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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DDOST Gene

protein-coding   GIFtS: 69
GCID: GC01M020978

Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase...

(Previous names: dolichyl-diphosphooligosaccharide-protein glycosyltransferase,...)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase Subunit
(Non-Catalytic)1 2
     WBP12
OST482 3 5     Advanced Glycation Endproduct Receptor 12
Oligosaccharyltransferase Subunit 481 2     Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase 48 KDa
Subunit2
Oligosaccharyl Transferase 48 KDa Subunit2 3     Dolichyl-Diphosphooligosaccharide-Protein Glycotransferase2
OST2 5     Oligosaccharyltransferase 48 KDa Subunit2
Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase1     EC 2.4.99.183
Dolichyl-Diphosphooligosaccharide-Protein Glycosyltransferase1     KIAA01153
AGER12     DDOST 48 KDa Subunit3
CDG1R2     EC 2.4.1.1198
OKSWcl452     

External Ids:    HGNC: 27281   Entrez Gene: 16502   Ensembl: ENSG000002440387   OMIM: 6022025   UniProtKB: P396563   

Export aliases for DDOST gene to outside databases

Previous GC identifers: GC01M020548 GC01M020013 GC01M020124 GC01M020447 GC01M020723 GC01M020841 GC01M019224


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 hyperglycemia, and congenital disorder of glycosylation, and among its related super-pathways are WNT ligand biogenesis and trafficking and Viral mRNA Translation. GO annotations related to this gene include oligosaccharyl transferase activity and dolichyl-diphosphooligosaccharide-protein glycotransferase activity.

UniProtKB/Swiss-Prot: OST48_HUMAN, P39656
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

Gene Wiki entry for DDOST Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004610.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DDOST gene promoter:
         NF-1/L   NF-1   Egr-1   POU3F1   CUTL1   GATA-1   Ik-2   NF-kappaB2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDDOST promoter sequence
   Search SABiosciences Chromatin IP Primers for DDOST

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DDOST


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.1   Ensembl cytogenetic band:  1p36.12   HGNC cytogenetic band: 1p36.1

DDOST Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DDOST gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M020978:  view genomic region     (about GC identifiers)

Start:
20,978,260 bp from pter      End:
20,988,037 bp from pter
Size:
9,778 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: OST48_HUMAN, P39656 (See protein sequence)
Recommended Name: Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit precursor  
Size: 456 amino acids; 50801 Da
Subunit: 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)
Subcellular location: Endoplasmic reticulum membrane; Single-pass type I membrane protein
Caution: It is uncertain whether Met-1 or Met-18 is the initiator
Sequence caution: Sequence=BAB93478.1; Type=Erroneous initiation;
Secondary accessions: B2RDQ4 O43244 Q5VWA5 Q8NI93 Q9BUI2

Explore the universe of human proteins at neXtProt for DDOST: NX_P39656

Explore proteomics data for DDOST at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P39656

  • 4/19 DME Specific Peptides for DDOST (P39656) (see all 19)
     TLVLLDN  GYTHLYS  QVSVRPL  ILTGSST 

    DDOST Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DDOST Protein Expression
    REFSEQ proteins: NP_005207.2  
    ENSEMBL proteins: 
     ENSP00000473655   ENSP00000364188   ENSP00000475634   ENSP00000399457  
    Reactome Protein details: P39656
    Human Recombinant Protein Products for DDOST: 
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    Novus Biologicals DDOST Proteins
    Novus Biologicals DDOST Lysates
    Sino Biological Recombinant Protein for DDOST
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DDOST 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0008250oligosaccharyltransferase complex TAS15835887
    GO:0016021integral to membrane IEA--
    GO:0043231intracellular membrane-bounded organelle IDA9642163
    GO:0043234protein complex IDA9642163

    DDOST for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR005013 WBP1

    Graphical View of Domain Structure for InterPro Entry P39656

    ProtoNet protein and cluster: P39656

    1 Blocks protein domain: IPB005013 Dolichyl-diphosphooligosaccharide-protein glycosyltransferase 48kDa subunit

    UniProtKB/Swiss-Prot: OST48_HUMAN, P39656
    Similarity: Belongs to the DDOST 48 kDa subunit family


