RPN1 ribophorin I [Homo sapiens (human)] - Gene

Summary

Official Symbol: RPN1provided by HGNC
Official Full Name: ribophorin Iprovided by HGNC
Primary source: HGNC:HGNC:10381
See related: Ensembl:ENSG00000163902 MIM:180470; AllianceGenome:HGNC:10381
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
Also known as: OST1; RBPH1
Summary: This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligosaccharides to asparagine residues found in the Asn-X-Ser/Thr consensus motif of nascent polypeptide chains. This protein forms part of the regulatory subunit of the 26S proteasome and may mediate binding of ubiquitin-like domains to this proteasome. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in thyroid (RPKM 116.8), placenta (RPKM 79.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q21.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (128619969..128650818, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (131361936..131392788, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (128338812..128369661, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

Polyubiquitin and ubiquitin-like signals share common recognition sites on proteasomal subunit Rpn1.
Title: Polyubiquitin and ubiquitin-like signals share common recognition sites on proteasomal subunit Rpn1.
Study provides evidence that Rpn1-Ser361 is a prevalent phosphosite that is required for proper assembly and activity of the 26S proteasome and identified multiple kinases, including PIM1/2/3, that can phosphorylate Rpn1-S361 and have demonstrated that UBLCP1 is a physiologically relevant phosphatase of this site. Blocking phosphorylation of Rpn1-S361 leads to slowed proliferation and mitochondrial dysfunction.
Title: Reversible phosphorylation of Rpn1 regulates 26S proteasome assembly and function.
These results clearly demonstrate that the association of malectin with ribophorin I is required to capture misfolded alpha1-antitrypsin and direct them to the degradation pathway.
Title: Association of malectin with ribophorin I is crucial for attenuation of misfolded glycoprotein secretion.
Data indicate that malectin functions by forming a complex with ribophorin I.
Title: Malectin forms a complex with ribophorin I for enhanced association with misfolded glycoproteins.
Observational study of gene-disease association. (HuGE Navigator)
Title: Polymorphisms in mitochondrial genes and prostate cancer risk.
ribophorin I can regulate the delivery of precursor proteins to the OST complex by capturing substrates and presenting them to the catalytic core.
Title: Ribophorin I regulates substrate delivery to the oligosaccharyltransferase core.

Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Genetic variation associated with circulating monocyte count in the eMERGE Network. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple loci are associated with white blood cell phenotypes. EBI GWAS Catalog EBI GWAS CatalogPubMed

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 surface glycoprotein gp120	env	Tandem affinity purification and mass spectrometry analysis identify ribophorin I (RPN1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Gag-Pol	gag-pol	Tandem affinity purification and mass spectrometry analysis identify ribophorin I (RPN1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Nef	nef	Tandem affinity purification and mass spectrometry analysis identify ribophorin I (RPN1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Pr55(Gag)	gag	Tandem affinity purification and mass spectrometry analysis identify ribophorin I (RPN1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Tat	tat	Expression of HIV-1 Tat upregulates the abundance of ribophorin I (RPN1) in the nucleoli of Jurkat T-cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH48451 (e-PCR)
- UniSTS:49930

GDB:181226 (e-PCR)
- UniSTS:155194

RH11540 (e-PCR)
- UniSTS:53850

D3S3891 (e-PCR)
- UniSTS:26536

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
contributes_to dolichyl-diphosphooligosaccharide-protein glycotransferase activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in protein N-linked glycosylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein N-linked glycosylation	NAS Non-traceable Author Statement more info	PubMed
involved_in protein N-linked glycosylation via asparagine	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein N-linked glycosylation via asparagine	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum membrane	NAS Non-traceable Author Statement more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in melanosome	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
part_of oligosaccharyltransferase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of oligosaccharyltransferase complex	IDA Inferred from Direct Assay more info	PubMed
part_of oligosaccharyltransferase complex	IPI Inferred from Physical Interaction more info	PubMed
part_of oligosaccharyltransferase complex	NAS Non-traceable Author Statement more info	PubMed
located_in rough endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1

Names: RPN-I; dolichyl-diphosphooligosaccharide-protein glycosyltransferase 67 kDa subunit; oligosaccharyltransferase 1 homolog; oligosaccharyltransferase complex subunit (non-catalytic); ribophorin-1

NP_002941.1

EC 2.4.99.18

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.