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),... See more...

Aliases for DDOST Gene

Aliases for DDOST Gene

  • Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase Non-Catalytic Subunit 2 3 5
  • OST48 2 3 4
  • Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase 48 KDa Subunit 3 4
  • Advanced Glycation End-Product Receptor 1 2 3
  • Oligosaccharyl Transferase 48 KDa Subunit 3 4
  • Oligosaccharyltransferase Subunit 48 2 3
  • KIAA0115 2 4
  • GATD6 2 3
  • WBP1 2 3
  • OST 2 3
  • Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase Subunit (Non-Catalytic) 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 2.4.1.119 50
  • OKSWcl45 3
  • AGER1 3
  • CDG1R 3
  • DDOST 5

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 and Congenital Disorder Of Glycosylation, Type In. Among its related pathways are AGE/RAGE pathway and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include dolichyl-diphosphooligosaccharide-protein glycotransferase activity and oligosaccharyl transferase activity.

UniProtKB/Swiss-Prot Summary 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.
  • Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity (By similarity). Required for the assembly of both SST3A- and SS3B-containing OST complexes (PubMed:22467853).

Gene Wiki entry for DDOST Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DDOST Gene

Genomics for DDOST Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DDOST Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DDOST on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DDOST

Top Transcription factor binding sites by QIAGEN in the DDOST gene promoter:
  • CUTL1
  • Egr-1
  • GATA-1
  • Ik-2
  • NF-1
  • NF-1/L
  • NF-kappaB1
  • NF-kappaB2
  • POU3F1

Genomic Locations for DDOST Gene

Latest Assembly
chr1:20,651,767-20,661,544
(GRCh38/hg38)
Size:
9,778 bases
Orientation:
Minus strand

Previous Assembly
chr1:20,978,270-20,987,862
(GRCh37/hg19 by Entrez Gene)
Size:
9,593 bases
Orientation:
Minus strand

chr1:20,978,270-20,988,000
(GRCh37/hg19 by Ensembl)
Size:
9,731 bases
Orientation:
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:
    P39656-OST48_HUMAN
    Recommended name:
    Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit
    Protein Accession:
    P39656
    Secondary Accessions:
    • B2RDQ4
    • B4DJE3
    • B4DLI2
    • O43244
    • Q5VWA5
    • Q8NI93
    • Q9BUI2

    Protein attributes for DDOST Gene

    Size:
    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 (PubMed:23606741, PubMed:25135935). STT3A complex assembly occurs through the formation of 3 subcomplexes. Subcomplex 1 contains RPN1 and TMEM258, subcomplex 2 contains the STT3A-specific subunits STT3A, DC2/OSTC, and KCP2 as well as the core subunit OST4, and subcomplex 3 contains RPN2, DAD1, and OST48. The STT3A complex can form stable complexes with the Sec61 complex or with both the Sec61 and TRAP complexes (By similarity). Interacts with SMIM22 (PubMed:29765154).
    SequenceCaution:
    • Sequence=BAB93478.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DDOST Gene

    Alternative splice isoforms for DDOST Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DDOST Gene

Selected DME Specific Peptides for DDOST Gene

P39656:
  • QLEFVRIDPFVR
  • VIDHHNYD
  • LSLIKYGEFLYDNLIIFSPS
  • QFKVDYNR
  • QVSVRPL
  • THSLFFRSL
  • HTQYERFI
  • AYTVTDLVEY
  • TLVLLDN
  • ALSRWVFKE
  • LQARNNARV
  • FSGSLDFFSD
  • HTLIVAD
  • GYTHLYS
  • VSHHRVGE
  • FIDGGGSVLVAASSDIGDPLRELGSECGIEFDE
  • ILTGSST
  • EDFGGNINVETI
  • FKLPDVYGVF

Post-translational modifications for DDOST Gene

  • Ubiquitination at Lys189 and Lys301
  • Modification sites at PhosphoSitePlus

Other Protein References for DDOST Gene

Domains & Families for DDOST Gene

Gene Families for DDOST Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for DDOST Gene

InterPro:
Blocks:
  • Dolichyl-diphosphooligosaccharide-protein glycosyltransferase 48kDa subunit

Suggested Antigen Peptide Sequences for DDOST Gene

GenScript: Design optimal peptide antigens:
  • Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit (OST48_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P39656

UniProtKB/Swiss-Prot:

OST48_HUMAN :
  • Belongs to the DDOST 48 kDa subunit family.
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

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.
UniProtKB/Swiss-Prot Function:
Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity (By similarity). Required for the assembly of both SST3A- and SS3B-containing OST complexes (PubMed:22467853).
GENATLAS Biochemistry:
dolichyl-diphosphooligosaccharide-protein glycosyltransferase,48kDa,complexing with RPN1 and RPN2,widely expressed

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:0005515 protein binding IPI 21903422
GO:0008047 enzyme activator activity IMP 22467853
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:
  • Ddost Ddost<tm1.1(KOMP)Vlcg>

Animal Models for research

  • Taconic Biosciences Mouse Models for DDOST

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DDOST

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

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 DDOST gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
lysosome 4
extracellular 2
mitochondrion 2
nucleus 2
cytosol 2
cytoskeleton 1
endosome 1
golgi apparatus 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 IEA,TAS --
GO:0005886 plasma membrane TAS --
GO:0008250 oligosaccharyltransferase complex IBA,ISS --
GO:0016020 membrane IEA,HDA 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

