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Aliases for RPN1 Gene

Aliases for RPN1 Gene

  • Ribophorin I 2 3 4 5
  • Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase 67 KDa Subunit 3 4
  • Oligosaccharyltransferase Complex Subunit (Non-Catalytic) 2 3
  • Ribophorin-1 3 4
  • RPN-I 3 4
  • Dolichyl-Diphosphooligosaccharide-Protein Glycosyltransferase 67 KDa Subunit 3
  • Oligosaccharyltransferase 1 Homolog (S. Cerevisiae) 2
  • Oligosaccharyltransferase 1 Homolog 3
  • EC 2.4.1.119 63
  • EC 2.4.99.18 4
  • RBPH1 3
  • OST1 3

External Ids for RPN1 Gene

Previous GeneCards Identifiers for RPN1 Gene

  • GC03M125171
  • GC03M128535
  • GC03M129620
  • GC03M129659
  • GC03M129821
  • GC03M128338
  • GC03M125722

Summaries for RPN1 Gene

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. Diseases associated with RPN1 include acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2). Among its related pathways are Gene Expression and Metabolism. GO annotations related to this gene include poly(A) RNA binding and dolichyl-diphosphooligosaccharide-protein glycotransferase activity.

UniProtKB/Swiss-Prot for RPN1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPN1 Gene

Genomics for RPN1 Gene

Regulatory Elements for RPN1 Gene

Promoters for RPN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RPN1 on UCSC Golden Path with GeneCards custom track

Genomic Location for RPN1 Gene

Chromosome:
3
Start:
128,619,970 bp from pter
End:
128,681,075 bp from pter
Size:
61,106 bases
Orientation:
Minus strand

Genomic View for RPN1 Gene

Genes around RPN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPN1 Gene

Proteins for RPN1 Gene

  • Protein details for RPN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04843-RPN1_HUMAN
    Recommended name:
    Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1
    Protein Accession:
    P04843
    Secondary Accessions:
    • B2R5Z0
    • D3DNB6
    • Q68DT1

    Protein attributes for RPN1 Gene

    Size:
    607 amino acids
    Molecular mass:
    68569 Da
    Quaternary structure:
    • 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.

neXtProt entry for RPN1 Gene

Proteomics data for RPN1 Gene at MOPED

Post-translational modifications for RPN1 Gene

  • Ubiquitination at Lys 187, Lys 281, Lys 474, Lys 488, Lys 538, and Lys 559
  • Glycosylation at Asn 299
  • Modification sites at PhosphoSitePlus

Other Protein References for RPN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for RPN1 Gene

Gene Families for RPN1 Gene

Protein Domains for RPN1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P04843

UniProtKB/Swiss-Prot:

RPN1_HUMAN :
  • Belongs to the OST1 family.
Family:
  • Belongs to the OST1 family.
genes like me logo Genes that share domains with RPN1: view

Function for RPN1 Gene

Molecular function for RPN1 Gene

GENATLAS Biochemistry:
ribophorin I,68.6kDa,component with RPN2 and DDOST,of N-oligosaccharyl transferase
UniProtKB/Swiss-Prot CatalyticActivity:
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.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for RPN1 Gene

Gene Ontology (GO) - Molecular Function for RPN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22988243
genes like me logo Genes that share ontologies with RPN1: view
genes like me logo Genes that share phenotypes with RPN1: view

Animal Model Products

miRNA for RPN1 Gene

miRTarBase miRNAs that target RPN1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RPN1 Gene

Localization for RPN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RPN1 Gene

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
Jensen Localization Image for RPN1 Gene COMPARTMENTS Subcellular localization image for RPN1 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 2
cytoskeleton 1
cytosol 1
extracellular 1
golgi apparatus 1
lysosome 1
mitochondrion 1
peroxisome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for RPN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005791 rough endoplasmic reticulum IEA,ISS --
GO:0008250 oligosaccharyltransferase complex TAS 15835887
GO:0016020 membrane IDA 19946888
GO:0042470 melanosome IEA --
genes like me logo Genes that share ontologies with RPN1: view

Pathways & Interactions for RPN1 Gene

genes like me logo Genes that share pathways with RPN1: view

Pathways by source for RPN1 Gene

UniProtKB/Swiss-Prot P04843-RPN1_HUMAN

  • Pathway: Protein modification; protein glycosylation.

SIGNOR curated interactions for RPN1 Gene

Activates:

Gene Ontology (GO) - Biological Process for RPN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006614 SRP-dependent cotranslational protein targeting to membrane TAS --
GO:0010467 gene expression TAS --
GO:0018279 protein N-linked glycosylation via asparagine TAS 15835887
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with RPN1: view

Drugs & Compounds for RPN1 Gene

(2) Drugs for RPN1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Asparagine Approved Nutra 0

(2) Additional Compounds for RPN1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dolichyl diphosphate
  • Dolichyl diphosphate
37247-98-6
genes like me logo Genes that share compounds with RPN1: view

Transcripts for RPN1 Gene

Unigene Clusters for RPN1 Gene

Ribophorin I:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RPN1 Gene

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: - - -
SP6: - - -
SP7: - -
SP8: - - - - - -
SP9: -
SP10: -
SP11:

Relevant External Links for RPN1 Gene

GeneLoc Exon Structure for
RPN1
ECgene alternative splicing isoforms for
RPN1

Expression for RPN1 Gene

mRNA expression in normal human tissues for RPN1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RPN1 Gene



