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RPN1 (ribophorin I)

Identity

Alias_symbol (synonym)OST1
HGNC (Hugo) RPN1
LocusID (NCBI) 6184
Atlas_Id 54063
Location 3q21.3  [Link to chromosome band 3q21]
Location_base_pair Starts at 128338813 and ends at 128369719 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
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) [ 4 ]
  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


External links

Nomenclature
HGNC (Hugo)RPN1   10381
Cards
Entrez_Gene (NCBI)RPN1  6184  ribophorin I
AliasesOST1; RBPH1
GeneCards (Weizmann)RPN1
Ensembl hg19 (Hinxton)ENSG00000163902 [Gene_View]  chr3:128338813-128369719 [Contig_View]  RPN1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000163902 [Gene_View]  chr3:128338813-128369719 [Contig_View]  RPN1 [Vega]
ICGC DataPortalENSG00000163902
TCGA cBioPortalRPN1
AceView (NCBI)RPN1
Genatlas (Paris)RPN1
WikiGenes6184
SOURCE (Princeton)RPN1
Genetics Home Reference (NIH)RPN1
Genomic and cartography
GoldenPath hg19 (UCSC)RPN1  -     chr3:128338813-128369719 -  3q21.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RPN1  -     3q21.3   [Description]    (hg38-Dec_2013)
EnsemblRPN1 - 3q21.3 [CytoView hg19]  RPN1 - 3q21.3 [CytoView hg38]
Mapping of homologs : NCBIRPN1 [Mapview hg19]  RPN1 [Mapview hg38]
OMIM180470   
Gene and transcription
Genbank (Entrez)AK223595 AK296905 AK297513 AK297941 AK312369
RefSeq transcript (Entrez)NM_002950
RefSeq genomic (Entrez)NC_000003 NC_018914 NT_005612 NW_004929311
Consensus coding sequences : CCDS (NCBI)RPN1
Cluster EST : UnigeneHs.603636 [ NCBI ]
CGAP (NCI)Hs.603636
Alternative Splicing GalleryENSG00000163902
Gene ExpressionRPN1 [ NCBI-GEO ]   RPN1 [ EBI - ARRAY_EXPRESS ]   RPN1 [ SEEK ]   RPN1 [ MEM ]
Gene Expression Viewer (FireBrowse)RPN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6184
GTEX Portal (Tissue expression)RPN1
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
Splice isoforms : SwissVarP04843
Catalytic activity : Enzyme2.4.99.18 [ Enzyme-Expasy ]   2.4.99.182.4.99.18 [ IntEnz-EBI ]   2.4.99.18 [ BRENDA ]   2.4.99.18 [ KEGG ]   
PhosPhoSitePlusP04843
Domains : Interpro (EBI)Ribophorin_I   
Domain families : Pfam (Sanger)Ribophorin_I (PF04597)   
Domain families : Pfam (NCBI)pfam04597   
Conserved Domain (NCBI)RPN1
DMDM Disease mutations6184
Blocks (Seattle)RPN1
SuperfamilyP04843
Human Protein AtlasENSG00000163902
Peptide AtlasP04843
HPRD01598
IPIIPI00793589   IPI01015265   IPI00025874   IPI01011639   IPI00945851   
Protein Interaction databases
DIP (DOE-UCLA)P04843
IntAct (EBI)P04843
FunCoupENSG00000163902
BioGRIDRPN1
STRING (EMBL)RPN1
ZODIACRPN1
Ontologies - Pathways
QuickGOP04843
Ontology : AmiGOdolichyl-diphosphooligosaccharide-protein glycotransferase activity  protein binding  endoplasmic reticulum membrane  rough endoplasmic reticulum  cellular protein modification process  oligosaccharyltransferase complex  membrane  integral component of membrane  protein N-linked glycosylation via asparagine  protein N-linked glycosylation via asparagine  melanosome  poly(A) RNA binding  
Ontology : EGO-EBIdolichyl-diphosphooligosaccharide-protein glycotransferase activity  protein binding  endoplasmic reticulum membrane  rough endoplasmic reticulum  cellular protein modification process  oligosaccharyltransferase complex  membrane  integral component of membrane  protein N-linked glycosylation via asparagine  protein N-linked glycosylation via asparagine  melanosome  poly(A) RNA binding  
Pathways : KEGGN-Glycan biosynthesis    Protein processing in endoplasmic reticulum   
NDEx NetworkRPN1
Atlas of Cancer Signalling NetworkRPN1
Wikipedia pathwaysRPN1
Orthology - Evolution
OrthoDB6184
GeneTree (enSembl)ENSG00000163902
Phylogenetic Trees/Animal Genes : TreeFamRPN1
HOVERGENP04843
HOGENOMP04843
Homologs : HomoloGeneRPN1
Homology/Alignments : Family Browser (UCSC)RPN1
Gene fusions - Rearrangements
Fusion : MitelmanMECOM/RPN1 [3q26.2/3q21.3]  [t(3;3)(q21;q26)]  
Fusion : MitelmanRPN1/MECOM [3q21.3/3q26.2]  [inv(3)(q21q26)]  [t(3;3)(q21;q26)]  
Fusion : MitelmanRPN1/PRDM16 [3q21.3/1p36.32]  [t(1;3)(p36;q21)]  
Fusion: TCGAMECOM 3q26.2 RPN1 3q21.3 LAML
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRPN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RPN1
dbVarRPN1
ClinVarRPN1
1000_GenomesRPN1 
Exome Variant ServerRPN1
ExAC (Exome Aggregation Consortium)RPN1 (select the gene name)
Genetic variants : HAPMAP6184
Genomic Variants (DGV)RPN1 [DGVbeta]
DECIPHER (Syndromes)3:128338813-128369719  ENSG00000163902
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]  
Mutations and Diseases : HGMDRPN1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch RPN1
DgiDB (Drug Gene Interaction Database)RPN1
DoCM (Curated mutations)RPN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RPN1 (select a term)
intoGenRPN1
Cancer3DRPN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM180470   
Orphanet22871   
MedgenRPN1
Genetic Testing Registry RPN1
NextProtP04843 [Medical]
TSGene6184
GENETestsRPN1
Huge Navigator RPN1 [HugePedia]
snp3D : Map Gene to Disease6184
BioCentury BCIQRPN1
ClinGenRPN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6184
Chemical/Pharm GKB GenePA34777
Clinical trialRPN1
Miscellaneous
canSAR (ICR)RPN1 (select the gene name)
Probes
Litterature
PubMed74 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRPN1
EVEXRPN1
GoPubMedRPN1
iHOPRPN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Nov 18 19:50:19 CET 2016

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