1 GeneGo (Thomson Reuters) pathway for DDOST Gene
  • CFTR folding and maturation (norm and CF)

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 IEA,ISS --
GO:0006487 protein N-linked glycosylation IMP 22467853
GO:0018279 protein N-linked glycosylation via asparagine IEA,TAS --
GO:0031647 regulation of protein stability IMP 22467853
GO:0034097 response to cytokine 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 and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Asparagine Approved, Investigational Nutra 40

(1) Additional Compounds for DDOST Gene - From: HMDB

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

Transcripts for DDOST Gene

mRNA/cDNA for DDOST Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DDOST

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

No ASD Table

Relevant External Links for DDOST Gene

GeneLoc Exon Structure for
DDOST

Expression for DDOST Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for DDOST Gene



Protein tissue co-expression partners for DDOST Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DDOST

SOURCE GeneReport for Unigene cluster for DDOST Gene:

Hs.523145

Evidence on tissue expression from TISSUES for DDOST Gene

  • Nervous system(5)
  • Liver(4.6)
  • Blood(4.5)
  • Bone marrow(4.4)
  • Skin(4.2)
  • Intestine(4)
  • Lung(3.9)
  • Pancreas(3.6)
  • Eye(3.2)
  • Kidney(3.1)
  • Muscle(3)
  • Heart(2.7)
  • Bone(2.3)
  • Lymph node(2.3)
  • Spleen(2.3)
  • Thyroid gland(2.1)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • cranial nerve
  • ear
  • eye
  • head
Thorax:
  • esophagus
  • heart
Abdomen:
  • intestine
  • large intestine
  • liver
  • stomach
Pelvis:
  • rectum
General:
  • 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
Chimpanzee
(Pan troglodytes)
Mammalia DDOST 29 30
  • 99.56 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DDOST 30
  • 94 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DDOST 30
  • 91 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia DDOST 29 30
  • 90.9 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DDOST 29 30
  • 89.68 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ddost 29 16 30
  • 88.11 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ddost 29
  • 87.42 (n)
Chicken
(Gallus gallus)
Aves DDOST 29 30
  • 79.51 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DDOST 30
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ddost 29
  • 79.32 (n)
Zebrafish
(Danio rerio)
Actinopterygii ddost 29 30
  • 76.58 (n)
OneToOne
wufa11d01 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006383 29
  • 63.37 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Ost48 29 30 31
  • 62.79 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea ostb-1 29 30
  • 55.72 (n)
OneToOne
T09A5.11 31
  • 53 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes WBP1 30
  • 25 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons DGL1 29
  • 52.82 (n)
Rice
(Oryza sativa)
Liliopsida Os07g0209000 29
  • 53.27 (n)
Os.10561 29
Barley
(Hordeum vulgare)
Liliopsida Hv.2311 29
Corn
(Zea mays)
Liliopsida Zm.4286 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9640 30
  • 62 (a)
OneToOne
Species where no ortholog for DDOST was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

ENSEMBL:
Gene Tree for DDOST (if available)
TreeFam:
Gene Tree for DDOST (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DDOST: view image
Alliance of Genome Resources:
Additional Orthologs for DDOST

Paralogs for DDOST Gene

No data available for Paralogs for DDOST Gene

Variants for DDOST Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DDOST Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1002236 Uncertain Significance: Congenital disorder of glycosylation type Ir 20,654,307(-) C/T
NM_005216.5(DDOST):c.710G>A (p.Arg237His)
MISSENSE
1009035 Uncertain Significance: Congenital disorder of glycosylation type Ir 20,654,632(-) C/T
NM_005216.5(DDOST):c.627G>A (p.Pro209=)
SYNONYMOUS
1031522 Uncertain Significance: Congenital disorder of glycosylation type Ir 20,654,686(-) G/T
NM_005216.5(DDOST):c.573C>A (p.Asn191Lys)
MISSENSE
864597 Uncertain Significance: Congenital disorder of glycosylation type Ir 20,654,289(-) G/A
NM_005216.5(DDOST):c.728C>T (p.Ser243Phe)
MISSENSE
942978 Uncertain Significance: Congenital disorder of glycosylation type Ir 20,660,875(-) C/G
NM_005216.5(DDOST):c.265+6G>C
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DDOST Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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)

Additional Variant Information for DDOST Gene

Human Gene Mutation Database (HGMD)
DDOST
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DDOST
Leiden Open Variation Database (LOVD)
DDOST

SNP Genotyping and Copy Number Assays for research

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

Disorders for DDOST Gene

MalaCards: The human disease database

(8) MalaCards diseases for DDOST Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

UniProtKB/Swiss-Prot

OST48_HUMAN
  • 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 variants affecting the gene represented in this entry.

Additional Disease Information for DDOST

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  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 72
  3. The cancer-associated microprotein CASIMO1 controls cell proliferation and interacts with squalene epoxidase modulating lipid droplet formation. (PMID: 29765154) Polycarpou-Schwarz M … Diederichs S (Oncogene 2018) 3 4
  4. The oligosaccharyltransferase subunits OST48, DAD1 and KCP2 function as ubiquitous and selective modulators of mammalian N-glycosylation. (PMID: 22467853) Roboti P … High S (Journal of cell science 2012) 3 4
  5. 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 40

Products for DDOST Gene

Sources for DDOST Gene