RHBDL1
Rhomboid Like 1 (RHBDL1) is a gene encoding a serine-type intramembrane protease involved in regulated intramembrane proteolysis.
Gene Information Card
| Symbol | RHBDL1 |
|---|---|
| Full Name | Rhomboid Like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 9028 ncbi.nlm.nih.gov/gene/9028 |
| Ensembl ID | ENSG00000103269 |
| UniProt ID | Q9UBD6 |
| OMIM ID | 604158 |
| HGNC ID | 10001 |
| Aliases | RHBDL, RHBDL1, rhomboid-1 |
Description
RHBDL1 (Rhomboid Like 1) encodes a serine protease belonging to the rhomboid family of intramembrane proteases. The protein localizes to the Golgi apparatus and cleaves membrane-tethered substrates, playing roles in growth factor signaling, cell migration, and development. RHBDL1 is involved in the regulated intramembrane proteolysis of proteins such as Spitz and Keren in Drosophila, and its human ortholog participates in similar signaling pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | RHBDL1 overexpression may promote tumor cell migration and invasion through cleavage of membrane-bound substrates, altering signaling pathways. | COSMIC database reports somatic mutations in multiple cancer types. |
| Alzheimer's disease | Potential involvement in APP processing; RHBDL1 can cleave APP within its transmembrane domain, possibly contributing to amyloid-beta production. | UniProt annotation; limited direct evidence. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Medium |
| Lung | 3.8 | Low |
| Liver | 1.5 | Low |
| Kidney | 4.1 | Low |
| Testis | 6.7 | Medium |
| Placenta | 3.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 4.5 | Embryonic kidney cells |
| HeLa | 3.2 | Cervical cancer cells |
| A549 | 2.8 | Lung carcinoma cells |
| MCF7 | 1.9 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | missense | <0.01% | Unknown functional impact; reported in COSMIC |
| c.1015G>A (p.Gly339Arg) | missense | <0.01% | Unknown functional impact; 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.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase activity | • intramembrane proteolysis |
| • Golgi apparatus | • membrane |
| • proteolysis |
Pathways
• Regulated intramembrane proteolysis (RIP)
• Notch signaling (indirect)
Protein Summary
RHBDL1 is a 7-transmembrane domain serine protease that cleaves substrates within the lipid bilayer. It is synthesized as a zymogen and undergoes autocatalytic processing to generate an active enzyme. The protein is predominantly localized to the Golgi apparatus and is involved in the cleavage of membrane-tethered growth factors and receptors, thereby modulating cell signaling and development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RHBDL1 Knockout HEK293 Cell Line | EDJ-KQ6434 | Human | 9028 | Details Get a Quote |
| RHBDL1 Knockout HCT 116 Cell Line | EDJ-KQ30499 | Human | 9028 | Details Get a Quote |
| RHBDL1 Knockout HeLa Cell Line | EDJ-KQ30500 | Human | 9028 | Details Get a Quote |
| RHBDL1 Knockout A-549 Cell Line | EDJ-KQ63539 | Human | 9028 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
