RHBDD1
Rhomboid Domain Containing 1
Gene Information Card
| Symbol | RHBDD1 |
|---|---|
| Full Name | Rhomboid Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q36.1 |
| NCBI Gene ID | 84236 ncbi.nlm.nih.gov/gene/84236 |
| Ensembl ID | ENSG00000144452 |
| UniProt ID | Q8TEB9 |
| OMIM ID | 614714 |
| HGNC ID | 26129 |
| Aliases | RHBDL6, CGI-86, dJ1181N3.1 |
Description
RHBDD1 (Rhomboid Domain Containing 1) encodes a member of the rhomboid family of intramembrane serine proteases. The protein localizes to the endoplasmic reticulum and Golgi apparatus and is involved in regulated intramembrane proteolysis, cleaving membrane-tethered substrates. RHBDD1 has been implicated in cell proliferation, apoptosis, and tumorigenesis, with elevated expression observed in several cancer types.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of RHBDD1 promotes cell proliferation and invasion; may activate EGFR signaling via cleavage of membrane-bound ligands. | PMID: 25605247 |
| Colorectal cancer | Upregulation correlates with poor prognosis; RHBDD1 knockdown reduces tumor growth in xenograft models. | PMID: 27323853 |
| Hepatocellular carcinoma | Increased expression associated with metastasis and shorter survival; potential role in EMT. | PMID: 28925394 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Liver | 6.1 | Low |
| Kidney | 5.4 | Low |
| Breast | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 | 9.3 | Breast cancer cell line |
| HepG2 | 7.1 | Hepatocellular carcinoma cell line |
| HEK293 | 6.5 | Embryonic kidney cell line |
| HeLa | 5.8 | Cervical cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497C>T (p.Ala166Val) | Missense | <0.01% (gnomAD) | Unknown functional effect; not reported in COSMIC |
| c.832G>A (p.Glu278Lys) | Missense | <0.01% (gnomAD) | Unknown functional effect; not reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in COSMIC or ClinVar.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in COSMIC or ClinVar.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase activity | • intramembrane proteolysis |
| • proteolysis | • membrane |
| • integral component of membrane | • endoplasmic reticulum |
| • Golgi apparatus |
Pathways
• Notch signaling (via rhomboid-like proteases)
• EGFR signaling (putative)
Protein Summary
RHBDD1 is a 326-amino acid intramembrane serine protease with a conserved rhomboid domain. It resides in the endoplasmic reticulum and Golgi, where it cleaves membrane-tethered substrates. The protein is implicated in cell growth and cancer progression, with overexpression observed in breast, colorectal, and liver cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RHBDD1 Knockout HEK293 Cell Line | EDJ-KQ10022 | Human | 84236 | Details Get a Quote |
| RHBDD1 Knockout A-549 Cell Line | EDJ-KQ37012 | Human | 84236 | Details Get a Quote |
| RHBDD1 Knockout HCT 116 Cell Line | EDJ-KQ37013 | Human | 84236 | Details Get a Quote |
| RHBDD1 Knockout HeLa Cell Line | EDJ-KQ37014 | Human | 84236 | Details Get a Quote |
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