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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RPN1 Gene

protein-coding   GIFtS: 65
GCID: GC03M128338

ribophorin I
 Explore 7 diseases affiliated with
RPN1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for RPN1    

Aliases
for RPN1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Ribophorin I1 2 3     Dolichyl-Diphosphooligosaccharide-Protein Glycosyltransferase 67 KDa Subunit2
OST11 2     Oligosaccharyltransferase 1 Homolog2
Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase 67 KDa Subunit2 3     Ribophorin-13
RPN-I2 3     EC 2.4.99.183
RBPH12     Ribophorin-13
Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase Subunit 12     EC 2.4.1.1198

External Ids:    HGNC: 103811   Entrez Gene: 61842   Ensembl: ENSG000001639027   OMIM: 1804705   UniProtKB: P048433   

Export aliases for RPN1 gene to outside databases

Previous GC identifers: GC03M125171 GC03M128535 GC03M129620 GC03M129659 GC03M129821 GC03M125722


Summaries
for RPN1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for RPN1:
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)

UniProtKB/Swiss-Prot: RPN1_HUMAN, P04843
Function: Essential subunit of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high
mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr
consensus motif in nascent polypeptide chains

Gene Wiki entry for RPN1


Genomic Views
for RPN1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RPN1 gene promoter:
         Pax-6   XBP-1   MIF-1   YY1   Roaz   Evi-1   PPAR-gamma1   Zic1   PPAR-gamma2   ZIC2/Zic2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RPN1 promoter sequence
   Search SABiosciences Chromatin IP Primers for RPN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RPN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q21.3   Ensembl cytogenetic band:  3q21.3   HGNC cytogenetic band: 3q21.3

RPN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RPN1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M128338:  view genomic region     (about GC identifiers)

Start:
 128,338,813 bp from pter      End:
 128,399,918 bp from pter
Size:
 61,106 bases      Orientation:
 minus strand

Proteins
for RPN1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: RPN1_HUMAN, P04843 (See protein sequence)
Recommended Name: Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 precursor  
Size: 607 amino acids; 68569 Da
Subunit: Component of the oligosaccharyltransferase (OST) complex. OST seems to exist in different forms which contain
at least RPN1, RPN2, OST48, DAD1, OSTC, KRTCAP2 and either STT3A or STT3B. OST can form stable complexes with the
Sec61 complex or with both the Sec61 and TRAP complexes
Subcellular location: Endoplasmic reticulum membrane; Single-pass type I membrane protein. Melanosome. Note=Identified
by mass spectrometry in melanosome fractions from stage I to stage IV
Secondary accessions: B2R5Z0 D3DNB6 Q68DT1

Explore the universe of human proteins at neXtProt for RPN1: NX_P04843

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P04843

    • 4/13 DME Specific Peptides for RPN1 (P04843) (see all 13)
     EVSHWGN  GGWKTHY  NRYKQSRD  EIRPRFPL 

    RPN1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002941.1  
    ENSEMBL proteins: 
     ENSP00000296255   ENSP00000417529   ENSP00000419384  
    Reactome Protein details: P04843
    Human Recombinant Protein Products: 
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    Uscn Proteins for RPN1

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum ----
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005791rough endoplasmic reticulum ISS--
    GO:0008250oligosaccharyltransferase complex TAS15835887
    GO:0016021integral to membrane IEA--


    RPN1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for RPN1

    Protein Domains /
    Families
    for RPN1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    RPN1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR007676 Ribophorin_I

    Graphical View of Domain Structure for InterPro Entry P04843

    ProtoNet protein and cluster: P04843

    1 Blocks protein family: IPB007676 Ribophorin I

    UniProtKB/Swiss-Prot: RPN1_HUMAN, P04843
    Similarity: Belongs to the OST1 family


    Function
    for RPN1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: RPN1_HUMAN, P04843
    Function: Essential subunit of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high
    mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr
    consensus motif in nascent polypeptide chains
    Catalytic activity: Dolichyl diphosphooligosaccharide + [protein]-L-asparagine = dolichyl diphosphate + a glycoprotein
    with the oligosaccharide chain attached by N-beta-D-glycosyl linkage to a protein L-asparagine

