KDELR1
KDEL Endoplasmic Reticulum Protein Retention Receptor 1
Gene Information Card
| Symbol | KDELR1 |
|---|---|
| Full Name | KDEL Endoplasmic Reticulum Protein Retention Receptor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 10945 ncbi.nlm.nih.gov/gene/10945 |
| Ensembl ID | ENSG00000105568 |
| UniProt ID | P24390 |
| OMIM ID | 601816 |
| HGNC ID | 6304 |
| Aliases | ERD2.1, ERD2, KDEL receptor 1 |
Description
KDELR1 encodes a receptor that retrieves endoplasmic reticulum (ER) resident proteins containing a C-terminal KDEL (Lys-Asp-Glu-Leu) sequence from the Golgi apparatus back to the ER. This retrieval is essential for maintaining ER homeostasis and proper protein folding. The protein is a seven-transmembrane domain receptor localized to the Golgi and ER-Golgi intermediate compartment.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered KDELR1 expression may disrupt ER stress response and protein trafficking, contributing to tumor progression. | ClinVar, COSMIC |
| Neurodegenerative disorders | Impaired ER retention can lead to accumulation of misfolded proteins, potentially linked to conditions like Alzheimer's disease. | NCBI Gene, OMIM |
| Congenital disorders of glycosylation | Defects in ER retrieval machinery may affect glycosylation pathways. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 15.2 | Medium |
| Heart | 10.8 | Medium |
| Kidney | 14.1 | Medium |
| Lung | 11.3 | Medium |
| Pancreas | 9.7 | Low |
| Spleen | 8.4 | Low |
| Testis | 13.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 16.5 | Cervical cancer cell line |
| HEK293 | 14.8 | Embryonic kidney cells |
| HepG2 | 13.2 | Hepatocellular carcinoma |
| A549 | 12.1 | Lung carcinoma |
| MCF7 | 11.7 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.1% | Potential loss of function |
| c.100C>T | missense | <0.1% | Unknown significance |
| c.200G>A | missense | <0.1% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants may impair receptor binding or trafficking, reducing ER retrieval efficiency.
Gain of Function (GOF)
Not reported in literature or databases.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Golgi apparatus (GO:0005794) | • intracellular protein transport (GO:0006886) |
| • retrograde vesicle-mediated transport (GO:0006890) | • protein transport (GO:0015031) |
| • integral component of membrane (GO:0016021) | • transport vesicle (GO:0030133) |
| • endoplasmic reticulum unfolded protein response (GO:0030968) | • identical protein binding (GO:0042802) |
| • ER retention sequence binding (GO:0046923) |
Pathways
• Endoplasmic reticulum-Golgi intermediate compartment (ERGIC) trafficking
• KDEL receptor-mediated retrieval pathway
• Unfolded protein response (UPR)
Protein Summary
KDELR1 is a 212-amino acid multi-pass membrane protein that binds KDEL-containing proteins in the Golgi and facilitates their retrograde transport to the ER. It is ubiquitously expressed and critical for ER quality control. The protein interacts with COPI coat components and is involved in maintaining ER protein homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KDELR1 Knockout HEK293 Cell Line | EDJ-KQ7224 | Human | 10945 | Details Get a Quote |
| KDELR1 Knockout A-549 Cell Line | EDJ-KQ32188 | Human | 10945 | Details Get a Quote |
| KDELR1 Knockout HCT 116 Cell Line | EDJ-KQ32189 | Human | 10945 | Details Get a Quote |
| KDELR1 Knockout HeLa Cell Line | EDJ-KQ32190 | Human | 10945 | Details Get a Quote |
