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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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RHBDF1
rhomboid 5 homolog 1
Chromosome 16 · 16p13.3
NCBI Gene: 64285Ensembl: ENSG00000007384.16HGNC: HGNC:20561UniProt: Q96CC6
41PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
serine-type endopeptidase activityprotein bindingcell population proliferationcell migrationneurodegenerative diseaseWolff-Parkinson-White Syndromedilated cardiomyopathyBlackfan-Diamond anemia
✦AI Summary

RHBDF1 is a multi-transmembrane endoplasmic reticulum protein that functions as a critical regulator of EGFR signaling and cellular stress responses, with significant oncogenic properties across multiple cancer types. **Primary Function:** RHBDF1 acts as a non-catalytic regulator of ADAM17 protease activity 1, facilitating the shedding and secretion of EGFR ligands, particularly TGFα 2. It does not possess protease activity itself but rather modulates protein trafficking and processing events essential for growth factor signaling. **Mechanism:** RHBDF1 operates through multiple pathways: (1) promoting clathrin-coated vesicle-dependent membrane trafficking of pro-TGFα 2; (2) stabilizing HIF1α by preventing RACK1-mediated degradation in hypoxic conditions 3; (3) upregulating PERK expression via the JNK/FoxO3 axis to support the unfolded protein response 4; and (4) protecting glycolytic enzymes from TRIM32-mediated degradation 1. **Disease Relevance:** RHBDF1 is elevated in breast, pancreatic, and melanoma cancers 561. Alternative splicing generates an inhibitory variant (RHX6) that suppresses RHBDF1 activity and is lost in cancer cells 5. RHBDF1 was identified as a glioblastoma-associated gene through proteome-wide association studies 7. **Clinical Significance:** RHBDF1 inhibition suppresses tumor growth, metastasis, and enhances immunotherapy efficacy in melanoma 1, positioning RHBDF1 as a potential therapeutic target for multiple malignancies.

Sources cited
1
RHBDF1 regulates melanoma glycolysis through protection of GPI from TRIM32-mediated degradation; RHBDF1 deficiency suppresses tumor growth and metastasis while enhancing immunotherapy efficacy
PMID: 37979663
2
RHBDF1 facilitates GPCR-mediated EGFR transactivation by promoting clathrin-coated vesicle-dependent pro-TGFα trafficking and ADAM17-dependent TGFα shedding
PMID: 30279141
3
RHBDF1 is highly elevated in breast cancer and stabilizes HIF1α by preventing RACK1-assisted oxygen-independent degradation
PMID: 24648344
4
RHBDF1 promotes PERK expression through the JNK/FoxO3 pathway to support unfolded protein response in breast cancer
PMID: 39420837
5
Alternative splicing variant RHX6 inhibits RHBDF1 activities; RHX6 is diminished in breast cancer cells while full-length RHBDF1 is elevated
PMID: 35595096
6
RHBDF1 is upregulated in pancreatic cancer relative to pancreatitis tissues and promotes progression through the SRC/YAP signaling pathway
PMID: 40056528
7
RHBDF1 was identified as a candidate gene associated with glioblastoma through proteome-wide association studies with shared causal variants
PMID: 40638267
8
RHBDF1 participates in GPCR-mediated EGFR transactivation by facilitating TGFα secretion in head and neck squamous cancer cells
PMID: 18832597
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.41Moderate
Wolff-Parkinson-White SyndromeOpen Targets
0.19Weak
dilated cardiomyopathyOpen Targets
0.18Weak
Blackfan-Diamond anemiaOpen Targets
0.10Weak
inosine triphosphatase deficiencyOpen Targets
0.10Weak
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.10Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.10Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.10Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.09Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.09Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.09Suggestive
hemoglobin D diseaseOpen Targets
0.09Suggestive
delta-beta-thalassemiaOpen Targets
0.09Suggestive
autosomal dominant sideroblastic anemiaOpen Targets
0.09Suggestive
Constitutional sideroblastic anemiaOpen Targets
0.09Suggestive
Alpha-thalassemia - myelodysplastic syndromeOpen Targets
0.08Suggestive
alpha-thalassemia-myelodysplastic syndromeOpen Targets
0.08Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ADAM17Protein interaction78%TGFAProtein interaction71%RHBDF2Shared pathway23%PAK5Shared pathway15%SIX2Shared pathway14%ANKRD45Shared pathway14%
Tissue Expression6 tissues
Ovary
100%
Lung
76%
Heart
44%
Liver
21%
Brain
4%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
RHBDF1ADAM17TGFARHBDF2PAK5SIX2ANKRD45
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96CC6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.02LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.85 [0.71–1.02]
RankingsWhere RHBDF1 stands among ~20K protein-coding genes
  • #10,070of 20,598
    Most Researched41
  • #10,048of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedRHBDF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Integrative multi-omics analysis reveal novel therapeutic targets for glioblastoma.
PMID: 40638267
Int J Surg · 2025
1.00
2
RHBDF1 deficiency suppresses melanoma glycolysis and enhances efficacy of immunotherapy by facilitating glucose-6-phosphate isomerase degradation via TRIM32.
PMID: 37979663
Pharmacol Res · 2023
0.90
3
Alternative splicing of the human rhomboid family-1 gene RHBDF1 inhibits epidermal growth factor receptor activation.
PMID: 35595096
J Biol Chem · 2022
0.80
4
RHBDF1 promotes PERK expression through the JNK/FoxO3 pathway in breast cancer cells.
PMID: 39420837
Acta Biochim Biophys Sin (Shanghai) · 2024
0.70
5
Human rhomboid family-1 gene RHBDF1 participates in GPCR-mediated transactivation of EGFR growth signals in head and neck squamous cancer cells.
PMID: 18832597
FASEB J · 2009
0.60