SOURCE GeneReport for Unigene cluster for RPN1 Gene Hs.518244

mRNA Expression by UniProt/SwissProt for RPN1 Gene

P04843-RPN1_HUMAN
Tissue specificity: Expressed in all tissues tested.
genes like me logo Genes that share expression patterns with RPN1: view

Protein tissue co-expression partners for RPN1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein differential expression in normal tissues for RPN1 Gene

Orthologs for RPN1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RPN1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RPN1 35
  • 86.71 (n)
  • 94.55 (a)
-- 36
  • 83 (a)
OneToMany
RPN1 36
  • 93 (a)
OneToMany
dog
(Canis familiaris)
Mammalia RPN1 35
  • 91.93 (n)
  • 96.21 (a)
RPN1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rpn1 35
  • 87.86 (n)
  • 95.06 (a)
Rpn1 16
Rpn1 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RPN1 35
  • 99.73 (n)
  • 99.51 (a)
RPN1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rpn1 35
  • 88.76 (n)
  • 95.59 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 87 (a)
OneToMany
-- 36
  • 79 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 88 (a)
OneToMany
-- 36
  • 64 (a)
OneToMany
chicken
(Gallus gallus)
Aves RPN1 35
  • 78.96 (n)
  • 88.76 (a)
RPN1 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RPN1 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC76266 35
rpn1 35
  • 74.77 (n)
  • 81.55 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC52808 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
rpn1 35
  • 69.47 (n)
  • 73.15 (a)
rpn1 36
  • 71 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8469 35
fruit fly
(Drosophila melanogaster)
Insecta rho-5 37
  • 45 (a)
CG33303 35
  • 55.22 (n)
  • 47.76 (a)
CG33303 36
  • 45 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010174 35
  • 56.53 (n)
  • 53.44 (a)
worm
(Caenorhabditis elegans)
Secernentea T22D1.4 37
  • 41 (a)
ribo-1 35
  • 49.8 (n)
  • 44.14 (a)
ribo-1 36
  • 39 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OST1 36
  • 25 (a)
OneToOne
OST1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G76400 35
  • 47.04 (n)
  • 36.2 (a)
rice
(Oryza sativa)
Liliopsida Os05g0301500 35
  • 47.45 (n)
  • 35.07 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4362 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2016 36
  • 51 (a)
OneToOne
Species with no ortholog for RPN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RPN1 Gene

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

Paralogs for RPN1 Gene

No data available for Paralogs for RPN1 Gene

Variants for RPN1 Gene

Sequence variations from dbSNP and Humsavar for RPN1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1697 -- 128,638,009(-) CATCC(A/G)TATCC reference, synonymous-codon
rs14560 -- 128,620,384(-) GGGCC(C/T)AGGGT utr-variant-3-prime
rs1126828 -- 128,625,943(-) CTGGA(C/T)ACATT reference, synonymous-codon
rs1126829 -- 128,625,572(-) TCACC(A/C/G/T)TTATC reference, missense
rs1127020 -- 128,620,213(-) ttttt(A/T)aaaaa utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for RPN1 Gene

Variant ID Type Subtype PubMed ID
dgv1494e1 CNV Complex 17122850
essv17207 CNV CNV 17122850
nsv10319 CNV Gain 18304495
nsv508952 CNV Insertion 20534489
esv2725894 CNV Deletion 23290073
dgv36n50 OTHER Inversion 21212237
nsv3994 CNV Insertion 18451855
nsv511200 CNV Loss 21212237
nsv433360 CNV Gain 18776910

Variation tolerance for RPN1 Gene

Residual Variation Intolerance Score: 24% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.00; 49.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RPN1 Gene

HapMap Linkage Disequilibrium report
RPN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPN1 Gene

Disorders for RPN1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RPN1 Gene - From: Orphanet

Disorder Aliases PubMed IDs
acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)
  • aml with inv3(p21;q26.2) or t(3;3)(p21;q26.2)
- elite association - COSMIC cancer census association via MalaCards
Search RPN1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RPN1

Genetic Association Database (GAD)
RPN1
Human Genome Epidemiology (HuGE) Navigator
RPN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RPN1
genes like me logo Genes that share disorders with RPN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RPN1 Gene

Publications for RPN1 Gene

  1. Polymorphisms in mitochondrial genes and prostate cancer risk. (PMID: 19064571) Wang L. … Thibodeau S.N. (Cancer Epidemiol. Biomarkers Prev. 2008) 3 48 67
  2. Ribophorin I regulates substrate delivery to the oligosaccharyltransferase core. (PMID: 18607003) Wilson C.M. … High S. (Proc. Natl. Acad. Sci. U.S.A. 2008) 3 23
  3. Ribophorin I acts as a substrate-specific facilitator of N-glycosylation. (PMID: 17264154) Wilson C.M. … High S. (J. Cell. Sci. 2007) 3 23
  4. Retention of subunits of the oligosaccharyltransferase complex in the endoplasmic reticulum. (PMID: 10660554) Fu J. … Kreibich G. (J. Biol. Chem. 2000) 3 23
  5. Activation of a novel gene in 3q21 and identification of intergenic fusion transcripts with ecotropic viral insertion site I in leukemia. (PMID: 9307271) Pekarsky Y. … Gardiner K. (Cancer Res. 1997) 3 23

Products for RPN1 Gene

Sources for RPN1 Gene

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