• Gene id: 121268

Gene Summary

• Gene Symbol: RHEBL1   Gene   UCSC   Ensembl
• Aliases: RHEBL1c
• Gene name: RHEB like 1
• Alternate names: GTPase RhebL1, Ras homolog enriched in brain like 1 c, ras homolog enriched in brain like-1 c, ras homolog enriched in brain-like protein 1, rheb-like protein 1, rheb2,
• Gene location: 12q13.12 (49069978: 49064675)     Exons: 8     NC_000012.12

Protein Summary

• Protein general information: Q8TAI7  
  • Name: GTPase RhebL1 (Ras homolog enriched in brain like 1 c) (RhebL1c) (Ras homolog enriched in brain like protein 1) (Rheb like protein 1) (Rheb2)
  • Length: 183  
  • Mass: 20682
  • Tissue specificity: Ubiquitously expressed. Expression increased at least 2-fold in several tumor cell lines. {ECO
• Sequence:

  MPLVRYRKVVILGYRCVGKTSLAHQFVEGEFSEGYDPTVENTYSKIVTLGKDEFHLHLVDTAGQDEYSILPYSFI
  IGVHGYVLVYSVTSLHSFQVIESLYQKLHEGHGKTRVPVVLVGNKADLSPEREVQAVEGKKLAESWGATFMESSA
  RENQLTQGIFTKVIQEIARVENSYGQERRCHLM

• Structural information:
  • Interpro: IPR027417  IPR005225  IPR001806  IPR020849  
  • Prosite: PS51421
  • PDB: 3OES
  • PDBsum: 3OES
  • STRING: ENSP00000301068
• Other Databases: GeneCards:  RHEBL1  Malacards:  RHEBL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019003	GDP binding	IBA	molecular function
GO:0005525	GTP binding	IBA	molecular function
GO:0003924	GTPase activity	IBA	molecular function
GO:0007264	small GTPase mediated signal transduction	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
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:0005515	protein binding	IPI	molecular function
GO:0012505	endomembrane system	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0005525	GTP binding	IDA	molecular function
GO:0031929	TOR signaling	IMP	biological process

Diseases

Associated diseases	References
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray