Atlas of Genetics and Cytogenetics in Oncology and Haematology


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RPN1 (ribophorin I)

Identity

Alias (NCBI)OST1
RBPH1
HGNC (Hugo) RPN1
HGNC Alias symbOST1
HGNC Alias nameoligosaccharyltransferase 1 homolog (S. cerevisiae)
 oligosaccharyltransferase complex subunit (non-catalytic)
LocusID (NCBI) 6184
Atlas_Id 54063
Location 3q21.3  [Link to chromosome band 3q21]
Location_base_pair Starts at 128619969 and ends at 128650818 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
MALAT1 (11q13.1)::RPN1 (3q21.3)MECOM (3q26.2)::RPN1 (3q21.3)RPLP2 (11p15.5)::RPN1 (3q21.3)
RPN1 (3q21.3)::GATAD2B (1q21.3)RPN1 (3q21.3)::MECOM (3q26.2)RPN1 (3q21.3)::PRDM16 (1p36.32)
RPN1 (3q21.3)::RPN1 (3q21.3)MECOM 3q26.2::RPN1 3q21.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Breakpoints

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 5 ]
  3q21q26 rearrangements (RPN1::MECOM) in treatment related leukemia
inv(3)(q21q26) RPN1::MECOM::t(3;3)(q21;q26) RPN1::MECOM::ins(3;3)(q26;q21q26) RPN1/MECOM
inv(3)(q21q26) RPN1::MECOM
t(1;3)(p36;q21) RPN1::PRDM16
Therapy-Related Hematopoietic Neoplasia


External links

 

