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RPN1 Gene

protein-coding   GIFtS: 68
GCID: GC03M128338

Ribophorin I

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ribophorin I1 2 3     Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase Subunit 12
Oligosaccharyltransferase Complex Subunit (Non-Catalytic)1 2     Dolichyl-Diphosphooligosaccharide-Protein Glycosyltransferase 67 KDa
Subunit2
Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase 67 KDa
Subunit2 3
     Oligosaccharyltransferase 1 Homolog2
RPN-I2 3     ribophorin-12
Oligosaccharyltransferase 1 Homolog (S. Cerevisiae)1     EC 2.4.99.183
OST12     Ribophorin-13
RBPH12     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


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

GeneCards Summary for RPN1 Gene:
RPN1 (ribophorin I) is a protein-coding gene. GO annotations related to this gene include dolichyl-diphosphooligosaccharide-protein glycotransferase activity.

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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_005612.17  
Regulatory elements:
   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 plasmidRPN1 promoter sequence
   Search Chromatin IP Primers for RPN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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. Also identified as part of a complex which
includes CANX, DERL1, DERL2, DDOST/OST48, RPN1, RPN2, SELK, VIMP, STT3A AND VCP. This contains known members of
the OST complex and may be a form of this complex
Secondary accessions: B2R5Z0 D3DNB6 Q68DT1

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

Explore proteomics data for RPN1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys187, Lys281, Lys474, Lys488, Lys538, Lys553, Lys559
  • Glycosylation2 at Asn299
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for RPN1 (P04843) (see all 13)
     EVSHWGN  GGWKTHY  NRYKQSRD  EIRPRFPL 


    See RPN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002941.1  
    ENSEMBL proteins: 
     ENSP00000296255   ENSP00000417529   ENSP00000419384  
    Reactome Protein details: P04843

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR007676 Ribophorin_I

    Graphical View of Domain Structure for InterPro Entry P04843

    ProtoNet protein and cluster: P04843

    1 Blocks protein domain: IPB007676 Ribophorin I

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


    Find genes that share domains with RPN1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004579contributes to dolichyl-diphosphooligosaccharide-protein glycotransferase activity TAS15835887
    GO:0005515protein binding IPI--
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with RPN1           About GenesLikeMe


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

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RPN1
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    miRNA
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    hsa-mir-375 (MIRT020068), hsa-mir-26b-5p (MIRT030197), hsa-mir-103a-3p (MIRT048357)

    Block miRNA regulation of human, mouse, rat RPN1 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate RPN1:
    hsa-miR-2114 hsa-miR-513a-5p hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-27b
    SwitchGear 3'UTR luciferase reporter plasmidRPN1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RPN1_HUMAN, P04843: Endoplasmic reticulum membrane; Single-pass type I membrane protein. Melanosome.
    Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    cytoskeleton1
    cytosol1
    extracellular1
    golgi apparatus1
    lysosome1
    mitochondrion1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    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 component of membrane IEA--

    Find genes that share ontologies with RPN1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for RPN1 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Asparagine N-linked glycosylation0.49
    Post-translational protein modification0.43
    N-Glycan biosynthesis0.49
    Metabolism of proteins0.30
    2Influenza Viral RNA Transcription and Replication
    SRP-dependent cotranslational protein targeting to membrane0.83
    Translation0.82
    3CDK-mediated phosphorylation and removal of Cdc6
    Proteasome Degradation0.57
    4Gene Expression
    Gene Expression0.40
    5Metabolism
    Metabolic pathways0.38


    Find genes that share SuperPaths with RPN1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    1 BioSystems Pathway for RPN1
        Proteasome Degradation


    2 Reactome Pathways for RPN1
        SRP-dependent cotranslational protein targeting to membrane
    Asparagine N-linked glycosylation


    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including RPN1: 

              Unfolded Protein Response in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for RPN1

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

    Selected Interacting proteins for RPN1 (P048432, 3 ENSP000002962554) via UniProtKB, MINT, STRING, and/or I2D (see all 292)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    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 
    AGPAT1Q999433I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (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--

    Find genes that share ontologies with RPN1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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 inferred 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)



    Find genes that share compounds with RPN1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    6 qRT-PCR Assays for microRNAs that regulate RPN1:
    hsa-miR-2114 hsa-miR-513a-5p hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-27b
    SwitchGear 3'UTR luciferase reporter plasmidRPN1 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat RPN1
      QuantiFast Probe-based Assays in human, mouse, rat RPN1

    Additional mRNA sequence: 

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

    Selected DOTS entries (see all 40):

    DT.449068  DT.95203947  DT.95286299  DT.100880105  DT.120916820  DT.95286274  DT.100880104  DT.100694218 
    DT.120916772  DT.70100524  DT.100880115  DT.100880109  DT.100880112  DT.100880118  DT.120916731  DT.120916749 
    DT.120916804  DT.120916809  DT.121632425  DT.95286283  DT.100762481  DT.100805039  DT.100844170  DT.100845086 