         Genatlas biochemistry entry for RPN1:
    ribophorin I,68.6kDa,component with RPN2 and DDOST,of N-oligosaccharyl transferase

    Enzyme Numbers (IUBMB): EC 2.4.1.1192 EC 2.4.99.181

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004579contributes to dolichyl-diphosphooligosaccharide-protein glycotransferase activity TAS15835887


    RPN1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for RPN1:
     Upregulation of Wnt/beta-caten 


    Pathways & Interactions
    for RPN1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Asparagine N-linked glycosylation
    		Asparagine N-linked glycosylation1.00
    		Post-translational protein modification0.44
    		N-Glycan biosynthesis0.52
    		Metabolism of proteins0.15
    2Synthesis of PB1-F2
    		SRP-dependent cotranslational protein targeting to membrane0.77
    		Translation0.57
    3Protein processing in endoplasmic reticulum
    		Protein processing in endoplasmic reticulum1.00
    4Ubiquitinated Orc1 is degraded by the proteasome
    		Proteasome Degradation0.56
    5Generic Transcription Pathway
    		Gene Expression0.46

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for RPN1
        CFTR folding and maturation (norm and CF)

    1 BioSystems Pathway for RPN1 
        Proteasome Degradation

    5/6        Reactome Pathways for RPN1 (see all 6)
        Translation
    Asparagine N-linked glycosylation
    SRP-dependent cotranslational protein targeting to membrane
    Metabolism of proteins
    Post-translational protein modification


    3         Kegg Pathways  (Kegg details for RPN1):
        N-Glycan biosynthesis
    Metabolic pathways
    Protein processing in endoplasmic reticulum

    UniProtKB/Swiss-Prot: RPN1_HUMAN, P04843
    Pathway: Protein modification; protein glycosylation


    RPN1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RPN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/232 Interacting proteins for RPN1 (P048432, 3 ENSP000002962554) via UniProtKB, MINT, STRING, and/or I2D (see all 232)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SIGIRRQ6IA172, 3, ENSP000003336564MINT-63381 I2D: score=4 STRING: ENSP00000333656
    RBBP4Q090282, 3, ENSP000003625924MINT-63379 I2D: score=3 STRING: ENSP00000362592
    WSB2Q9NYS72, 3MINT-63383 I2D: score=4 
    KIAA0087Q146952, 3MINT-63382 I2D: score=3 
    IKBKGQ9Y6K92, 3MINT-48176 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006412translation TAS--
    GO:0006464cellular protein modification process TAS10660554
    GO:0006486protein glycosylation ----
    GO:0006614SRP-dependent cotranslational protein targeting to membrane TAS--
    GO:0010467gene expression TAS--


    RPN1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for RPN1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    RPN1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for RPN1

    2 HMDB Compounds for RPN1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Dolichyl diphosphateDolichyl diphosphate (see all 2)37247-98-6--
    L-Asparagine(-)-Asparagine (see all 32)70-47-3--
    2 Novoseek chemical compound relationships for RPN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    polysaccharide 23.7 1 12952521 (1)
    sucrose 12.8 1 2269658 (1)

    Search CenterWatch for drugs/clinical trials and news about RPN1 

    Transcripts
    for RPN1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for RPN1 gene: 
    NM_002950.3  

    Unigene Cluster for RPN1:

    Ribophorin I
    Hs.518244  [show with all ESTs]
    Unigene Representative Sequence: NM_002950
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000296255(uc003ekr.1) ENST00000497289(uc011bkq.1) ENST00000490166
    ENST00000495462 ENST00000479113 ENST00000476931 ENST00000497415 ENST00000481168


    miRNA
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    hsa-miR-2114 hsa-miR-513a-5p hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-27b
    SwitchGear 3'UTR luciferase reporter plasmid: RPN1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AK223595.1 AK296905.1 AK297513.1 AK297941.1 AK312369.1 BC007995.1 BC010839.1 CR456742.1 
    CR749284.1 

