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Aliases for RPN1 Gene

Aliases for RPN1 Gene

  • Ribophorin I 2 3 4 5
  • Oligosaccharyltransferase Complex Subunit (Non-Catalytic) 2 3
  • Ribophorin-1 3 4
  • RPN-I 3 4
  • Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase 67 KDa Subunit 4
  • Dolichyl-Diphosphooligosaccharide-Protein Glycosyltransferase 67 KDa Subunit 3
  • Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase Subunit 1 3
  • Oligosaccharyltransferase 1 Homolog (S. Cerevisiae) 2
  • Oligosaccharyltransferase 1 Homolog 3
  • EC 2.4.1.119 56
  • 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 Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include 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

Additional gene information for RPN1 Gene

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

Genomics for RPN1 Gene

GeneHancer (GH) Regulatory Elements for RPN1 Gene

Promoters and enhancers for RPN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I128648 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 558.3 +30.9 30879 3.2 HDGF MLX ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 KLF13 RPN1 POU5F1P6 ACAD9 PIR34480 ENSG00000277250
GH03I128679 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 550.8 +0.3 258 2.9 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 RPN1 POU5F1P6 H1FX-AS1
GH03I129178 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9.8 -501.5 -501469 8.4 PKNOX1 SMAD1 FOXA2 MLX ZFP64 ARID4B NEUROD1 SIN3A FEZF1 DMAP1 CNBP LOC105374101 ENSG00000244932 RPL32P3 ISY1 MBD4 RPS15AP16 H1FX H1FX-AS1 COPG1
GH03I128877 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.8 -198.5 -198477 3.6 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 ACAD9 PIR50406 ENSG00000244932 RPL32P3 ISY1 H1FX LOC653712 H1FX-AS1 MBD4 RPS15AP16
GH03I129277 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 9.7 -598.1 -598119 3.1 HDGF PKNOX1 ATF1 SMAD1 ARID4B SIN3A BRCA1 ZNF48 YY1 ZNF121 HMCES ISY1 MBD4 ENSG00000244932 RPL32P3 H1FX RPS15AP16 CNBP COPG1 RPN1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RPN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RPN1 gene promoter:

Genomic Locations for RPN1 Gene

Genomic Locations for RPN1 Gene
chr3:128,619,970-128,681,075
(GRCh38/hg38)
Size:
61,106 bases
Orientation:
Minus strand
chr3:128,338,813-128,399,918
(GRCh37/hg19)

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 exists in two different complex forms which contain common core subunits RPN1, RPN2, OST48, OST4, DAD1 and TMEM258, either STT3A or STT3B as catalytic subunits, and form-specific accessory subunits. OST can form stable complexes with the Sec61 complex or with both the Sec61 and TRAP complexes (By similarity).

neXtProt entry for RPN1 Gene

Selected DME Specific Peptides for RPN1 Gene

P04843:
  • NRYKQSRD
  • EIRPRFPL
  • PGSASSEAPPL
  • GGWKTHY
  • YSQDTFKVH
  • KKNLVEQHIQDIVVHYTFNKVLMLQEPLLVVAAFYILFF
  • LPVALDPGAKISV
  • EHKALTSE
  • RLAHLGVQ
  • MRVKLASRNVESYTKLGNPTRSEDLLDYGPFRDVP
  • DSPYEISRAPDELHYTYLDTFGRPVIVA
  • EVSHWGN
  • STLNSGKKSLE

Post-translational modifications for RPN1 Gene

  • Ubiquitination at posLast=187187, posLast=281281, posLast=474474, isoforms=488, posLast=538538, and posLast=559559
  • Glycosylation at isoforms=299

Other Protein References for RPN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for RPN1 Gene

Gene Families for RPN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted membrane proteins

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 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

Phenotypes From GWAS Catalog for RPN1 Gene

Gene Ontology (GO) - Molecular Function for RPN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0004579 contributes_to dolichyl-diphosphooligosaccharide-protein glycotransferase activity IEA,TAS 15835887
GO:0005515 protein binding IPI 22988243
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with RPN1: view
genes like me logo Genes that share phenotypes with RPN1: view

miRNA for RPN1 Gene

miRTarBase miRNAs that target RPN1

Clone Products

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. 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RPN1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
cytosol 5
nucleus 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RPN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA,IEA --
GO:0005789 endoplasmic reticulum membrane TAS,IEA --
GO:0005791 rough endoplasmic reticulum IEA,ISS --
GO:0005829 cytosol IDA --
GO:0008250 oligosaccharyltransferase complex TAS 15835887
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

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:0006464 cellular protein modification process TAS 10660554
GO:0006486 protein glycosylation IEA --
GO:0018279 protein N-linked glycosylation via asparagine TAS 15835887
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, Investigational 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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for RPN1 Gene

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



Protein tissue co-expression partners for RPN1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RPN1 Gene:

RPN1

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.

