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Aliases for DDOST Gene

Aliases for DDOST Gene

  • Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase Non-Catalytic Subunit 2 3 5
  • Advanced Glycation End-Product Receptor 1 2 3
  • Oligosaccharyl Transferase 48 KDa Subunit 3 4
  • Oligosaccharyltransferase Subunit 48 2 3
  • OST48 3 4
  • Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase Subunit (Non-Catalytic) 3
  • Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase 48 KDa Subunit 3
  • Dolichyl-Diphosphooligosaccharide-Protein Glycosyltransferase 2
  • Dolichyl-Diphosphooligosaccharide-Protein Glycotransferase 3
  • Advanced Glycation Endproduct Receptor 1 3
  • Oligosaccharyltransferase 48 KDa Subunit 3
  • DDOST 48 KDa Subunit 4
  • EC 58
  • OKSWcl45 3
  • KIAA0115 4
  • AGER1 3
  • CDG1R 3
  • GATD6 3
  • WBP1 3
  • OST 3

External Ids for DDOST Gene

Previous GeneCards Identifiers for DDOST Gene

  • GC01M020548
  • GC01M020013
  • GC01M020124
  • GC01M020447
  • GC01M020723
  • GC01M020841
  • GC01M020978
  • GC01M019224

Summaries for DDOST Gene

Entrez Gene Summary for DDOST Gene

  • This gene encodes a component of the oligosaccharyltransferase complex which catalyzes the transfer of high-mannose oligosaccharides to asparagine residues on nascent polypeptides in the lumen of the rough endoplasmic reticulum. The protein complex co-purifies with ribosomes. The product of this gene is also implicated in the processing of advanced glycation endproducts (AGEs), which form from non-enzymatic reactions between sugars and proteins or lipids and are associated with aging and hyperglycemia. [provided by RefSeq, Jul 2008]

GeneCards Summary for DDOST Gene

DDOST (Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase Non-Catalytic Subunit) is a Protein Coding gene. Diseases associated with DDOST include Congenital Disorder Of Glycosylation, Type Ir. Among its related pathways are AGE/RAGE pathway and Protein processing in endoplasmic reticulum. GO annotations related to this gene include dolichyl-diphosphooligosaccharide-protein glycotransferase activity and oligosaccharyl transferase activity.

UniProtKB/Swiss-Prot for DDOST 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. Required for the assembly of both SST3A- and SS3B-containing OST complexes. Required for efficient N-glycosylation.

Gene Wiki entry for DDOST Gene

Additional gene information for DDOST Gene

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

Genomics for DDOST Gene

Regulatory Elements for DDOST Gene

Enhancers for DDOST Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H020474 2 FANTOM5 Ensembl ENCODE dbSUPER 30.1 +180.5 180463 13.8 PKNOX1 FOXA2 MLX ARID4B DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 ZNF143 HP1BP3 DDOST MUL1 FAM43B ENSG00000226487 ENSG00000226664 LINC01757 HSPE1P27 ENSG00000236009 ENSG00000228823
GH01H021331 2.1 FANTOM5 Ensembl ENCODE dbSUPER 10.3 -677.6 -677643 15.2 MLX FEZF1 DMAP1 YBX1 YY1 ZNF416 ZNF143 SP3 MCM3 NFYC HP1BP3 NBPF3 USP48 NBPF2P ECE1 CDC42-IT1 LDLRAD2 ENSG00000236936 HSPG2 MUL1
GH01H020601 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10 +58.2 58229 4.2 FOXA2 NFRKB JUN ZNF266 MAX YY1 POLR2A NFYB HNF4G ZNF143 CDA PINK1 HP1BP3 DDOST GC01P020619
GH01H021573 1.3 Ensembl ENCODE dbSUPER 10.9 -912.9 -912868 1.7 RB1 ARID4B RAD21 GTF3C2 EGR1 ZNF366 EGR2 SMARCA5 ZNF654 REST ZBTB40 CDC42-IT1 ENSG00000271428 DDOST ALPL USP48 HP1BP3 LOC105376834 GC01P021552 GC01P021551
GH01H021641 1 ENCODE dbSUPER 10.9 -980.6 -980562 1.6 BCOR HDGF ESRRA PTBP1 ZSCAN26 ZSCAN4 ZMYM3 NFXL1 SALL2 CC2D1A HP1BP3 RAP1GAP ZBTB40 CDC42-IT1 USP48 LOC105376834 ENSG00000271428 DDOST NBPF3 PIR35545
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DDOST on UCSC Golden Path with GeneCards custom track