    24/41 DOTS entries (see all 41):

    DT.449068  DT.95203947  DT.95286299  DT.100880105  DT.120916820  DT.95286274  DT.100880104  DT.100694218 
    DT.120916772  DT.70100524  DT.100880110  DT.100880115  DT.100880109  DT.100880112  DT.100880118  DT.120916731 
    DT.120916749  DT.120916804  DT.120916809  DT.121632425  DT.92454498  DT.95286283  DT.100762481  DT.100805039 

    24/699 AceView cDNA sequences (see all 699):

    BU178287 CR621594 AI028172 BQ218033 BE673763 BU162664 BG163843 CF128830 
    AA478169 BP358697 BG287950 BE796178 BU857818 AW182128 AI371816 BM745936 
    AU076622 BM830994 BM468552 BQ218994 BP358169 BG819105 BE264866 BM711652 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for RPN1 (see all 11)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b
    SP1:                    -           -     -     -                                                           -                       -                     
    SP2:                                                                                                        -                                             
    SP3:                                                                                                                                -                     
    SP4:                    -           -     -     -                 -     -     -     -     -     -           -                                             
    SP5:                    -           -           -                                                                                                         


    ECgene alternative splicing isoforms for RPN1

    Expression
    for RPN1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RPN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAGGCCAGTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See RPN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RPN1

    SOURCE GeneReport for Unigene cluster: Hs.518244

    UniProtKB/Swiss-Prot: RPN1_HUMAN, P04843
    Tissue specificity: Expressed in all tissues tested

        SABiosciences Expression via Pathway-Focused PCR Arrays including RPN1: 
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    In Situ
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    Orthologs
    for RPN1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RPN1 gene from 10/34 species (see all 34)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Rpn11 , 5 ribophorin I1, 5 87.92(n)1
    95.22(a)1    		   6 (39.13 cM)5
    1039631  NM_133933.41  NP_598694.31 
     880844735 
    chicken
    (Gallus gallus)    		 Aves RPN11 ribophorin I 78.84(n)
    88.7(a)    		   416017  XM_414360.3  XP_414360.3 
    lizard
    (Anolis carolinensis)    		 Reptilia RPN16
    		 --
    		 81(a)
    		 1 ↔ 1
    		 2(164774279-164789895)
    African clawed frog
    (Xenopus laevis)    		 Amphibia MGC528082 similar to ribophorin I 78.25(n)    BC044106.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii AF533661.12   -- 74.36(n)   325561  AF533661.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta rho-53
    CG333031    		 dolichyl-diphospho-oligosaccharide-protein
    glycosyltransferase3
    CG333031    		 45(a)3
    55.53(n)1
    47.97(a)1    		   27689161  NM_205958.21  NP_995680.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea T22D1.43
    ribo-11    		 glycotransferase3
    Protein RIBO-11    		 41(a)3
    49.81(n)1
    43.35(a)1    		   IV(6910472-6912851)3
    1774561  NM_068664.51  NP_501065.21 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes OST1(YJL002C)4
    OST11    		 Alpha subunit of the oligosaccharyltransferase complex more4
    Ost1p1    		 42.48(n)1
    29.3(a)1    		   10(434651-433221)4
    8534551, 4  NP_012532.31  NP_012532.14 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT1G764001 Ribophorin I 47.08(n)
    36.46(a)    		   843972  NM_106289.4  NP_177766.1 
    rice
    (Oryza sativa)    		 Liliopsida Os05g03015001 hypothetical protein 46.63(n)
    34.59(a)    		   4338348  NM_001061669.1  NP_001055134.1 


    ENSEMBL Gene Tree for RPN1 (if available)
    TreeFam Gene Tree for RPN1 (if available) 