    DDOST for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: OST48_HUMAN, P39656
    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
    Catalytic activity: 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

         Genatlas biochemistry entry for DDOST:
    dolichyl-diphosphooligosaccharide-protein glycosyltransferase,48kDa,complexing with RPN1 and RPN2,widely expressed

         Enzyme Numbers (IUBMB): EC 2.4.1.1192 EC 2.4.99.181

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004576contributes to oligosaccharyl transferase activity ISS--
    GO:0004579contributes to dolichyl-diphosphooligosaccharide-protein glycotransferase activity IDA9642163
    GO:0005515protein binding IPI--
         
    DDOST for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for DDOST:
     Decreased Tat-dependent transc  Decreased cilium length after  

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for DDOST 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DDOST

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DDOST 
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    miRNA
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    miRTarBase miRNAs that target DDOST:
    hsa-mir-192 (MIRT004128)

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    4 QIAGEN miScript miRNA Assays for microRNAs that regulate DDOST:
    hsa-miR-532-3p hsa-miR-3148 hsa-miR-548aa hsa-miR-1227
    SwitchGear 3'UTR luciferase reporter plasmidDDOST 3' UTR sequence
    Inhib. RNA
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    Clone
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDOST


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for DDOST About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Asparagine N-linked glycosylation
    Asparagine N-linked glycosylation0.77
    N-Glycan biosynthesis0.52
    WNT ligand biogenesis and trafficking0.77
    Post-translational protein modification0.44
    Signaling by Wnt0.62
    Metabolism of proteins0.35
    2Viral mRNA Translation
    Translation0.78
    SRP-dependent cotranslational protein targeting to membrane0.77
    3Immune System
    Immune System0.56
    Innate Immune System0.50
    4Signaling by GPCR
    Signal Transduction0.55
    5Generic Transcription Pathway
    Gene Expression0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for DDOST
        CFTR folding and maturation (norm and CF)

    1 BioSystems Pathway for DDOST
        AGE/RAGE pathway


    5/12        Reactome Pathways for DDOST (see all 12)
        Advanced glycosylation endproduct receptor signaling
    Signaling by Wnt
    Translation
    Asparagine N-linked glycosylation
    SRP-dependent cotranslational protein targeting to membrane


    3         Kegg Pathways  (Kegg details for DDOST):
        N-Glycan biosynthesis
    Metabolic pathways
    Protein processing in endoplasmic reticulum

    UniProtKB/Swiss-Prot: OST48_HUMAN, P39656
    Pathway: Protein modification; protein glycosylation


    DDOST for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DDOST

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/332 Interacting proteins for DDOST (P396561, 2, 3 ENSP000003641884) via UniProtKB, MINT, STRING, and/or I2D (see all 332)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    TNFRSF1AP194382, 3, ENSP000001627494MINT-49329 I2D: score=2 STRING: ENSP00000162749
    EEF1A1P681042, 3MINT-6488488 MINT-6489355 I2D: score=1 
    MAPK6Q166592, 3MINT-8260955 I2D: score=2 
    TNFRSF1BP203332, 3MINT-49415 I2D: score=2 
    DLSTP369572, 3MINT-4054731 I2D: score=1 
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006412translation TAS--
    GO:0006486protein glycosylation ISS--
    GO:0006487protein N-linked glycosylation IDA9642163
    GO:0006614SRP-dependent cotranslational protein targeting to membrane TAS--
    GO:0010467gene expression TAS--

    DDOST for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DDOST for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DDOST (OST48)

    2 HMDB Compounds for DDOST    About this table
    CompoundSynonyms CAS #PubMed Ids
    Dolichyl diphosphateDolichyl diphosphate (see all 2)37247-98-6--
    L-Asparagine(-)-Asparagine (see all 32)70-47-3--

    1 Novoseek inferred chemical compound relationship for DDOST gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    asparagine 68.7 5 9748289 (1), 9367678 (1), 20419423 (1), 9398187 (1)

    Search CenterWatch for drugs/clinical trials and news about DDOST / OST48

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DDOST gene: 
    NM_005216.4  

