HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DERL1
derlin 1
Chromosome 8 · 8q24.13
NCBI Gene: 79139Ensembl: ENSG00000136986.10HGNC: HGNC:28454UniProt: E5RGY0
148PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
response to unfolded proteinretrograde protein transport, ER to cytosolprotease bindingsignal recognition particle bindingcystic fibrosisresponse to antihypertensive drugneoplasmcancer
✦AI Summary

DERL1 (derlin 1) is an endoplasmic reticulum (ER) membrane protein that functions as a critical regulator of protein quality control and cellular homeostasis. Structurally, DERL1 localizes to ER and lysosomal membranes 1 and participates in ER-associated degradation (ERAD) pathways 2, facilitating retrograde transport and ubiquitin-mediated degradation of misfolded proteins. DERL1 interacts with VCP (valosin-containing protein) and autophagy machinery to regulate protein stability and degradation dynamics 1. Beyond normal physiology, DERL1 demonstrates significant disease relevance in multiple malignancies. DERL1 is upregulated in triple-negative breast cancer, uveal melanoma, non-small-cell lung cancer, and thyroid cancer, where it promotes cell proliferation, migration, invasion, and chemoresistance 345. In oral squamous cell carcinoma, elevated DERL1 mediates cisplatin resistance in mesenchymal-like cells 6. DERL1 is also downregulated in polycystic ovary syndrome granulosa cells 7 and involved in recurrent pregnancy loss through endoplasmic reticulum stress pathways 8. Clinically, DERL1 represents a therapeutic target—VCP inhibitors and DERL1 knockdown reduce cancer progression, while miR-575 and melatonin-mediated DERL1 suppression enhances chemosensitivity 165.

Sources cited
1
DERL1 interacts with VCP and TMEM63A in ER/lysosomal membranes; VCP-DERL1 pathway promotes triple-negative breast cancer progression
PMID: 35920704
2
DERL1 is involved in ER-associated degradation (ERAD) controlling lipid droplet proteome composition
PMID: 29275994
3
DERL1 is downregulated in polycystic ovary syndrome granulosa cells with good diagnostic classification performance
PMID: 37342921
4
DERL1 knockdown represses uveal melanoma cell proliferation, migration, invasion, and enhances cisplatin chemosensitivity
PMID: 40883028
5
DERL1 mediates cisplatin resistance in mesenchymal-like CD44high oral squamous cell carcinoma cells; melatonin-miR-181c-5p axis suppresses DERL1
PMID: 34551150
6
DERL1 is transcriptionally activated by TEAD1 downstream of circTTBK2/miR-873-5p axis in non-small-cell lung cancer
PMID: 35916080
7
DERL1 is a validated key gene in endoplasmic reticulum stress and unfolded protein response pathways associated with recurrent pregnancy loss
PMID: 39923360
8
miR-575 targets DERL1 to inhibit thyroid cancer cell proliferation, migration, and invasion; DERL1 is upregulated in thyroid cancer
PMID: 37560720
Disease Associationsⓘ20
cystic fibrosisOpen Targets
0.46Moderate
response to antihypertensive drugOpen Targets
0.32Weak
neoplasmOpen Targets
0.11Weak
cancerOpen Targets
0.10Weak
breast cancerOpen Targets
0.10Suggestive
urinary bladder carcinomaOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.09Suggestive
esophageal squamous cell carcinomaOpen Targets
0.08Suggestive
gliomaOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
rheumatoid arthritisOpen Targets
0.08Suggestive
head and neck squamous cell carcinomaOpen Targets
0.08Suggestive
Uveal MelanomaOpen Targets
0.07Suggestive
renal pelvis/ureter urothelial carcinomaOpen Targets
0.07Suggestive
lung cancerOpen Targets
0.06Suggestive
response to vaccineOpen Targets
0.06Suggestive
non-alcoholic steatohepatitisOpen Targets
0.05Suggestive
breast carcinomaOpen Targets
0.05Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.04Suggestive
Alzheimer diseaseOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
AMFRProtein interaction99%AUP1Protein interaction99%HSPA5Protein interaction99%SEL1LProtein interaction99%EDEM1Protein interaction99%MARCHF6Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
73%
Lung
65%
Brain
64%
Heart
63%
Ovary
52%
Gene Interaction Network
Click a node to explore
DERL1AMFRAUP1HSPA5SEL1LEDEM1MARCHF6
PROTEIN STRUCTURE
Preparing viewer…
PDB5GLF · 2.25 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.74LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.50 [0.34–0.74]
RankingsWhere DERL1 stands among ~20K protein-coding genes
  • #3,063of 20,598
    Most Researched148 · top quartile
  • #5,768of 17,882
    Most Constrained (LOEUF)0.74
Genes detectedDERL1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
TOLLIP-mediated autophagic degradation pathway links the VCP-TMEM63A-DERL1 signaling axis to triple-negative breast cancer progression.
PMID: 35920704
Autophagy · 2023
1.00
2
A Proximity Labeling Strategy Provides Insights into the Composition and Dynamics of Lipid Droplet Proteomes.
PMID: 29275994
Dev Cell · 2018
0.90
3
Identification of the hub genes in polycystic ovary syndrome based on disease-associated molecule network.
PMID: 37342921
FASEB J · 2023
0.80
4
Knockdown of Derlin-1 Represses Cellular Oncogenic Activities in Uveal Melanoma, Enhances its Chemosensitivity to Cisplatin and Reduces Cancer Stem Cell Potential.
PMID: 40883028
Cancer Genomics Proteomics · 2025
0.70
5
Melatonin enhances cisplatin-induced cell death through inhibition of DERL1 in mesenchymal-like CD44
PMID: 34551150
J Oral Pathol Med · 2022
0.60