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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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KDELR1
KDEL endoplasmic reticulum protein retention receptor 1
Chromosome 19 · 19q13.33
NCBI Gene: 10945Ensembl: ENSG00000105438.10HGNC: HGNC:6304UniProt: P24390
68PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
ReceptorTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
COPI-coated vesicle membraneKDEL sequence bindingprotein bindingretrograde vesicle-mediated transport, Golgi to endoplasmic reticulumdengue diseaseneurodegenerative diseasemathematical abilityovarian carcinoma
✦AI Summary

KDELR1 is a seven-transmembrane receptor localized to the Golgi apparatus and endoplasmic reticulum (ER) membranes that primarily functions in retrieving ER-resident proteins bearing the C-terminal KDEL retention sequence 1. Beyond canonical ER protein recycling, KDELR1 engages diverse signaling pathways through heterotrimeric G-proteins, including activation of protein kinase A, Src tyrosine kinase, and Rab proteins, which regulate intracellular transport, extracellular matrix degradation, and plasma membrane protrusions 1. KDELR1 facilitates cell surface trafficking of protein disulfide isomerases (PDIs), enabling their extracellular functions in modifying integrin and ADAM17 disulfide bonds 2. Disease relevance is substantial: KDELR1 is upregulated across multiple malignancies including chondrosarcoma, head and neck squamous cell carcinoma, and lung adenocarcinoma, where elevated expression correlates with poor prognosis, drug resistance, and aggressive behavior 345. In chondrosarcoma, KDELR1 drives chemotherapy resistance through the Integrin-Hippo-YAP1 axis 3, while in head and neck cancer it promotes progression via Wnt/CTNNB1 signaling and associates with immunosuppressive tumor microenvironments 4. KDELR1 knockout impairs cell adhesion and ER stress responses, indicating essential roles in cellular homeostasis 6. These findings identify KDELR1 as a promising therapeutic target in cancer.

Sources cited
1
KDELR1 is a seven-transmembrane protein in Golgi/ER membranes that activates multiple signaling pathways (PKA, Src, Rab proteins) and regulates intracellular transport, ECM degradation, and cancer progression
PMID: 40767982
2
KDELR1-dependent trafficking delivers protein disulfide isomerases to the cell surface where they modify integrin and ADAM17 function
PMID: 30958660
3
KDELR1 is elevated in chondrosarcoma and drives drug resistance and malignant behavior through the Integrin-Hippo-YAP1 axis
PMID: 39715773
4
KDELR1 upregulation in head and neck squamous cell carcinoma correlates with poor prognosis and promotes progression via Wnt/CTNNB1 signaling while associating with immunosuppressive tumor microenvironments
PMID: 39875049
5
KDELR1 is highly expressed in lung adenocarcinoma, associated with poor prognosis, and enriched in MTORC1 signaling and angiogenesis pathways
PMID: 38937522
6
KDELR1 knockout impairs cell adhesion and ER stress responses, with transcriptome analysis showing dysregulation of developmental and cell adhesion genes
PMID: 31337861
7
KDELR1 promotes FLT3-ITD-mediated STAT5 signaling in acute myeloid leukemia, and its depletion reduces leukemia disease development in mice
PMID: 23508117
8
KDELR1 upregulation by USP22 activates SRC signaling to promote extracellular vesicle secretion and lung adenocarcinoma progression
PMID: 39101247
Disease Associationsⓘ20
dengue diseaseOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.31Weak
mathematical abilityOpen Targets
0.18Weak
ovarian carcinomaOpen Targets
0.17Weak
Cowden syndrome 1Open Targets
0.08Suggestive
gliomaOpen Targets
0.07Suggestive
Okt4 epitope deficiencyOpen Targets
0.07Suggestive
isolated agammaglobulinemiaOpen Targets
0.07Suggestive
Chronic mucocutaneous candidosisOpen Targets
0.07Suggestive
combined immunodeficiency with skin granulomasOpen Targets
0.07Suggestive
immunodeficiency 79Open Targets
0.06Suggestive
reticular dysgenesisOpen Targets
0.06Suggestive
combined immunodeficiency due to ZAP70 deficiencyOpen Targets
0.06Suggestive
immunodeficiency 18Open Targets
0.06Suggestive
immunodeficiency 15aOpen Targets
0.06Suggestive
activated PI3K-delta syndromeOpen Targets
0.06Suggestive
immunodeficiency 84Open Targets
0.06Suggestive
agammaglobulinemia 8, autosomal dominantOpen Targets
0.06Suggestive
immunodeficiency 19Open Targets
0.06Suggestive
T-B+ severe combined immunodeficiency due to JAK3 deficiencyOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
STX5Protein interaction100%COPZ1Protein interaction100%ARF1Protein interaction99%ARCN1Protein interaction96%COPAProtein interaction96%COPB1Protein interaction96%
Tissue Expression6 tissues
Ovary
100%
Liver
76%
Lung
71%
Heart
52%
Brain
40%
Bone Marrow
28%
Gene Interaction Network
Click a node to explore
KDELR1STX5COPZ1ARF1ARCN1COPACOPB1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P24390
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.98LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.65 [0.44–0.98]
RankingsWhere KDELR1 stands among ~20K protein-coding genes
  • #6,908of 20,598
    Most Researched68
  • #9,342of 17,882
    Most Constrained (LOEUF)0.98
Genes detectedKDELR1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
KDELR1 regulates chondrosarcoma drug resistance and malignant behavior through Intergrin-Hippo-YAP1 axis.
PMID: 39715773
Cell Death Dis · 2024
1.00
2
A multi-omics analysis reveals KDELR1 promotes malignant progression and correlates with tumor microenvironment in head and neck squamous cell carcinoma.
PMID: 39875049
Cell Signal · 2025
0.90
3
Signalling pathways and cellular functions of KDEL receptors: implications in cancer biology.
PMID: 40767982
Cell Mol Life Sci · 2025
0.80
4
Exploring the potential biological significance of KDELR family genes in lung adenocarcinoma.
PMID: 38937522
Sci Rep · 2024
0.70
5
A genome-wide RNAi screen identifies proteins modulating aberrant FLT3-ITD signaling.
PMID: 23508117
Leukemia · 2013
0.60