    Unigene Cluster for DDOST:

    Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
    Hs.523145  [show with all ESTs]
    Unigene Representative Sequence: NM_005216
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000602624 ENST00000375048(uc001bdo.1 uc010odd.1 uc010ode.1)
    ENST00000475210 ENST00000464364 ENST00000477229 ENST00000415136
    miRNA
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    4 QIAGEN miScript miRNA Assays for microRNAs that regulate DDOST:
    hsa-miR-532-3p hsa-miR-3148 hsa-miR-548aa hsa-miR-1227
    SwitchGear 3'UTR luciferase reporter plasmidDDOST 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AB062391.1 AK296041.1 AK297009.1 AK315633.1 BC002594.2 D29643.1 

    24/44 DOTS entries (see all 44):

    DT.100693050  DT.100045334  DT.100693032  DT.100693019  DT.95133577  DT.455896  DT.100693022  DT.121386272 
    DT.100767874  DT.100693011  DT.100693043  DT.100693018  DT.100693027  DT.100721180  DT.121386335  DT.100693028 
    DT.219507  DT.95189871  DT.95189855  DT.121386258  DT.121386288  DT.445984  DT.91968166  DT.92036320 

    24/1059 AceView cDNA sequences (see all 1059):

    BQ961261 CR618795 BM696051 AA235083 CR622568 AI986251 CB996909 BQ889960 
    AI805380 BM552993 BE907062 CA775765 BQ688914 BU166363 AI677668 CR619937 
    AI832782 CR609695 CF146035 BM843690 CR617144 BI858021 BM047492 BQ684202 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DDOST expression in normal human tissues (normalized intensities)      DDOST embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATCCAGGAG
    DDOST Expression
    About this image


    DDOST expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/17 selected tissues (see all 17) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
             brain/midbrain   
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Membranous Facial Bones
             sensory organ/ear/inner ear   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             heart/atrium   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   

    See DDOST Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DDOST

    SOURCE GeneReport for Unigene cluster: Hs.523145
        SABiosciences Expression via Pathway-Focused PCR Array including DDOST: 
              Drug Metabolism: Phase II Enzymes in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDOST

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DDOST gene from 10/26 species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ddost1 , 5 dolichyl-di-phosphooligosaccharide-protein glycotransferase less1, 5 88.11(n)1
    95.23(a)1
      4 (70.13 cM)5
    132001  NM_007838.21  NP_031864.21 
     1383047305 
    chicken
    (Gallus gallus)
    Aves DDOST1 dolichyl-diphosphooligosaccharide--protein glycosyltransferase less 77.78(n)
    88.58(a)
      425542  NM_001168008.1  NP_001161480.1 
    lizard
    (Anolis carolinensis)
    Reptilia DDOST6
    Uncharacterized protein
    83(a)
    1 ↔ 1
    GL343609.1(106643-125414)
    African clawed frog
    (Xenopus laevis)
    Amphibia BX845858.12   -- 78.87(n)    BX845858.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa11d012 Danio rerio cDNA clone MGC66068 IMAGE6795586, complete cds less 78.84(n)    BC056559.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ost481 , 3 N-linked glycosylation
    dolichyl-diphospho-oligosaccharide-protein
    glycosyltransferase less3
    Oligosaccharyltransferase 48kD subunit1
    61(a)3
    62.87(n)1
    62.71(a)1
      318491  NM_078541.31  NP_511096.21 
    worm
    (Caenorhabditis elegans)
    Secernentea T09A5.113
    ostb-11
    N-oligosaccharyl transferase 48kd
    subunit3
    Protein OSTB-11
    53(a)3
    54.56(n)1
    53.77(a)1
      II(7864431-7865930)3
    1742681  NM_063254.41  NP_495655.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes WBP1(YEL002C)4
    WBP11
    Beta subunit of the oligosaccharyl transferase (OST) glycoprotein complex; required for N-linked glycosylation of proteins in the endoplasmic reticulum less4
    Wbp1p1
    38.01(n)1
    26.79(a)1
      5(150014-148722)4
    8567161, 4  NP_010914.31  NP_010914.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons DGL11 oligosaccharyltransferase complex subunit beta 52.85(n)
    47.23(a)
      836801  NM_126066.3  NP_569038.1 
    rice
    (Oryza sativa)
    Liliopsida Os.105612 Oryza sativa (japonica cultivar-group) cDNA cloneJ033003F07, full insert sequence less 69.61(n)    AK059111.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/339 SNPs in DDOST are shown (see all 339)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0675444
    Congenital disorder of glycosylation 1R (CDG1R)4--see VAR_0675442 G D mis40--------
    VAR_0479114
    ----see VAR_0479112 R G mis40--------
    rs7103191,2
    C--19227786(-) AAAAAC/AAAAAA 1 -- int12Minor allele frequency- A:0.25WA NA 4
    rs7103181,2
    C,F--19227794(+) TTTTTG/TTTTTT 1 -- int14Minor allele frequency- T:0.25WA NA 8
    rs1382772511,2
    C--20978762(+) GAGGTA/GAAGTT 1 -- ut310--------
    rs68931,2
    C,F,A,H--20978832(+) CCTCCC/TTGCCC 1 -- ut3114Minor allele frequency- T:0.18MN NA WA CSA EA 562
    rs2014696871,2
    --20978838(+) TGCCCC/TGTCTC 1 -- ut310--------
    rs1176348381,2
    C,F--20978899(+) TTCATG/ATGCAA 2 /H syn11Minor allele frequency- A:0.02EA 120
    rs1488839981,2
    C,F--20978983(+) ATGAAG/ACGCTC 2 /R syn11Minor allele frequency- A:0.00NA 4550
    rs1495760511,2
    C,F--20979016(+) CGCACG/AGATAC 2 /S syn11Minor allele frequency- A:0.00NA 4548