    Selected AceView cDNA sequences (see all 699):

    AA375747 BF791412 AI253541 BM848306 BM761300 BM551350 BF306512 BX475650 
    BF984123 AA478013 BQ441724 BP358267 BF035300 CB217035 BU182044 BG481342 
    BM835677 BI197006 BM711652 BE264866 AI371816 BU178287 BQ218033 BP358697 

    GeneLoc Exon Structure

    Selected 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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RPN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGGCCAGTG
    RPN1 Expression
    About this image


    RPN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 20) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    RPN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RPN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.518244

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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including RPN1: 
              Unfolded Protein Response in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
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    In Situ
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    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RPN1 gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rpn11 , 5 ribophorin I1, 5 87.86(n)1
    95.06(a)1
      6 (39.13 cM)5
    1039631  NM_133933.41  NP_598694.31 
     880844735 
    chicken
    (Gallus gallus)
    Aves RPN11 ribophorin I 78.96(n)
    88.76(a)
      416017  XM_414360.4  XP_414360.4 
    lizard
    (Anolis carolinensis)
    Reptilia RPN16
    ribophorin I
    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
    more3
    CG333031
    45(a)3
    55.22(n)1
    47.76(a)1
      27689161  NM_205958.31  NP_995680.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T22D1.43
    ribo-11
    glycotransferase3
    ribo-11
    41(a)3
    49.8(n)1
    44.14(a)1
      IV(6910472-6912851)3
    1774561  NM_068664.61  NP_501065.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes OST1(YJL002C)4 Alpha subunit of the oligosaccharyltransferase complex more   --   10(434651-433221) 853455  NP_012532.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G764001 AT1G76400 47.04(n)
    36.2(a)
      843972  NM_106289.4  NP_177766.1 
    rice
    (Oryza sativa)
    Liliopsida Os05g03015001 Os05g0301500 47.45(n)
    35.07(a)
      4338348  NM_001061669.1  NP_001055134.1 


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

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

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RPN1 (see all 816)    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
    C,F--128338388(+) GGGAGC/TGAACT 1 -- int11Minor allele frequency- T:0.01NA 120
    rs738648401,2
    C,F--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
    C--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
    rs3676511081,2
    C--128338858(+) CGCTT-/AAAAAAA 2 -- ut310--------

    HapMap Linkage Disequilibrium report for RPN1 (128338813 - 128399918 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for RPN1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2725894CNV Deletion23290073
    nsv508952CNV Insertion20534489
    nsv3994CNV Insertion18451855
    nsv511200CNV Loss21212237
    nsv10319CNV Gain18304495
    nsv433360CNV Gain18776910
    essv17207CNV CNV17122850
    dgv1494e1CNV Complex17122850
    dgv36n50OTHER Inversion21212237

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RPN1
    DNA2.0 Custom Variant and Variant Library Synthesis for RPN1

    (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.)
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    OMIM gene information: 180470    OMIM disorders: --


    Find genes that share disorders with RPN1           About GenesLikeMe

    Genetic Association Database (GAD): RPN1
    Human Genome Epidemiology (HuGE) Navigator: RPN1 (3 documents)

    Export disorders for RPN1 gene to outside databases

    (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)
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    PubMed articles for RPN1 gene, integrated from 10 sources (see all 101):
    (articles sorted by number of sources associating them with RPN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Polymorphisms in mitochondrial genes and prostate cancer risk. (PubMed id 19064571)1, 4 Wang L....Thibodeau S.N. (amp 2008)
    2. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (J. Proteome Res. 2006)
    3. 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. (Biochemistry 2005)
    4. 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. (Genome Res. 2004)
    5. Proteomic analysis of early melanosomes: identification of novel melanosomal proteins. (PubMed id 12643545)1, 2 Basrur V.... Appella E. (J. Proteome Res. 2003)
    6. Oligosaccharyltransferase isoforms that contain different catalytic STT3 subunits have distinct enzymatic properties. (PubMed id 12887896)1, 2 Kelleher D.J.... Gilmore R. (Mol. Cell 2003)
    7. 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. (EMBO J. 1987)
    8. Ribophorin I regulates substrate delivery to the oligosaccharyltransferase core. (PubMed id 18607003)1, 9 Wilson C.M....High S. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    9. Ribophorin I acts as a substrate-specific facilitator of N-glycosylation. (PubMed id 17264154)1, 9 Wilson C.M. and High S. (J. Cell. Sci. 2007)
    10. Retention of subunits of the oligosaccharyltransferase complex in the endoplasmic reticulum. (PubMed id 10660554)1, 9 Fu J. and Kreibich G. (J. Biol. Chem. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

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

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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