RHEBL1
Ras Homolog Enriched in Brain Like 1
Gene Information Card
| Symbol | RHEBL1 |
|---|---|
| Full Name | Ras Homolog Enriched in Brain Like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.12 |
| NCBI Gene ID | 121268 ncbi.nlm.nih.gov/gene/121268 |
| Ensembl ID | ENSG00000111247 |
| UniProt ID | Q8TAI7 |
| OMIM ID | 610593 |
| HGNC ID | 23383 |
| Aliases | RHEB2, RHEBL1 |
Description
RHEBL1 (Ras Homolog Enriched in Brain Like 1) is a protein-coding gene that encodes a member of the Ras superfamily of small GTPases. The protein is similar to RHEB and is involved in the regulation of cell growth, proliferation, and mTOR signaling. RHEBL1 is expressed in various tissues and has been implicated in cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered RHEBL1 expression may affect mTOR pathway activity, influencing cell growth and tumorigenesis. | COSMIC, ClinVar |
| Tuberous sclerosis complex (potential) | RHEBL1 is a homolog of RHEB, which is regulated by TSC1/TSC2; dysregulation may contribute to TSC pathology. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.2 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | Moderate expression |
| HeLa | 10.1 | Moderate expression |
| A549 | 7.8 | Low expression |
| MCF7 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.125A>G (p.Tyr42Cys) | Missense | <0.1% | Unknown functional effect; reported in COSMIC |
| c.236C>T (p.Pro79Leu) | Missense | <0.1% | Unknown functional effect; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in major databases.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in major databases.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activity | • GTP binding |
| • intracellular signal transduction | • regulation of cell growth |
| • positive regulation of TOR signaling |
Pathways
• mTOR signaling pathway
• Ras signaling pathway
Protein Summary
The RHEBL1 protein is a small GTPase of the Ras superfamily, sharing high similarity with RHEB. It localizes to the cytoplasm and is involved in activating mTORC1 signaling, thereby promoting cell growth and proliferation. The protein cycles between an active GTP-bound state and an inactive GDP-bound state, regulated by guanine nucleotide exchange factors (GEFs) and GTPase-activating proteins (GAPs).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RHEBL1 Knockout HEK293 Cell Line | EDJ-KQ7917 | Human | 121268 | Details Get a Quote |
| RHEBL1 Knockout A-549 Cell Line | EDJ-KQ33544 | Human | 121268 | Details Get a Quote |
| RHEBL1 Knockout HCT 116 Cell Line | EDJ-KQ33545 | Human | 121268 | Details Get a Quote |
| RHEBL1 Knockout HeLa Cell Line | EDJ-KQ33546 | Human | 121268 | Details Get a Quote |
