• Gene id: 6009

Gene Summary

• Gene Symbol: RHEB   Gene   UCSC   Ensembl
• Aliases: RHEB2
• Gene name: Ras homolog, mTORC1 binding
• Alternate names: GTP-binding protein Rheb, Ras homolog enriched in brain 2,
• Gene location: 7q36.1 (151519894: 151466011)     Exons: 7     NC_000007.14
• Gene summary(Entrez): 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
• OMIM: 601293

Protein Summary

• Protein general information: Q15382  
  • Name: GTP binding protein Rheb (Ras homolog enriched in brain)
  • Length: 184  
  • Mass: 20497
  • Tissue specificity: Ubiquitous. Highest levels observed in skeletal and cardiac muscle. {ECO
• Sequence:

  MPQSKSRKIAILGYRSVGKSSLTIQFVEGQFVDSYDPTIENTFTKLITVNGQEYHLQLVDTAGQDEYSIFPQTYS
  IDINGYILVYSVTSIKSFEVIKVIHGKLLDMVGKVQIPIMLVGNKKDLHMERVISYEEGKALAESWNAAFLESSA
  KENQTAVDVFRRIILEAEKMDGAASQGKSSCSVM

• Structural information:
  • Interpro: IPR027417  IPR037586  IPR005225  IPR001806  IPR020849  
  • Prosite: PS51421
  • PDB: 1XTQ 1XTR 1XTS 3SEA 3T5G 5YXH 6BCU 6BSX 6BT0
  • PDBsum: 1XTQ 1XTR 1XTS 3SEA 3T5G 5YXH 6BCU 6BSX 6BT0
  • DIP: 42816
  • STRING: ENSP00000262187
• Other Databases: GeneCards:  RHEB  Malacards:  RHEB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2000074	regulation of type B pancreatic cell development	IMP	biological process
GO:0003924	GTPase activity	IBA	molecular function
GO:0005525	GTP binding	IBA	molecular function
GO:0019003	GDP binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0007264	small GTPase mediated signal transduction	IBA	biological process
GO:0032008	positive regulation of TOR signaling	IMP	biological process
GO:0005525	GTP binding	ISS	molecular function
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0032008	positive regulation of TOR signaling	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0003924	GTPase activity	TAS	molecular function
GO:0005525	GTP binding	TAS	molecular function
GO:0016020	membrane	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0003924	GTPase activity	TAS	molecular function
GO:0003924	GTPase activity	TAS	molecular function
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0007050	cell cycle arrest	TAS	biological process
GO:0016241	regulation of macroautophagy	TAS	biological process
GO:0016241	regulation of macroautophagy	TAS	biological process
GO:0016241	regulation of macroautophagy	TAS	biological process
GO:0016241	regulation of macroautophagy	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032008	positive regulation of TOR signaling	IEA	biological process
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0120163	negative regulation of cold-induced thermogenesis	IEA	biological process
GO:0048714	positive regulation of oligodendrocyte differentiation	IEA	biological process
GO:0032006	regulation of TOR signaling	IEA	biological process
GO:0019901	protein kinase binding	IEA	molecular function
GO:0000139	Golgi membrane	IEA	cellular component
GO:0012505	endomembrane system	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0120163	negative regulation of cold-induced thermogenesis	ISS	biological process
GO:0000287	magnesium ion binding	IMP	molecular function
GO:0005525	GTP binding	IMP	molecular function
GO:0019003	GDP binding	IMP	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0014069	postsynaptic density	IDA	cellular component
GO:0014069	postsynaptic density	IDA	cellular component
GO:0014069	postsynaptic density	EXP	cellular component
GO:0014069	postsynaptic density	EXP	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05168	Herpes simplex virus 1 infection
hsa04151	PI3K-Akt signaling pathway
hsa05165	Human papillomavirus infection
hsa04714	Thermogenesis
hsa05163	Human cytomegalovirus infection
hsa04150	mTOR signaling pathway
hsa04072	Phospholipase D signaling pathway
hsa04140	Autophagy - animal
hsa04910	Insulin signaling pathway
hsa04218	Cellular senescence
hsa04152	AMPK signaling pathway
hsa04919	Thyroid hormone signaling pathway
hsa05231	Choline metabolism in cancer
hsa04211	Longevity regulating pathway
P06959	CCKR signaling map
P06959	CCKR signaling map

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881