Evidence on tissue expression from TISSUES for RPN1 Gene

  • Nervous system(5)
  • Liver(4.6)
  • Kidney(3.9)
  • Intestine(3.4)
  • Skin(3.1)
  • Lung(3)
  • Muscle(3)
  • Pancreas(2.6)
  • Heart(2.3)
  • Stomach(2.3)
  • Blood(2.2)
  • Eye(2.1)
  • Spleen(2)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with RPN1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia RPN1 33 34
  • 99.73 (n)
dog
(Canis familiaris)
Mammalia RPN1 33 34
  • 91.93 (n)
rat
(Rattus norvegicus)
Mammalia Rpn1 33
  • 88.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 88 (a)
OneToMany
-- 34
  • 64 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Rpn1 33 16 34
  • 87.86 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 87 (a)
OneToMany
-- 34
  • 79 (a)
OneToMany
cow
(Bos Taurus)
Mammalia RPN1 33 34
  • 86.71 (n)
-- 34
  • 83 (a)
OneToMany
chicken
(Gallus gallus)
Aves RPN1 33 34
  • 78.96 (n)
lizard
(Anolis carolinensis)
Reptilia RPN1 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rpn1 33
  • 74.77 (n)
MGC76266 33
African clawed frog
(Xenopus laevis)
Amphibia MGC52808 33
zebrafish
(Danio rerio)
Actinopterygii rpn1 33 34
  • 69.47 (n)
-- 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8469 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010174 33
  • 56.53 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG33303 33 34
  • 55.22 (n)
rho-5 35
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea ribo-1 33 34
  • 49.8 (n)
T22D1.4 35
  • 41 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OST1 34 36
  • 25 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G76400 33
  • 47.04 (n)
rice
(Oryza sativa)
Liliopsida Os05g0301500 33
  • 47.45 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2016 34
  • 51 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4362 33
Species where no ortholog for RPN1 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000006510 -- 128,652,466(-) A/G upstream_transcript_variant
rs1000061350 -- 128,635,005(-) C/T intron_variant
rs1000073195 -- 128,650,850(-) C/G 5_prime_UTR_variant
rs1000113445 -- 128,635,279(-) G/A intron_variant
rs1000226161 -- 128,632,254(-) C/T intron_variant

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

Variant ID Type Subtype PubMed ID
nsv511200 CNV loss 21212237
nsv508952 CNV insertion 20534489
nsv433360 CNV gain 18776910
nsv3994 CNV insertion 18451855
nsv10319 CNV gain 18304495
esv3365174 OTHER inversion 20981092
esv32649 CNV gain 17666407
esv2763764 CNV gain+loss 21179565
esv2759176 CNV loss 17122850
esv2725894 CNV deletion 23290073
dgv4856n100 CNV gain 25217958
dgv4855n100 CNV gain 25217958
dgv36n50 OTHER inversion 21212237

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)

Additional Variant Information for RPN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

Additional Disease Information for RPN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. OST4 is a subunit of the mammalian oligosaccharyltransferase required for efficient N-glycosylation. (PMID: 23606741) Dumax-Vorzet A … High S (Journal of cell science 2013) 3 4 58
  2. Polymorphisms in mitochondrial genes and prostate cancer risk. (PMID: 19064571) Wang L … Thibodeau SN (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 44 58
  3. Ribophorin I regulates substrate delivery to the oligosaccharyltransferase core. (PMID: 18607003) Wilson CM … High S (Proceedings of the National Academy of Sciences of the United States of America 2008) 3 22 58
  4. Ribophorin I acts as a substrate-specific facilitator of N-glycosylation. (PMID: 17264154) Wilson CM … High S (Journal of cell science 2007) 3 22 58
  5. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PMID: 17081065) Chi A … Hunt DF (Journal of proteome research 2006) 3 4 58

Products for RPN1 Gene

Sources for RPN1 Gene

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