RHEB Ras homolog, mTORC1 binding [Homo sapiens (human)] - Gene

Summary

Official Symbol: RHEBprovided by HGNC
Official Full Name: Ras homolog, mTORC1 bindingprovided by HGNC
Primary source: HGNC:HGNC:10011
See related: Ensembl:ENSG00000106615 MIM:601293; AllianceGenome:HGNC:10011
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: RHEB2
Summary: This gene is a member of the small GTPase superfamily and encodes a lipid-anchored, cell membrane protein with five repeats of the RAS-related GTP-binding region. This protein is vital in regulation of growth and cell cycle progression due to its role in the insulin/TOR/S6K signaling pathway. The protein has GTPase activity and shuttles between a GDP-bound form and a GTP-bound form, and farnesylation of the protein is required for this activity. Three pseudogenes have been mapped, two on chromosome 10 and one on chromosome 22. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in adrenal (RPKM 38.1), brain (RPKM 36.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q36.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (151466012..151519895, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (152638843..152692729, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (151163098..151216981, complement)

Chromosome 7 - NC_000007.14 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?

Intrinsically Disordered Membrane Anchors of Rheb, RhoA, and DiRas3 Small GTPases: Molecular Dynamics, Membrane Organization, and Interactions.
Title: Intrinsically Disordered Membrane Anchors of Rheb, RhoA, and DiRas3 Small GTPases: Molecular Dynamics, Membrane Organization, and Interactions.
Unraveling the Role of Ras Homolog Enriched in Brain (Rheb1 and Rheb2): Bridging Neuronal Dynamics and Cancer Pathogenesis through Mechanistic Target of Rapamycin Signaling.
Title: Unraveling the Role of Ras Homolog Enriched in Brain (Rheb1 and Rheb2): Bridging Neuronal Dynamics and Cancer Pathogenesis through Mechanistic Target of Rapamycin Signaling.
Design of negative-regulating proteins of Rheb/mTORC1 with much-reduced sizes of the tuberous sclerosis protein complex.
Title: Design of negative-regulating proteins of Rheb/mTORC1 with much-reduced sizes of the tuberous sclerosis protein complex.
RHEB is a potential therapeutic target in T cell acute lymphoblastic leukemia.
Title: RHEB is a potential therapeutic target in T cell acute lymphoblastic leukemia.
Translation initiation factor eIF3a regulates glucose metabolism and cell proliferation via promoting small GTPase Rheb synthesis and AMPK activation.
Title: Translation initiation factor eIF3a regulates glucose metabolism and cell proliferation via promoting small GTPase Rheb synthesis and AMPK activation.
miR-199a-3p/5p regulate tumorgenesis via targeting Rheb in non-small cell lung cancer.
Title: miR-199a-3p/5p regulate tumorgenesis via targeting Rheb in non-small cell lung cancer.
Effects of mTORC1 inhibition on proteasome activity and levels.
Title: Effects of mTORC1 inhibition on proteasome activity and levels.
Silencing of SmgGDS, a Novel mTORC1 Inducer That Binds to RHEBs, Inhibits Malignant Mesothelioma Cell Proliferation.
Title: Silencing of SmgGDS, a Novel mTORC1 Inducer That Binds to RHEBs, Inhibits Malignant Mesothelioma Cell Proliferation.
Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia.
Title: Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia.
Over-expressed RHEB promotes the progression of pancreatic adenocarcinoma.
Title: Over-expressed RHEB promotes the progression of pancreatic adenocarcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (91)

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

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

RHEB (e-PCR)
- UniSTS:42281

RH18139 (e-PCR)
- UniSTS:84064

G62040 (e-PCR)
- UniSTS:139134

SHGC-37157 (e-PCR)
- UniSTS:16063

WI-22302 (e-PCR)
- UniSTS:469

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GDP binding	IBA Inferred from Biological aspect of Ancestor more info
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 GTP binding	ISS Inferred from Sequence or Structural Similarity more info
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 activity	TAS Traceable Author Statement more info
enables magnesium ion binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables protein kinase binding	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to nutrient levels	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in oligodendrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of TOR signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of TORC1 signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of oligodendrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell cycle	TAS Traceable Author Statement more info
involved_in regulation of macroautophagy	TAS Traceable Author Statement more info
involved_in regulation of type B pancreatic cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in small GTPase-mediated signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
is_active_in endomembrane system	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	TAS Traceable Author Statement more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in postsynaptic density	EXP Inferred from Experiment more info	PubMed
is_active_in postsynaptic density	IDA Inferred from Direct Assay more info	PubMed
part_of spliceosomal complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: GTP-binding protein Rheb

Names: Ras homolog enriched in brain 2

NP_005605.1

EC 3.6.5.2

XP_011514759.1

EC 3.6.5.2

XP_024302622.1

EC 3.6.5.2

XP_047276641.1

EC 3.6.5.2

XP_054214730.1

EC 3.6.5.2

XP_054214731.1

EC 3.6.5.2

XP_054214732.1

EC 3.6.5.2

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_005614.4 → NP_005605.1 GTP-binding protein Rheb

See identical proteins and their annotated locations for NP_005605.1

Status: REVIEWED

Source sequence(s)

BC016155, BG702213, BM670621, DA475169, Z29677

Consensus CDS

CCDS5927.1

UniProtKB/Swiss-Prot

B3KWN6, D3DX13, Q15382, Q53Y56, Q99444

UniProtKB/TrEMBL

A0A090N900, A8K005, Q6NZ61

Related

ENSP00000262187.5, ENST00000262187.10

Conserved Domains (1) summary

cd04137
Location:6 → 184

RheB; Ras Homolog Enriched in Brain (RheB) is a small GTPase

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

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

151466012..151519895 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011516457.3 → XP_011514759.1 GTP-binding protein Rheb isoform X1

See identical proteins and their annotated locations for XP_011514759.1

UniProtKB/TrEMBL

A8K005, Q6NZ61

Conserved Domains (1) summary

cd04137
Location:1 → 173

RheB; Ras Homolog Enriched in Brain (RheB) is a small GTPase
XM_024446854.2 → XP_024302622.1 GTP-binding protein Rheb isoform X1

UniProtKB/TrEMBL

A8K005, Q6NZ61

Conserved Domains (1) summary

cd04137
Location:1 → 173

RheB; Ras Homolog Enriched in Brain (RheB) is a small GTPase
XM_047420685.1 → XP_047276641.1 GTP-binding protein Rheb isoform X1