-0186 binds to the RagD interacting site of LRS, thereby inhibiting lysosomal localization of LRS and mTORC1 activity.
Title: Control of leucine-dependent mTORC1 pathway through chemical intervention of leucyl-tRNA synthetase and RagD interaction.
demonstrating a key role of RagD in promoting tumor growth
Title: Transcriptional activation of RagD GTPase controls mTORC1 and promotes cancer growth.
FLCN and its binding partners, FNIP1/2, are Rag-interacting proteins with GAP activity for RagC/D, but not RagA/B.
Title: The folliculin tumor suppressor is a GAP for the RagC/D GTPases that signal amino acid levels to mTORC1.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction

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
Hypomagnesemia 7, renal, with or without dilated cardiomyopathy MedGen: C5774266 OMIM: 620152 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

RH17546 (e-PCR)
- UniSTS:53533

WI-15526 (e-PCR)
- UniSTS:799

AFM185xd10 (e-PCR)
- UniSTS:13874

D6S247 (e-PCR)
- UniSTS:147256

G27951 (e-PCR)
- UniSTS:2386

RH15841 (e-PCR)
- UniSTS:2646

RH46740 (e-PCR)
- UniSTS:17296

SHGC-32424 (e-PCR)
- UniSTS:81049

SHGC-153580 (e-PCR)
- UniSTS:177827

D6S2099 (e-PCR)
- UniSTS:51659

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	IMP Inferred from Mutant Phenotype more info	PubMed
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables GTPase binding	IPI Inferred from Physical Interaction 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

Process	Evidence Code	Pubs
involved_in cellular response to L-leucine	IMP Inferred from Mutant Phenotype 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 leucine starvation	IMP Inferred from Mutant Phenotype 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 TOR signaling	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of TORC1 signaling	IBA Inferred from Biological aspect of Ancestor more info
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

Component	Evidence Code	Pubs
part_of Gtr1-Gtr2 GTPase complex	IBA Inferred from Biological aspect of Ancestor more info
located_in centrosome	IDA Inferred from Direct Assay more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IMP Inferred from Mutant Phenotype 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
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info
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
located_in nucleus	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: ras-related GTP-binding protein D

Names: Rag D 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.