RER1 Gene

Name	retention in endoplasmic reticulum sorting receptor 1
Description	The protein encoded by this gene is a multi-pass membrane protein that is localized to the golgi apparatus. It is involved in the retention of endoplasmic reticulum (ER) membrane proteins in the ER and retrieval of ER membrane proteins from the early Golgi compartment to facilitate gamma-secretase complex assembly. [provided by RefSeq, Oct 2009]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nRER1 functions as a key quality control receptor in the early secretory pathway. It interacts directly with unassembled or immature membrane protein components—including crucial subunits of the γ‑secretase complex such as Pen2 and nicastrin—to retain and retrieve them in the endoplasmic reticulum and cis‐Golgi. This activity modulates the assembly and surface expression of the γ‑secretase complex, thereby influencing the production of amyloid β‑peptide, regulating Notch signaling, and impacting neural development and ciliogenesis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its role in complex assembly, RER1 acts as a retrieval receptor for misfolded or mutant transmembrane proteins. By binding to such proteins—for example, certain disease‐associated mutants of peripheral myelin protein 22 (PMP22) and rhodopsin—it prevents their premature exit from the ER, thereby limiting the accumulation of deleterious protein species that contribute to conditions such as Charcot–Marie–Tooth neuropathy and photoreceptor degeneration."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMoreover, RER1 has emerged as an important modulator of proteins linked to neurodegenerative diseases. Overexpression of a functional RER1 decreases levels of α‑synuclein—likely via enhanced targeting to the ubiquitin–proteasome system—thereby suggesting a potential protective mechanism in disorders such as Parkinson disease. Ongoing studies continue to explore RER1’s broader involvement in the ER retention of various disease‐related proteins."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Christoph Kaether, Johanna Scheuermann, Matthias Fassler, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Endoplasmic reticulum retention of the gamma-secretase complex component Pen2 by Rer1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO Rep (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.embor.7401027"}], "href": "https://doi.org/10.1038/sj.embor.7401027"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17668005"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17668005"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Chiaki Tanabe, Tomoji Maeda, Kun Zou, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The ubiquitin ligase synoviolin up-regulates amyloid β production by targeting a negative regulator of γ-secretase, Rer1, for degradation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M112.365296"}], "href": "https://doi.org/10.1074/jbc.M112.365296"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23129766"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23129766"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Nathalie Jurisch-Yaksi, Applonia J Rose, Huiqi Lu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Rer1p maintains ciliary length and signaling by regulating γ-secretase activity and Foxj1a levels."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.201208175"}], "href": "https://doi.org/10.1083/jcb.201208175"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23479743"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23479743"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Ji-Young Seo, Youngseob Jung, Do-Yeon Kim, et al. "}, {"type": "b", "children": [{"type": "t", "text": "DAP5 increases axonal outgrowth of hippocampal neurons by enhancing the cap-independent translation of DSCR1.4 mRNA."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Death Dis (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41419-018-1299-x"}], "href": "https://doi.org/10.1038/s41419-018-1299-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30718468"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30718468"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Akinori Yamasaki, Taichi Hara, Ikuko Maejima, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Rer1p regulates the ER retention of immature rhodopsin and modulates its intracellular trafficking."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/srep05973"}], "href": "https://doi.org/10.1038/srep05973"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25096327"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25096327"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Taichi Hara, Yukiko Hashimoto, Tomoko Akuzawa, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Rer1 and calnexin regulate endoplasmic reticulum retention of a peripheral myelin protein 22 mutant that causes type 1A Charcot-Marie-Tooth disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/srep06992"}], "href": "https://doi.org/10.1038/srep06992"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25385046"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25385046"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Hyo-Jin Park, Daniel Ryu, Mayur Parmar, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The ER retention protein RER1 promotes alpha-synuclein degradation via the proteasome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0184262"}], "href": "https://doi.org/10.1371/journal.pone.0184262"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28877262"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28877262"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Shi Chen, Jiaqiang Zhang, Jiangzhi Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "RER1 enhances carcinogenesis and stemness of pancreatic cancer under hypoxic environment."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Exp Clin Cancer Res (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s13046-018-0986-x"}], "href": "https://doi.org/10.1186/s13046-018-0986-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30630537"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30630537"}]}]}]}
Proteins	RER1_HUMAN
NCBI Gene ID	11079
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

RER1 has 6,169 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 116 datasets.

Click the + buttons to view associations for RER1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

RER1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of RER1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of RER1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of RER1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of RER1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of RER1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of RER1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of RER1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of RER1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of RER1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of RER1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of RER1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of RER1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with RER1 protein from the CCLE Cell Line Proteomics dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of RER1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of RER1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of RER1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with RER1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing RER1 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of RER1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing RER1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing RER1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing RER1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing RER1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with RER1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with RER1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of RER1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with RER1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with RER1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with RER1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of RER1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by RER1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with RER1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with RER1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with RER1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with RER1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with RER1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at RER1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of RER1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of RER1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing RER1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.