RHBDF1
Rhomboid 5 Homolog 1
Gene Information Card
| Symbol | RHBDF1 |
|---|---|
| Full Name | Rhomboid 5 Homolog 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 79685 ncbi.nlm.nih.gov/gene/79685 |
| Ensembl ID | ENSG00000162032 |
| UniProt ID | Q96KN1 |
| OMIM ID | 614403 |
| HGNC ID | 20578 |
| Aliases | iRhom1, RHBDL5, FLJ90013 |
Description
RHBDF1 (Rhomboid 5 Homolog 1) encodes a member of the rhomboid family of intramembrane serine proteases. The protein, also known as iRhom1, is catalytically inactive but regulates the trafficking and shedding of membrane proteins, including EGFR ligands. It plays a role in growth factor signaling, cell proliferation, and has been implicated in cancer and inflammatory responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of EGFR ligand shedding via iRhom1 promotes tumor growth | PMID: 23431171 |
| Inflammatory skin disorders | Altered ADAM17/TACE regulation affecting cytokine release | PMID: 23431171 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.2 | Low |
| Liver | 6.1 | Low |
| Kidney | 10.3 | Medium |
| Testis | 15.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.5 | Embryonic kidney |
| HeLa | 7.8 | Cervical carcinoma |
| A549 | 6.4 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown functional impact |
| c.1234G>A (p.Gly412Ser) | Missense | <0.01% | Reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; predicted loss-of-function variants are rare.
Gain of Function (GOF)
Not established; some variants may alter EGFR signaling.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase activity | • intramembrane proteolysis |
| • protein homodimerization activity | • membrane |
| • endoplasmic reticulum | • regulation of epidermal growth factor receptor signaling pathway |
Pathways
• EGFR tyrosine kinase inhibitor resistance
• ADAM17-mediated shedding of EGFR ligands
Protein Summary
The RHBDF1 protein (iRhom1) is an inactive rhomboid protease that localizes to the endoplasmic reticulum and plasma membrane. It forms complexes with ADAM17 (TACE) to regulate the shedding of EGFR ligands such as TGF-alpha and amphiregulin, thereby modulating cell proliferation and survival. iRhom1 is widely expressed and has been linked to cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RHBDF1 Knockout HEK293 Cell Line | EDC90135 | Human | 64285 | Details Get a Quote |
| RHBDF1 Knockout A-549 Cell Line | EDC07968 | Human | 64285 | Details Get a Quote |
| RHBDF1 Knockout HCT 116 Cell Line | EDJ-KQ40734 | Human | 64285 | Details Get a Quote |
| RHBDF1 Knockout HeLa Cell Line | EDJ-KQ40735 | Human | 64285 | Details Get a Quote |
| RHBDF1 & RHBDF2 Knockout HEK293 Cell Line | EDC07972 | Human | 64285 & 79651 | Details Get a Quote |
| RHBDF1 & RHBDF2 Knockout A-549 Cell Line | EDC07978 | Human | 64285 & 79651 | Details Get a Quote |
Displaying Records 1 To 6 Of 6 Records
