RPN1 - ribophorin I Gene

Homo sapiens

Also known as OST1; RBPH1

Gene ID: 6184 | Gene type: protein coding

About RPN1

Cytogenetic location: 3q21.3 Genomic coordinates (GRCh38): 3:128,619,969-128,650,818 (from NCBI)

This gene has 8 transcripts (splice variants), 213 orthologues and is associated with 63 phenotypes. Ubiquitous expression in thyroid (RPKM 116.8), placenta (RPKM 79.5) and 25 other tissues.

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]

RPN1 Products(1)

mRNA	Protein	Name
NM_002950.4	NP_002941.1	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19167329	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in protein N-linked glycosylation	IDA IDA: Inferred from direct assay	9642163	GOA
involved in protein N-linked glycosylation via asparagine	IMP IMP: Inferred from mutant phenotype	17264154	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of oligosaccharyltransferase complex	IDA IDA: Inferred from direct assay	9642163	GOA
part of oligosaccharyltransferase complex	IPI IPI: Inferred from physical interaction	31831667	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RPN1 Protein Structure

Ribophorin_I

0
100
200
300
400
500
607 a.a.

Protein Preferred Names

Protein Names

dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1

RPN-I

Related Diseases

Diseases

Alias

Acute Myeloid Leukemia With Inv3(P21;Q26.2) Or T(3;3)(P21;Q26.2)

Aml With Inv(3)(Q21q26.2) Or T(3	3)(Q21
Q26.2)	Acute Myeloid Leukemia With Inv(3)(Q21q26.2) Or T(3
3)(Q21	Q26.2)
Aml With Inv3(P21	Q26.2) Or T(3
3)(P21	Q26.2)
Aml With Inv3(Q21	Q26.2) Or T(3
3)(Q21	Q26.2)
Acute Myeloid Leukemia With Inv3(Q21	Q26.2) Or T(3
3)(Q21	Q26.2)

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive	Autosomal Recessive Mental Retardation
Autosomal Recessive Non-Syndromic Mental Retardation	Autosomal Recessive Non-Syndromic Intellectual Disability

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12210	RPN1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	RPN1	VGNC	VGNC:76924
Rattus norvegicus	RPN1	RGD	RGD:3594
Canis familiaris	RPN1	VGNC	VGNC:45721
Felis catus	RPN1	VGNC	VGNC:64741
Mus musculus	RPN1	MGD	MGI:98084

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