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Aliases for DDOST Gene

Aliases for DDOST Gene

  • Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase Subunit (Non-Catalytic) 2 3
  • OST48 3 4 6
  • Oligosaccharyl Transferase 48 KDa Subunit 3 4
  • Oligosaccharyltransferase Subunit 48 2 3
  • CDG1R 3 6
  • OST 3 6
  • Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase 48 KDa Subunit 3
  • Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase 2
  • 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 64
  • EC 2.4.99.18 4
  • OKSWcl45 3
  • KIAA0115 4
  • AGER1 3
  • WBP1 3

External Ids for DDOST Gene

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 Subunit (Non-Catalytic)) is a Protein Coding gene. Diseases associated with DDOST include congenital disorder of glycosylation, type ir and hyperglycemia. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. 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

Gene Wiki entry for DDOST Gene

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

Genomics for DDOST Gene

Genomic Location for DDOST Gene

Start:
20,651,767 bp from pter
End:
20,661,544 bp from pter
Size:
9,778 bases
Orientation:
Minus strand

Genomic View for DDOST Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DDOST Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DDOST Gene

Regulatory Elements 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 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 even after release from the ribosome (By similarity). 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.
    SequenceCaution:
    • Sequence=BAB93478.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for DDOST Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DDOST Gene

Proteomics data for DDOST Gene at MOPED

Post-translational modifications for DDOST Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys189 and Lys301

Other Protein References for DDOST Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for DDOST Gene

Protein Domains for DDOST Gene

UniProtKB/Swiss-Prot:

OST48_HUMAN
Family:
  • Belongs to the DDOST 48 kDa subunit family.:
    • P39656
genes like me logo Genes that share domains with DDOST: view

No data available for Gene Families for DDOST Gene

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 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 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 IDA 9642163
GO:0005515 protein binding IPI 21903422
genes like me logo Genes that share ontologies with DDOST: view

Phenotypes for DDOST Gene

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

miRNA for DDOST Gene

No data available for Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for DDOST Gene COMPARTMENTS Subcellular localization image for DDOST gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
cytosol 1
lysosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for DDOST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0008250 oligosaccharyltransferase complex TAS 15835887
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DDOST: view

Pathways for DDOST Gene

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

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:0006412 translation TAS --
GO:0006486 protein glycosylation ISS --
GO:0006487 protein N-linked glycosylation IDA 9642163
GO:0006614 SRP-dependent cotranslational protein targeting to membrane TAS --
GO:0010467 gene expression TAS --
genes like me logo Genes that share ontologies with DDOST: view

Compounds for DDOST Gene

(2) HMDB Compounds for DDOST Gene

Compound Synonyms Cas Number PubMed IDs
Dolichyl diphosphate
  • Dolichyl diphosphate
37247-98-6
L-Asparagine
  • (-)-Asparagine
70-47-3

(1) Novoseek inferred chemical compound relationships for DDOST Gene

Compound -log(P) Hits PubMed IDs
asparagine 68.7 4
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:

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

No ASD Table

Relevant External Links for DDOST Gene

GeneLoc Exon Structure for
DDOST
ECgene alternative splicing isoforms for
DDOST

Expression for DDOST Gene

mRNA expression in normal human tissues for DDOST Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DDOST Gene

SOURCE GeneReport for Unigene cluster for DDOST Gene Hs.523145

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

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 36
  • 99.56 (n)
  • 99.78 (a)
DDOST 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DDOST 36
  • 89.68 (n)
  • 94.95 (a)
DDOST 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DDOST 36
  • 90.9 (n)
  • 95.94 (a)
DDOST 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ddost 36
  • 88.11 (n)
  • 95.23 (a)
Ddost 16
Ddost 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DDOST 37
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DDOST 37
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ddost 36
  • 87.42 (n)
  • 95.45 (a)
chicken
(Gallus gallus)
Aves DDOST 36
  • 79.51 (n)
  • 91.39 (a)
DDOST 37
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DDOST 37
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ddost 36
  • 79.32 (n)
  • 91.17 (a)
zebrafish
(Danio rerio)
Actinopterygii ddost 36
  • 76.58 (n)
  • 86.81 (a)
ddost 37
  • 83 (a)
OneToOne
wufa11d01 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006383 36
  • 63.37 (n)
  • 63.53 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ost48 36
  • 62.79 (n)
  • 62.71 (a)
Ost48 37
  • 58 (a)
OneToOne
Ost48 38
  • 61 (a)
worm
(Caenorhabditis elegans)
Secernentea ostb-1 36
  • 55.72 (n)
  • 55.31 (a)
ostb-1 37
  • 51 (a)
OneToOne
T09A5.11 38
  • 53 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes WBP1 37
  • 25 (a)
OneToOne
WBP1 39
thale cress
(Arabidopsis thaliana)
eudicotyledons DGL1 36
  • 52.82 (n)
  • 47.26 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.2311 36
corn
(Zea mays)
Liliopsida Zm.4286 36
rice
(Oryza sativa)
Liliopsida Os.10561 36
Os07g0209000 36
  • 53.27 (n)
  • 49.13 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9640 37
  • 62 (a)
OneToOne
Species with no ortholog for DDOST:
  • 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

ENSEMBL:
Gene Tree for DDOST (if available)
TreeFam:
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 MAF
rs4704 -- 20,656,138(-) GACGG(C/T)GGAGG reference, synonymous-codon
rs531268 -- 20,662,115(-) GATAA(A/G)CAGCG upstream-variant-2KB
rs533294 -- 20,661,854(-) CCAAC(C/T)CCTCC upstream-variant-2KB
rs589709 -- 20,657,494(-) CCTGC(C/T)GCGCC intron-variant
rs592851 -- 20,655,313(+) GCCTT(A/G)ATATA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv834369 CNV Loss 17160897
nsv870827 CNV Gain 21882294

Relevant External Links for DDOST Gene

HapMap Linkage Disequilibrium report
DDOST
Human Gene Mutation Database (HGMD)
DDOST

Disorders for DDOST Gene

(1) OMIM Diseases for DDOST Gene (602202)

UniProtKB/Swiss-Prot

OST48_HUMAN
  • Congenital disorder of glycosylation 1R (CDG1R) [MIM:614507]: 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)
DDOST
Human Genome Epidemiology (HuGE) Navigator
DDOST
genes like me logo Genes that share disorders with DDOST: view

Publications for DDOST Gene

  1. Genome organization of human 48-kDa oligosaccharyltransferase (DDOST). (PMID: 9367678) Yamagata T. … Momoi T. (Genomics 1997) 2 3 4 23
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 7788527) Nagase T. … Nomura N. (DNA Res. 1995) 3 4
  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. (J. Hum. Genet. 2009) 3 49
  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. … Wessman M. (Diabetologia 2010) 3 49

Products for DDOST Gene

Sources for DDOST Gene

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