Promoters for DDOST Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000002644 244 1801 HDGF FOXA2 PKNOX1 ARNT ARID4B SIN3A ZNF2 YY1 ZNF766 ZNF143

Genomic Locations for DDOST Gene

Genomic Locations for DDOST Gene
9,778 bases
Minus strand

Genomic View for DDOST Gene

Genes around DDOST on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for DDOST Gene

Proteins for DDOST Gene

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

    Protein Symbol:
    Recommended name:
    Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit
    Protein Accession:
    Secondary Accessions:
    • B2RDQ4
    • B4DJE3
    • B4DLI2
    • O43244
    • Q5VWA5
    • Q8NI93
    • Q9BUI2

    Protein attributes for DDOST Gene

    456 amino acids
    Molecular mass:
    50801 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).
    • Sequence=BAB93478.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for DDOST Gene


neXtProt entry for DDOST Gene

Selected DME Specific Peptides for DDOST Gene


Post-translational modifications for DDOST Gene

  • Ubiquitination at posLast=189189 and posLast=301301
  • Modification sites at PhosphoSitePlus

Other Protein References for DDOST Gene

Domains & Families for DDOST Gene

Gene Families for DDOST Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for DDOST Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the DDOST 48 kDa subunit family.
  • Belongs to the DDOST 48 kDa subunit family.
genes like me logo Genes that share domains with DDOST: view

Function for DDOST Gene

Molecular function for DDOST Gene

GENATLAS Biochemistry:
dolichyl-diphosphooligosaccharide-protein glycosyltransferase,48kDa,complexing with RPN1 and RPN2,widely expressed
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. Required for the assembly of both SST3A- and SS3B-containing OST complexes. Required for efficient N-glycosylation.

Enzyme Numbers (IUBMB) for DDOST Gene

Phenotypes From GWAS Catalog for DDOST Gene

Gene Ontology (GO) - Molecular Function for DDOST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004576 contributes_to oligosaccharyl transferase activity ISS --
GO:0004579 contributes_to dolichyl-diphosphooligosaccharide-protein glycotransferase activity IC,IDA 9642163
GO:0005515 protein binding IPI 21903422
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with DDOST: view
genes like me logo Genes that share phenotypes with DDOST: view

Human Phenotype Ontology for DDOST Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DDOST Gene

MGI Knock Outs for DDOST:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Transcription Factor Targets and HOMER Transcription for DDOST Gene

Localization for DDOST Gene

Subcellular locations from UniProtKB/Swiss-Prot for DDOST Gene

Endoplasmic reticulum membrane; Single-pass type I membrane protein.

Subcellular locations from

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 DDOST gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
lysosome 5
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DDOST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,IDA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane TAS --
GO:0008250 oligosaccharyltransferase complex TAS,ISS 15835887
GO:0016020 membrane IDA,IEA 19946888
genes like me logo Genes that share ontologies with DDOST: view

Pathways & Interactions for DDOST Gene

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

Pathways by source for DDOST Gene

UniProtKB/Swiss-Prot P39656-OST48_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for DDOST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation ISS --
GO:0006487 protein N-linked glycosylation IDA 9642163
GO:0018279 protein N-linked glycosylation via asparagine IC,TAS --
GO:0034097 response to cytokine IDA 9642163
GO:0042110 T cell activation IDA 9642163
genes like me logo Genes that share ontologies with DDOST: view

No data available for SIGNOR curated interactions for DDOST Gene

Drugs & Compounds for DDOST Gene

(1) Drugs for DDOST Gene - From: HMDB

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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dolichyl diphosphate
  • Dolichyl diphosphate
genes like me logo Genes that share compounds with DDOST: view

Transcripts for DDOST Gene

Unigene Clusters for DDOST Gene

Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for DDOST Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DDOST Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DDOST Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DDOST Gene

This gene is overexpressed in Bone (7.5) and Placenta (6.8).

