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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RER1
retention in endoplasmic reticulum sorting receptor 1
Chromosome 1 · 1p36.32
NCBI Gene: 11079Ensembl: ENSG00000157916.21HGNC: HGNC:30309UniProt: O15258
71PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingretrograde vesicle-mediated transport, Golgi to endoplasmic reticulumGolgi apparatuscis-Golgi networkperoxisome biogenesis disorder 6A (Zellweger)Peroxisome biogenesis disorder-Zellweger syndrome spectrumatrial flutteratrial fibrillation
✦AI Summary

RER1 (retention in endoplasmic reticulum sorting receptor 1) is a Golgi-localized sorting receptor that mediates retrograde retrieval of endoplasmic reticulum (ER) membrane proteins from the early Golgi compartment 1. The protein contains four transmembrane domains with a W-topology and localizes to the Golgi apparatus and ER-Golgi interface 1. Mechanistically, RER1 functions as a quality control receptor that retains and retrieves select cargo proteins, including unassembled immunoreceptor complexes and disease-related proteins. It interacts with DAP12 before assembly with TREM2, preventing premature plasma membrane transport 2. RER1 also regulates ER retention of PMP22 mutants causing Charcot-Marie-Tooth disease, working synergistically with calnexin and ubiquitin ligases in ER-associated degradation 3. Beyond protein trafficking, RER1 plays broader cellular roles: it maintains γ-secretase complex surface expression critical for Notch signaling during neural stem cell development 4, and regulates lipid metabolism in myeloid cells, controlling lipid droplet accumulation and metabolic gene expression 5. RER1 deletion impairs phagocytic activity and TREM2-DAP12 immune receptor signaling 2. Clinically, RER1 dysregulation associates with cancer progression—elevated expression enhances pancreatic cancer carcinogenesis under hypoxia 6, and RER1 variants correlate with ERBB2-driven breast cancer susceptibility and chemotherapy response 7. RER1 also appears in colorectal cancer prognostic signatures predicting survival and immune microenvironment composition 8.

Sources cited
1
RER1 localizes to Golgi apparatus with four transmembrane domains in W-topology; human RER1 complements yeast RER1 deletion
PMID: 9309388
2
RER1 interacts with unassembled DAP12 in ER/ERGIC; RER1 deletion impairs TREM2-DAP12 complex formation and macrophage phagocytosis
PMID: 39008111
3
RER1 deficiency causes lipid droplet accumulation in monocytes/macrophages; RER1 regulates lipid metabolism genes and proteins
PMID: 40802025
4
RER1 maintains γ-secretase complex surface expression for Notch signaling; Rer1 loss reduces neural stem cells and causes cerebral cortex malformation
PMID: 30260951
5
RER1 interacts with PMP22 wild-type and mutants; Rer1 knockdown releases CMT-associated PMP22(L16P) from ER in synergy with calnexin loss
PMID: 25385046
6
RER1 expression correlates with pancreatic cancer progression; RER1 knockdown inhibits cell proliferation, migration and tumor formation under hypoxia
PMID: 30630537
7
RER1 identified in GWAS-derived gene signature predicting ERBB2+ breast cancer susceptibility and chemotherapy response
PMID: 39067134
8
RER1 included in pyroptosis-related gene signature predicting colorectal cancer prognosis and immune microenvironment
PMID: 39155627
Disease Associationsⓘ20
peroxisome biogenesis disorder 6A (Zellweger)Open Targets
0.19Weak
Peroxisome biogenesis disorder-Zellweger syndrome spectrumOpen Targets
0.19Weak
atrial fibrillationOpen Targets
0.15Weak
atrial flutterOpen Targets
0.15Weak
peroxisome biogenesis disorder 1A (Zellweger)Open Targets
0.12Weak
pachyonychia congenitaOpen Targets
0.07Suggestive
Distal myopathy, Nonaka typeOpen Targets
0.05Suggestive
coronary artery diseaseOpen Targets
0.05Suggestive
Parkinson diseaseOpen Targets
0.05Suggestive
exercise intolerance, riboflavin-responsiveOpen Targets
0.04Suggestive
Proximal spinal muscular atrophy type 4Open Targets
0.04Suggestive
spinal muscular atrophy, type IVOpen Targets
0.04Suggestive
myopathy, distal, 6, adult-onset, autosomal dominantOpen Targets
0.04Suggestive
osteoarthritisOpen Targets
0.04Suggestive
amyotrophic lateral sclerosisOpen Targets
0.04Suggestive
amyotrophic lateral sclerosis type 20Open Targets
0.04Suggestive
familial amyotrophic lateral sclerosisOpen Targets
0.04Suggestive
tubular aggregate myopathyOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
autosomal recessive limb-girdle muscular dystrophy type 2LOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KDELR2Shared pathway100%KDELR3Shared pathway100%PREBProtein interaction87%KDELR1Protein interaction82%PSENENProtein interaction80%SURF4Protein interaction72%
Tissue Expression6 tissues
Liver
100%
Lung
51%
Ovary
49%
Heart
37%
Brain
36%
Bone Marrow
26%
Gene Interaction Network
Click a node to explore
RER1KDELR2KDELR3PREBKDELR1PSENENSURF4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O15258
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.64LoF Tolerant
pLIⓘ
0.81Intermediate
Observed/Expected LoF0.30 [0.16–0.64]
RankingsWhere RER1 stands among ~20K protein-coding genes
  • #6,670of 20,598
    Most Researched71
  • #4,514of 17,882
    Most Constrained (LOEUF)0.64
Genes detectedRER1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
DAP12 interacts with RER1 and is retained in the secretory pathway before assembly with TREM2.
PMID: 39008111
Cell Mol Life Sci · 2024
1.00
2
RER1 regulates lipid metabolism in monocytes and macrophages.
PMID: 40802025
Cell Mol Life Sci · 2025
0.90
3
Human Rer1 is localized to the Golgi apparatus and complements the deletion of the homologous Rer1 protein of Saccharomyces cerevisiae.
PMID: 9309388
Eur J Cell Biol · 1997
0.80
4
A susceptibility gene signature for ERBB2-driven mammary tumour development and metastasis in collaborative cross mice.
PMID: 39067134
EBioMedicine · 2024
0.70
5
RER1 enhances carcinogenesis and stemness of pancreatic cancer under hypoxic environment.
PMID: 30630537
J Exp Clin Cancer Res · 2019
0.60