RER1 retention in endoplasmic reticulum sorting receptor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RER1provided by HGNC
Official Full Name: retention in endoplasmic reticulum sorting receptor 1provided by HGNC
Primary source: HGNC:HGNC:30309
See related: Ensembl:ENSG00000157916 MIM:620048; AllianceGenome:HGNC:30309
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: 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]
Expression: Ubiquitous expression in colon (RPKM 20.8), adrenal (RPKM 20.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.32

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (2391841..2405436)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (1831110..1845026)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (2323280..2336875)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The present study has demonstrated that RER1 enhances the progression of PC through promoting cell proliferation, migration and aggressiveness.
Title: RER1 enhances carcinogenesis and stemness of pancreatic cancer under hypoxic environment.
Study in knockout mice and genetically modified human HAP1 cell line suggests that Rer1 maintains Notch signaling by maintaining sufficient expression of the gamma-secretase complex on the cell surface and regulating neural stem cell maintenance during cerebral cortex development.
Title: Rer1-mediated quality control system is required for neural stem cell maintenance during cerebral cortex development.
RER1 is a novel and potential important mediator of elevated alphaSyn levels
Title: The ER retention protein RER1 promotes alpha-synuclein degradation via the proteasome.
Rer1p regulates the ER retention of immature or misfolded rhodopsin and modulates its intracellular trafficking through the early secretory pathway.
Title: Rer1p regulates the ER retention of immature rhodopsin and modulates its intracellular trafficking.
Charcot-Marie-Tooth disease-related PMP22 is trapped in the endoplasmic reticulum by calnexin-dependent retention and Rer1-mediated early Golgi retrieval systems and partly degraded by the Hrd1-mediated endoplasmic reticulum-associated degradation system.
Title: Rer1 and calnexin regulate endoplasmic reticulum retention of a peripheral myelin protein 22 mutant that causes type 1A Charcot-Marie-Tooth disease.
Rer1p depletion reduced ciliary length and function by increasing gamma-secretase complex assembly and activity and, consequently, enhancing Notch signaling as well as reducing Foxj1a expression.
Title: Rer1p maintains ciliary length and signaling by regulating γ-secretase activity and Foxj1a levels.
Synoviolin up-regulates amyloid beta production by targeting a negative regulator of gamma-secretase, Rer1, for degradation.
Title: The ubiquitin ligase synoviolin up-regulates amyloid β production by targeting a negative regulator of γ-secretase, Rer1, for degradation.
RER1 modulates amyloid-beta production by altering trafficking of gamma-secretase and amyloid precursor protein.
Title: Retention in endoplasmic reticulum 1 (RER1) modulates amyloid-β (Aβ) production by altering trafficking of γ-secretase and amyloid precursor protein (APP).
Downregulation of Rer1 leads to increased surface localization of Pen2, whereas overexpression of Rer1 stabilizes unassembled Pen2. Rer1 is the first identified interaction partner of mammalian transmembrane-based retention/retrieval signals.
Title: Endoplasmic reticulum retention of the gamma-secretase complex component Pen2 by Rer1.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope transmembrane glycoprotein gp41	env	HIV-1 gp41 is identified to have a physical interaction with retention in endoplasmic reticulum 1 homolog (RER1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH11651 (e-PCR)
- UniSTS:58669

STS-AA029578 (e-PCR)
- UniSTS:80967

PEX10_1028 (e-PCR)
- UniSTS:277580

PEX10_V285 (e-PCR)
- UniSTS:277580

SHGC-74114 (e-PCR)
- UniSTS:1967

SHGC-30638 (e-PCR)
- UniSTS:38847

G43268 (e-PCR)
- UniSTS:94912

SHGC-74082 (e-PCR)
- UniSTS:5063

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acetylcholine receptor binding	IEA Inferred from Electronic Annotation more info
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in positive regulation of protein localization to plasma membrane	IEA Inferred from Electronic Annotation more info
involved_in protein retention in ER lumen	IBA Inferred from Biological aspect of Ancestor more info
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
involved_in skeletal muscle acetylcholine-gated channel clustering	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
is_active_in Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum-Golgi intermediate compartment	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein RER1

Names: RER1 retention in endoplasmic reticulum 1 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.