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

Protein tissue co-expression partners for DDOST Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DDOST Gene:


SOURCE GeneReport for Unigene cluster for DDOST Gene:


Evidence on tissue expression from TISSUES for DDOST Gene

  • Nervous system(4.9)
  • Liver(4.5)
  • Blood(4.4)
  • Bone marrow(4.4)
  • Skin(4)
  • Intestine(3.8)
  • Lung(3.8)
  • Pancreas(3.1)
  • Kidney(3)
  • Eye(2.9)
  • Muscle(2.5)
  • Heart(2.2)
  • Thyroid gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DDOST Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • nervous
  • skeletal muscle
Head and neck:
  • cranial nerve
  • ear
  • eye
  • head
  • esophagus
  • heart
  • intestine
  • large intestine
  • liver
  • stomach
  • rectum
  • blood vessel
  • peripheral nervous system
genes like me logo Genes that share expression patterns with DDOST: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for DDOST Gene

Orthologs for DDOST Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DDOST Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DDOST 33 34
  • 99.56 (n)
(Ornithorhynchus anatinus)
Mammalia DDOST 34
  • 94 (a)
(Monodelphis domestica)
Mammalia DDOST 34
  • 91 (a)
(Canis familiaris)
Mammalia DDOST 33 34
  • 90.9 (n)
(Bos Taurus)
Mammalia DDOST 33 34
  • 89.68 (n)
(Mus musculus)
Mammalia Ddost 33 16 34
  • 88.11 (n)
(Rattus norvegicus)
Mammalia Ddost 33
  • 87.42 (n)
(Gallus gallus)
Aves DDOST 33 34
  • 79.51 (n)
(Anolis carolinensis)
Reptilia DDOST 34
  • 83 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ddost 33
  • 79.32 (n)
(Danio rerio)
Actinopterygii ddost 33 34
  • 76.58 (n)
wufa11d01 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006383 33
  • 63.37 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ost48 35 33 34
  • 62.79 (n)
(Caenorhabditis elegans)
Secernentea ostb-1 33 34
  • 55.72 (n)
T09A5.11 35
  • 53 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes WBP1 34 36
  • 25 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons DGL1 33
  • 52.82 (n)
(Oryza sativa)
Liliopsida Os07g0209000 33
  • 53.27 (n)
Os.10561 33
(Hordeum vulgare)
Liliopsida Hv.2311 33
(Zea mays)
Liliopsida Zm.4286 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9640 34
  • 62 (a)
Species where no ortholog for DDOST was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 DDOST Gene

Gene Tree for DDOST (if available)
Gene Tree for DDOST (if available)

Paralogs for DDOST Gene

No data available for Paralogs for DDOST Gene

Variants for DDOST Gene

Sequence variations from dbSNP and Humsavar for DDOST Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs387906831 Pathogenic, Congenital disorder of glycosylation 1R (CDG1R) [MIM:614507] 20,654,660(-) GACGG(A/G)CTCTT reference, missense
rs587776874 Pathogenic 20,652,464(+) TGGCG(-/TAGTAGGGGTAGGCCGAGGGGA)TGAAG upstream-variant-2KB, reference, frameshift-variant
rs148433777 Likely benign 20,651,802(+) TTATT(-/TTTATTTATTTA)TTTAT nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs150466875 Likely benign 20,651,922(+) TTGGA(G/T)TCATG nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs200971370 Likely benign 20,652,002(+) TGTAC(-/TT)TTTTA nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv834369 CNV loss 17160897
nsv545731 CNV gain 21841781
nsv1003348 CNV gain 25217958

Variation tolerance for DDOST Gene

Residual Variation Intolerance Score: 20.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.12; 38.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DDOST Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for DDOST Gene

MalaCards: The human disease database

(1) MalaCards diseases for DDOST Gene - From: OMIM, ClinVar, Orphanet, and Swiss-Prot

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type ir
  • ddost-cdg
- elite association - COSMIC cancer census association via MalaCards
Search DDOST in MalaCards View complete list of genes associated with diseases


  • Congenital disorder of glycosylation 1R (CDG1R) [MIM:614507]: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269 PubMed:22305527}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DDOST

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

No data available for Genatlas for DDOST Gene

Publications for DDOST Gene

  1. Genome organization of human 48-kDa oligosaccharyltransferase (DDOST). (PMID: 9367678) Yamagata T … Momoi T (Genomics 1997) 2 3 4 22 60
  2. DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. (PMID: 22305527) Jones MA … Hegde MR (American journal of human genetics 2012) 3 4 60
  3. DDOST, PRKCSH and LGALS3, which encode AGE-receptors 1, 2 and 3, respectively, are not associated with diabetic nephropathy in type 1 diabetes. (PMID: 20490454) Hoverfelt A … FinnDiane Study Group (Diabetologia 2010) 3 45 60
  4. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A … Kamatani N (Journal of human genetics 2009) 3 45 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for DDOST Gene

Sources for DDOST Gene

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