Gene Gene information from NCBI Gene database.
Entrez ID 6184
Gene name Ribophorin I
Gene symbol RPN1
Synonyms (NCBI Gene)
OST1RBPH1
Chromosome 3
Chromosome location 3q21.3
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-S
miRNA miRNA information provided by mirtarbase database.
201
miRTarBase ID miRNA Experiments Reference
MIRT020068 hsa-miR-375 Microarray 20215506
MIRT030197 hsa-miR-26b-5p Microarray 19088304
MIRT048357 hsa-miR-103a-3p CLASH 23622248
MIRT020068 hsa-miR-375 Luciferase reporter assayWestern blottingqRT-PCRImmunoprecipitaion (IP) 37386831
MIRT1317077 hsa-miR-1236 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674
GO:0004579 Function Dolichyl-diphosphooligosaccharide-protein glycotransferase activity TAS 15835887
GO:0005515 Function Protein binding IPI 19167329, 22988243, 25416956, 30021884, 31515488, 31831667, 32296183, 32707033, 35271311
GO:0005783 Component Endoplasmic reticulum IDA
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
180470 10381 ENSG00000163902
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P04843
Protein name Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 (Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 67 kDa subunit) (Ribophorin I) (RPN-I) (Ribophorin-1)
Protein function Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr
PDB 6S7O , 6S7T , 8B6L , 8PN9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04597 Ribophorin_I 31 457 Ribophorin I Family
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues tested. {ECO:0000269|PubMed:12887896}.
Sequence
Sequence length 607
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  N-Glycan biosynthesis
Various types of N-glycan biosynthesis
Metabolic pathways
Protein processing in endoplasmic reticulum
  Asparagine N-linked glycosylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) Myeloid Leukemia With Inv(3)(Q21q26.2) Or T(3;3)(Q21;Q26.2) Orphanet
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 35766008 Associate
★☆☆☆☆
Found in Text Mining only
Burkitt Lymphoma Burkitt`s Lymphoma BEFREE 30170727
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36378050 Associate
★☆☆☆☆
Found in Text Mining only
Coronary Arteriosclerosis Coronary Arteriosclerosis BEFREE 23314186
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease BEFREE 23314186
★☆☆☆☆
Found in Text Mining only
Coronary Disease Coronary artery disease Pubtator 23314186 Associate
★☆☆☆☆
Found in Text Mining only
Coronary heart disease Coronary Heart Disease BEFREE 23314186
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 39993959 Associate
★☆☆☆☆
Found in Text Mining only
Kidney Failure, Chronic Kidney Failure GWASCAT_DG 31178898
★☆☆☆☆
Found in Text Mining only