RER1 Retention in Endoplasmic Reticulum Sorting Receptor 1
Key regulator of ER retrieval and protein quality control
Gene Information Card
| Symbol | RER1 |
|---|---|
| Full Name | Retention in Endoplasmic Reticulum Sorting Receptor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.32 |
| NCBI Gene ID | 11079 ncbi.nlm.nih.gov/gene/11079 |
| Ensembl ID | ENSG00000157916 |
| UniProt ID | O15258 |
| OMIM ID | 609769 |
| HGNC ID | 30306 |
| Aliases | RER1, RER1A, RER1B |
Description
RER1 encodes a multi-pass transmembrane protein that functions as a sorting receptor for the retrieval of endoplasmic reticulum (ER) membrane proteins from the Golgi apparatus back to the ER. It is involved in ER quality control, maintaining ER homeostasis, and regulating the assembly of multimeric protein complexes. RER1 is ubiquitously expressed and plays a role in the retention of unassembled subunits of the T-cell receptor and other complexes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | RER1 overexpression may promote tumor growth by altering ER stress responses and protein trafficking. | COSMIC; literature review |
| Neurodegenerative disorders | Dysregulation of ER retrieval can lead to accumulation of misfolded proteins, contributing to neurodegeneration. | NCBI Gene; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Brain | 8.7 | Medium |
| Heart | 7.3 | Low |
| Lung | 9.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.3 | Embryonic kidney cells |
| HeLa | 11.8 | Cervical cancer cells |
| HepG2 | 13.0 | Liver cancer cells |
| K562 | 9.5 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96His) | Missense | <0.1% | Unknown functional impact |
| c.421C>T (p.Arg141Trp) | Missense | <0.1% | Potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants may impair ER retrieval activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • ER to Golgi vesicle-mediated transport (GO:0006888) | • retrograde vesicle-mediated transport (GO:0006890) |
| • protein retention in ER lumen (GO:0006621) | • integral component of membrane (GO:0016021) |
Pathways
• ER to Golgi anterograde transport
• Golgi-to-ER retrograde transport
• Protein processing in endoplasmic reticulum
Protein Summary
RER1 is a 23 kDa transmembrane protein with 4 predicted transmembrane domains. It localizes to the Golgi apparatus and cycles between the Golgi and ER. It binds to the dilysine motif (KKXX) on ER membrane proteins and facilitates their COPI-dependent retrieval. RER1 also interacts with the Sec61 translocon and is involved in the quality control of unassembled protein subunits.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RER1 Knockout HEK293 Cell Line | EDJ-KQ7275 | Human | 11079 | Details Get a Quote |
| RER1 Knockout A-549 Cell Line | EDJ-KQ32299 | Human | 11079 | Details Get a Quote |
| RER1 Knockout HCT 116 Cell Line | EDJ-KQ32300 | Human | 11079 | Details Get a Quote |
| RER1 Knockout HeLa Cell Line | EDJ-KQ32301 | Human | 11079 | Details Get a Quote |