Nomenclature
HGNC (Hugo)RPN1   10381
Cards
Entrez_Gene (NCBI)RPN1    ribophorin I
AliasesOST1; RBPH1
GeneCards (Weizmann)RPN1
Ensembl hg19 (Hinxton)ENSG00000163902 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163902 [Gene_View]  ENSG00000163902 [Sequence]  chr3:128619969-128650818 [Contig_View]  RPN1 [Vega]
ICGC DataPortalENSG00000163902
TCGA cBioPortalRPN1
AceView (NCBI)RPN1
Genatlas (Paris)RPN1
SOURCE (Princeton)RPN1
Genetics Home Reference (NIH)RPN1
Genomic and cartography
GoldenPath hg38 (UCSC)RPN1  -     chr3:128619969-128650818 -  3q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RPN1  -     3q21.3   [Description]    (hg19-Feb_2009)
GoldenPathRPN1 - 3q21.3 [CytoView hg19]  RPN1 - 3q21.3 [CytoView hg38]
ImmunoBaseENSG00000163902
Genome Data Viewer NCBIRPN1 [Mapview hg19]  
OMIM180470   
Gene and transcription
Genbank (Entrez)AK223595 AK296905 AK297513 AK297941 AK312369
RefSeq transcript (Entrez)NM_002950
Consensus coding sequences : CCDS (NCBI)RPN1
Gene ExpressionRPN1 [ NCBI-GEO ]   RPN1 [ EBI - ARRAY_EXPRESS ]   RPN1 [ SEEK ]   RPN1 [ MEM ]
Gene Expression Viewer (FireBrowse)RPN1 [ Firebrowse - Broad ]
GenevisibleExpression of RPN1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6184
GTEX Portal (Tissue expression)RPN1
Human Protein AtlasENSG00000163902-RPN1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP04843   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP04843  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP04843
PhosPhoSitePlusP04843
Domains : Interpro (EBI)Ribophorin_I   
Domain families : Pfam (Sanger)Ribophorin_I (PF04597)   
Domain families : Pfam (NCBI)pfam04597   
Conserved Domain (NCBI)RPN1
PDB (RSDB)6S7O    6S7T   
PDB Europe6S7O    6S7T   
PDB (PDBSum)6S7O    6S7T   
PDB (IMB)6S7O    6S7T   
Structural Biology KnowledgeBase6S7O    6S7T   
SCOP (Structural Classification of Proteins)6S7O    6S7T   
CATH (Classification of proteins structures)6S7O    6S7T   
SuperfamilyP04843
AlphaFold pdb e-kbP04843   
Human Protein Atlas [tissue]ENSG00000163902-RPN1 [tissue]
HPRD01598
Protein Interaction databases
DIP (DOE-UCLA)P04843
IntAct (EBI)P04843
BioGRIDRPN1
STRING (EMBL)RPN1
ZODIACRPN1
Ontologies - Pathways
QuickGOP04843
Ontology : AmiGORNA binding  dolichyl-diphosphooligosaccharide-protein glycotransferase activity  protein binding  endoplasmic reticulum  endoplasmic reticulum membrane  rough endoplasmic reticulum  cytosol  cellular protein modification process  protein N-linked glycosylation  oligosaccharyltransferase complex  oligosaccharyltransferase complex  oligosaccharyltransferase complex  oligosaccharyltransferase complex  membrane  integral component of membrane  protein N-linked glycosylation via asparagine  protein N-linked glycosylation via asparagine  protein N-linked glycosylation via asparagine  melanosome  
Ontology : EGO-EBIRNA binding  dolichyl-diphosphooligosaccharide-protein glycotransferase activity  protein binding  endoplasmic reticulum  endoplasmic reticulum membrane  rough endoplasmic reticulum  cytosol  cellular protein modification process  protein N-linked glycosylation  oligosaccharyltransferase complex  oligosaccharyltransferase complex  oligosaccharyltransferase complex  oligosaccharyltransferase complex  membrane  integral component of membrane  protein N-linked glycosylation via asparagine  protein N-linked glycosylation via asparagine  protein N-linked glycosylation via asparagine  melanosome  
Pathways : BIOCARTABIOCARTA_PROTEASOMEPATHWAY   
Pathways : KEGGKEGG_N_GLYCAN_BIOSYNTHESIS   
NDEx NetworkRPN1
Atlas of Cancer Signalling NetworkRPN1
Wikipedia pathwaysRPN1
Orthology - Evolution
OrthoDB6184
GeneTree (enSembl)ENSG00000163902
Phylogenetic Trees/Animal Genes : TreeFamRPN1
Homologs : HomoloGeneRPN1
Homology/Alignments : Family Browser (UCSC)RPN1
Gene fusions - Rearrangements
Fusion : MitelmanMECOM::RPN1 [3q26.2/3q21.3]  
Fusion : MitelmanRPN1::MECOM [3q21.3/3q26.2]  
Fusion : MitelmanRPN1::PRDM16 [3q21.3/1p36.32]  
Fusion : QuiverRPN1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRPN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RPN1
dbVarRPN1
ClinVarRPN1
MonarchRPN1
1000_GenomesRPN1 
Exome Variant ServerRPN1
GNOMAD BrowserENSG00000163902
Varsome BrowserRPN1
ACMGRPN1 variants
VarityP04843
Genomic Variants (DGV)RPN1 [DGVbeta]
DECIPHERRPN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRPN1 
Mutations
ICGC Data PortalRPN1 
TCGA Data PortalRPN1 
Broad Tumor PortalRPN1
OASIS PortalRPN1 [ Somatic mutations - Copy number]
Cancer Gene: CensusRPN1 
Somatic Mutations in Cancer : COSMICRPN1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DRPN1
Mutations and Diseases : HGMDRPN1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaRPN1
DgiDB (Drug Gene Interaction Database)RPN1
DoCM (Curated mutations)RPN1
CIViC (Clinical Interpretations of Variants in Cancer)RPN1
Cancer3DRPN1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM180470   
Orphanet22871   
DisGeNETRPN1
MedgenRPN1
Genetic Testing Registry RPN1
NextProtP04843 [Medical]
GENETestsRPN1
Target ValidationRPN1
Huge Navigator RPN1 [HugePedia]
ClinGenRPN1
Clinical trials, drugs, therapy
MyCancerGenomeRPN1
Protein Interactions : CTDRPN1
Pharm GKB GenePA34777
PharosP04843
Clinical trialRPN1
Miscellaneous
canSAR (ICR)RPN1
HarmonizomeRPN1
ARCHS4RPN1
DataMed IndexRPN1
Probes
Litterature
PubMed197 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXRPN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Thu Jan 20 12:56:50 CET 2022

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