Human Gene RPN1 (uc003ekr.1)
  Description: Homo sapiens ribophorin I (RPN1), mRNA.
RefSeq Summary (NM_002950): 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].
Transcript (Including UTRs)
   Position: hg19 chr3:128,338,813-128,369,719 Size: 30,907 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr3:128,339,254-128,369,643 Size: 30,390 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:128,338,813-128,369,719)mRNA (may differ from genome)Protein (607 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RPN1_HUMAN
DESCRIPTION: RecName: Full=Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1; EC=2.4.1.119; AltName: Full=Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 67 kDa subunit; AltName: Full=Ribophorin I; Short=RPN-I; AltName: Full=Ribophorin-1; Flags: Precursor;
FUNCTION: Essential subunit of N-oligosaccharyl transferase enzyme 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-glycosyl linkage to protein L- asparagine.
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.
TISSUE SPECIFICITY: Expressed in all tissues tested.
SIMILARITY: Belongs to the OST1 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): RPN1
CDC HuGE Published Literature: RPN1

-  MalaCards Disease Associations
  MalaCards Gene Search: RPN1
Diseases sorted by gene-association score: acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)* (350)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 60.01 RPKM in Cells - Cultured fibroblasts
Total median expression: 1753.21 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -41.4076-0.545 Picture PostScript Text
3' UTR -127.42441-0.289 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007676 - Ribophorin_I

Pfam Domains:
PF04597 - Ribophorin I

ModBase Predicted Comparative 3D Structure on P04843
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene Details  Gene DetailsGene DetailsGene Details
Gene Sorter  Gene SorterGene SorterGene Sorter
  EnsemblFlyBaseWormBaseSGD
  Protein SequenceProtein SequenceProtein SequenceProtein Sequence
  AlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0004579 dolichyl-diphosphooligosaccharide-protein glycotransferase activity
GO:0005515 protein binding

Biological Process:
GO:0006464 cellular protein modification process
GO:0006486 protein glycosylation
GO:0018279 protein N-linked glycosylation via asparagine

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005791 rough endoplasmic reticulum
GO:0005829 cytosol
GO:0008250 oligosaccharyltransferase complex
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0042470 melanosome


-  Descriptions from all associated GenBank mRNAs
  BC010839 - Homo sapiens ribophorin I, mRNA (cDNA clone MGC:5072 IMAGE:3461167), complete cds.
CR749284 - Homo sapiens mRNA; cDNA DKFZp686B16177 (from clone DKFZp686B16177).
AK223595 - Homo sapiens mRNA for ribophorin I variant, clone: FCC131A08.
Y00281 - Human mRNA for ribophorin I.
BC007995 - Homo sapiens, Similar to ribophorin I, clone IMAGE:3609303, mRNA, partial cds.
AK297513 - Homo sapiens cDNA FLJ50809 complete cds, highly similar to Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 67 kDa subunit precursor (EC 2.4.1.119).
JD118923 - Sequence 99947 from Patent EP1572962.
JD347126 - Sequence 328150 from Patent EP1572962.
JD273245 - Sequence 254269 from Patent EP1572962.
JD230653 - Sequence 211677 from Patent EP1572962.
AK297941 - Homo sapiens cDNA FLJ51908 complete cds, highly similar to Dolichyl-diphosphooligosaccharide--proteinglycosyltransferase 67 kDa subunit precursor (EC 2.4.1.119).
AK296905 - Homo sapiens cDNA FLJ51740 complete cds, highly similar to Dolichyl-diphosphooligosaccharide--proteinglycosyltransferase 67 kDa subunit precursor (EC 2.4.1.119).
JD270896 - Sequence 251920 from Patent EP1572962.
AK312369 - Homo sapiens cDNA, FLJ92691, Homo sapiens ribophorin I (RPN1), mRNA.
JF432331 - Synthetic construct Homo sapiens clone IMAGE:100073518 ribophorin I (RPN1) gene, encodes complete protein.
KJ897494 - Synthetic construct Homo sapiens clone ccsbBroadEn_06888 RPN1 gene, encodes complete protein.
AB527671 - Synthetic construct DNA, clone: pF1KB6179, Homo sapiens RPN1 gene for ribophorin I, without stop codon, in Flexi system.
CR456742 - Homo sapiens full open reading frame cDNA clone RZPDo834H0114D for gene RPN1, ribophorin I; complete cds, incl. stopcodon.
DQ573369 - Homo sapiens piRNA piR-41481, complete sequence.
CU679817 - Synthetic construct Homo sapiens gateway clone IMAGE:100020403 5' read RPN1 mRNA.
AF310158 - Homo sapiens ribophorin I/EVI-1 chimeric fusion protein variant (RPN1/EVI-1 fusion) mRNA, partial cds.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00510 - N-Glycan biosynthesis
hsa01100 - Metabolic pathways

Reactome (by CSHL, EBI, and GO)

Protein P04843 (Reactome details) participates in the following event(s):

R-HSA-1799326 Signal-containing nascent peptide translocates to endoplasmic reticulum
R-HSA-1799329 Signal peptidase hydrolyzes signal peptide from ribosome-associated nascent protein
R-HSA-446209 Transfer of N-glycan to the protein
R-HSA-1799339 SRP-dependent cotranslational protein targeting to membrane
R-HSA-72766 Translation
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-392499 Metabolism of proteins
R-HSA-597592 Post-translational protein modification

-  Other Names for This Gene
  Alternate Gene Symbols: B2R5Z0, D3DNB6, NM_002950, NP_002941, P04843, Q68DT1, RPN1_HUMAN
UCSC ID: uc003ekr.1
RefSeq Accession: NM_002950
Protein: P04843 (aka RPN1_HUMAN)
CCDS: CCDS3051.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_002950.3
exon count: 10CDS single in 3' UTR: no RNA size: 2372
ORF size: 1824CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3848.00frame shift in genome: no % Coverage: 98.69
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.