    HapMap Linkage Disequilibrium report for DDOST (20978260 - 20988037 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for DDOST:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv834369CNV Loss17160897
    nsv870827CNV Gain21882294


    Human Gene Mutation Database (HGMD): DDOST
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing DDOST
    DNA2.0 Custom Variant and Variant Library Synthesis for DDOST

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602202    OMIM disorders: --

    UniProtKB/Swiss-Prot: OST48_HUMAN, P39656
  • 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. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 8 diseases for DDOST:    About MalaCards
    hyperglycemia    congenital disorder of glycosylation    vascular disease    hypotonia
    intrahepatic cholangiocarcinoma    cholangiocarcinoma    type 1 diabetes    endotheliitis


    DDOST for disorders           About GeneDecksing

    Genetic Association Database (GAD): DDOST
    Human Genome Epidemiology (HuGE) Navigator: DDOST (3 documents)

    Export disorders for DDOST gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DDOST gene, integrated from 9 sources (see all 58):
    (articles sorted by number of sources associating them with DDOST)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genome organization of human 48-kDa oligosaccharyltransferase (DDOST). (PubMed id 9367678)1, 2, 3, 9 Yamagata T.... Momoi T. (1997)
    2. DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. (PubMed id 22305527)1, 2 Jones M.A.... Hegde M.R. (2012)
    3. DDOST, PRKCSH and LGALS3, which encode AGE-receptors 1, 2 and 3, respectively, are not associated with diabetic nephropathy in type 1 diabetes. (PubMed id 20490454)1, 4 Hoverfelt A....Wessman M. (2010)
    4. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)1, 4 Saito A....Kamatani N. (2009)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. 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. (PubMed id 7788527)1, 2 Nagase T....Kotani H. (1995)
    7. Drafting the CLN3 protein interactome in SH-SY5Y human neuroblastoma cells: a label-free quantitative proteomics approach. (PubMed id 23464991)1 Scifo E....Lalowski M. (2013)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    9. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)
    10. Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1650 HGNC: 2728 AceView: DDOST Ensembl:ENSG00000244038 euGenes: HUgn1650
    ECgene: DDOST Kegg: 1650 H-InvDB: DDOST

    (According to HUGE)
    About This Section
    HUGE: KIAA0115

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DDOST Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DDOST Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DDOST gene:
    Search GeneIP for patents involving DDOST

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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