    Paralogs
    for RPN1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for RPN1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/660 NCBI SNPs in RPN1 are shown (see all 660)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1448021201,2
    		--128338323(+) TCCCTA/GACACA 1 -- int10--------
    rs1151408261,2
    		--128338388(+) GGGAGC/TGAACT 1 -- int11Minor allele frequency- T:0.01NA 120
    rs738648401,2
    		C,--128338538(+) ATGACT/CCACAG 1 -- int12Minor allele frequency- C:0.09WA 120
    rs126341741,2
    		C,F,H,--128338585(+) CCACTG/ACTCCA 1 -- int11Minor allele frequency- A:0.50NA 4
    rs27123811,2
    		C,F,O,A,H,--128338600(-) GCTTAG/TGTCAC 1 -- int122Minor allele frequency- T:0.34NS EA WA NA CSA 2344
    rs1888321121,2
    		--128338608(+) AGCCAC/TGTCAA 1 -- int10--------
    rs27123801,2
    		C,F,A,H,--128338661(-) CTGAGG/TTATTC 1 -- int114Minor allele frequency- T:0.12EA NA WA CSA 1850
    rs124981351,2
    		C,F,H--128338671(+) GTGTTC/TTAATA 1 -- int11Minor allele frequency- T:0.33NA 6
    rs67824071,2
    		C,F,A,H,--128338748(+) GCACTT/CGATAA 1 -- int120Minor allele frequency- C:0.17NS EA NA WA 2344
    rs792922701,2
    		C--128338876(+) AAAAAC/AACATG 1 -- ut311Minor allele frequency- A:0.50NA 2

    HapMap Linkage Disequilibrium report for RPN1 (128338813 - 128399918 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for RPN1
         3 CNVs: 7360 3447 37562

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RPN1
    DNA2.0 Custom Variant and Variant Library Synthesis for RPN1

    Disorders / Diseases
    for RPN1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    RPN1 for disorders           About GeneDecksing

    OMIM gene information: 180470    OMIM disorders: --

    7 diseases for RPN1:    About MalaCards
    myelofibrosis    myeloid leukemia    breast cancer    ataxia
    leukemia    prostatitis    neuronitis

    Human Genome Epidemiology (HuGE) Navigator: RPN1 (3 documents)

    Export disorders for RPN1 gene to outside databases

    Publications
    for RPN1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RPN1 gene, integrated from 9 sources (see all 85):
    (articles sorted by number of sources associating them with RPN1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (2006)
    2. Proteomic analysis of mammalian oligosaccharyltransferase reveals multiple subcomplexes that contain Sec61, TRAP, and two potential new subunits. (PubMed id 15835887)1, 2 Shibatani T.... Skach W.R. (2005)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Proteomic analysis of early melanosomes: identification of novel melanosomal proteins. (PubMed id 12643545)1, 2 Basrur V.... Appella E. (2003)
    5. Oligosaccharyltransferase isoforms that contain different catalytic STT3 subunits have distinct enzymatic properties. (PubMed id 12887896)1, 2 Kelleher D.J.... Gilmore R. (2003)
    6. Human ribophorins I and II: the primary structure and membrane topology of two highly conserved rough endoplasmic reticulum-specific glycoproteins. (PubMed id 3034581)1, 2 Crimaudo C.... Meyer D.I. (1987)
    7. Ribophorin I regulates substrate delivery to the oligosaccharyltransferase core. (PubMed id 18607003)1, 9 Wilson C.M....High S. (2008)
    8. Retention of subunits of the oligosaccharyltransferase complex in the endoplasmic reticulum. (PubMed id 10660554)1, 9 Fu J. and Kreibich G. (2000)
    9. Activation of a novel gene in 3q21 and identification of intergenic fusion transcripts with ecotropic viral insertion site I in leukemia. (PubMed id 9307271)1, 9 Pekarsky Y.... Gardiner K. (1997)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)

    External Searches for RPN1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing RPN1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6184 HGNC: 10381 AceView: RPN1 Ensembl:ENSG00000163902 euGenes: HUgn6184
    ECgene: RPN1 Kegg: 6184 H-InvDB: RPN1

    Other Databases showing RPN1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing RPN1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RPN1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RPN1 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for RPN1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for RPN1 gene:
    Search GeneIP for patents involving RPN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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