RHEB
GTP-binding protein Rheb
Also known as: RHEB_HUMAN, RHEB2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q15382
- Gene
- RHEB
- Ensembl
- ENSG00000106615
- Chromosome
- 7
- Canonical length
- 184 aa
- Protein class
- Cancer-related genes, Predicted intracellular proteins
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
184 residues, UniProt reviewed canonical sequence.
>Q15382|RHEB
1 MPQSKSRKIA ILGYRSVGKS SLTIQFVEGQ FVDSYDPTIE NTFTKLITVN GQEYHLQLVD
61 TAGQDEYSIF PQTYSIDING YILVYSVTSI KSFEVIKVIH GKLLDMVGKV QIPIMLVGNK
121 KDLHMERVIS YEEGKALAES WNAAFLESSA KENQTAVDVF RRIILEAEKM DGAASQGKSS
181 CSVMLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RHEB can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.28
- Highest tissue expression
- 184 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 184 nTPM
- cerebral cortex: 167 nTPM
- basal ganglia: 153 nTPM
- epididymis: 151 nTPM
- tongue: 150 nTPM
- amygdala: 144 nTPM
Single-cell type
- syncytiotrophoblasts: 421 nCPM
- extravillous trophoblasts: 415 nCPM
- epididymal basal cells: 406 nCPM
- megakaryocytes: 402 nCPM
- epididymal principal cells: 378 nCPM
- epididymal efferent duct absorptive cells: 311 nCPM
Immune cell
- eosinophil: 47 nTPM
- plasmacytoid DC: 47 nTPM
- MAIT T-cell: 41 nTPM
- basophil: 40 nTPM
- total PBMC: 40 nTPM
- T-reg: 37 nTPM
Brain region
- cerebral cortex: 112 nTPM
- hippocampal formation: 104 nTPM
- hypothalamus: 97 nTPM
- thalamus: 92 nTPM
- pons: 92 nTPM
- midbrain: 90 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about RHEB.
Disease | GeneticClinVar
6 pathogenic / likely-pathogenic of 31 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hemimegalencephaly
- Isolated focal cortical dysplasia type II
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.25
- gnomAD pLI
- 0.98
- gnomAD missense Z
- 2.3
- DepMap mean gene effect
- -0.75
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to nutrient levels
- negative regulation of cold-induced thermogenesis
- oligodendrocyte differentiation
- positive regulation of oligodendrocyte differentiation
- positive regulation of TOR signaling
- positive regulation of TORC1 signaling
- regulation of cell cycle
- regulation of macroautophagy
- regulation of type B pancreatic cell development
- response to virus
- signal transduction
- small GTPase-mediated signal transduction
Molecular functions
- GDP binding
- GTP binding
- GTPase activity
- magnesium ion binding
- protein kinase activator activity
- protein kinase binding
- protein serine/threonine kinase activator activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RHEB in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads RHEB as an antibody target. Whether an autoantibody or antibody against RHEB could matter depends on whether native RHEB is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RHEB is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label RHEB as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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