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

DDOST Gene

protein-coding   GIFtS: 64
GCID: GC01M020978

dolichyl-diphosphooligosaccharide--protein glycosyltransferase

(Previous name: dolichyl-diphosphooligosaccharide-protein glycosyltransferase...)
 Explore 7 diseases affiliated with
DDOST via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for DDOST    

Aliases
for DDOST gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase1 2     OKSWcl452
OST481 2 3 5     Advanced Glycation Endproduct Receptor 12
OST1 2 5     Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase 48 KDa Subunit2
WBP11 2     Dolichyl-Diphosphooligosaccharide-Protein Glycotransferase2
KIAA01151 3     Oligosaccharyltransferase 48 KDa Subunit2
Oligosaccharyl Transferase 48 KDa Subunit2 3     EC 2.4.99.183
Dolichyl-Diphosphooligosaccharide-Protein Glycosyltransferase1     DDOST 48 KDa Subunit3
AGER12     EC 2.4.1.1198
CDG1R2     

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


Summaries
for DDOST gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004610.19  
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 plasmid: DDOST 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

Proteins
for DDOST gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005207.2  
    ENSEMBL proteins: 
     ENSP00000364188   ENSP00000399457  
    Reactome Protein details: P39656
    Human Recombinant Protein Products: 
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: DDOST
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    Novus Biologicals DDOST Proteins
    Novus Biologicals DDOST Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for DDOST

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005792microsome ----
    GO:0008250oligosaccharyltransferase complex TAS15835887
    GO:0016021integral to membrane IEA--
    GO:0043231intracellular membrane-bounded organelle IDA9642163


    DDOST for ontologies           About GeneDecksing



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    Uscn Antibodies for DDOST
    ThermoFisher Antibodies for DDOST

    Assay Products for DDOST: 
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    Uscn ELISAs and CLIAs for DDOST

    Protein Domains /
    Families
    for DDOST gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    DDOST for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR005013 WBP1

    Graphical View of Domain Structure for InterPro Entry P39656

    ProtoNet protein and cluster: P39656

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

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


    Function
    for DDOST gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
    Products:            		miRTarBase miRNAs that target DDOST:
    hsa-mir-192 (MIRT004128)

    OriGene 3'-UTR Clone: DDOST
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DDOST
    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 plasmid: DDOST 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DDOST (see all 7)
    OriGene shRNA RFP: DDOST
    OriGene siRNA: DDOST
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DDOST

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for DDOST

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DDOST (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DDOST
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: DDOST (NM_005216)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DDOST
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DDOST 

    Cell Line
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    Search LifeMap BioReagents cell lines for DDOST

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDOST

    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


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


    Pathways & Interactions
    for DDOST gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Asparagine N-linked glycosylation
    		Asparagine N-linked glycosylation1.00
    		Post-translational protein modification0.44
    		N-Glycan biosynthesis0.52
    		Metabolism of proteins0.15
    2Immune System
    		Immune System1.00
    		Innate Immune System0.46
    3Synthesis of PB1-F2
    		SRP-dependent cotranslational protein targeting to membrane0.77
    		Translation0.57
    4AGE/RAGE pathway
    		AGE/RAGE pathway1.00
    5Protein processing in endoplasmic reticulum
    		Protein processing in endoplasmic reticulum1.00

    Pathway sources
    See GeneCards unified pathways
    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

    5/9        Reactome Pathways for DDOST (see all 9)
        Advanced glycosylation endproduct receptor signaling
    Translation
    Asparagine N-linked glycosylation
    SRP-dependent cotranslational protein targeting to membrane
    Metabolism of proteins


    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)

    5/329 Interacting proteins for DDOST (P396561, 2, 3 ENSP000003641884) via UniProtKB, MINT, STRING, and/or I2D (see all 329)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    COPAP536212, 3, ENSP000003570484MINT-6489355 I2D: score=2 STRING: ENSP00000357048
    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 
    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



    Drugs & Compounds
    for DDOST gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 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 

    Transcripts
    for DDOST gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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
    Hs.523145  [show with all ESTs]
    Unigene Representative Sequence: NM_005216
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375048(uc001bdo.1 uc010odd.1 uc010ode.1) ENST00000475210
    ENST00000486473 ENST00000464364 ENST00000477229 ENST00000415136

    miRNA
    Products:             		 OriGene 3'-UTR Clone: DDOST
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DDOST
    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 plasmid: DDOST 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DDOST (see all 7)
    OriGene shRNA RFP: DDOST
    OriGene siRNA: DDOST
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DDOST
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DDOST
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    GenScript: all cDNA clones in your preferred vector: DDOST (NM_005216)
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    Primer
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    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DDOST
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DDOST
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DDOST

    Additional cDNA sequence: 

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

    24/45 DOTS entries (see all 45):

    DT.100693050  DT.100045334  DT.100693032  DT.100693019  DT.95133577  DT.455896  DT.100693022  DT.121386272 
    DT.100767874  DT.100693011  DT.100693027  DT.100693043  DT.100693018  DT.100721180  DT.121386335  DT.100693028 
    DT.95189871  DT.219507  DT.95189855  DT.121386258  DT.121386288  DT.445984  DT.91853256  DT.91968166 

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

    BE893839 BF475800 AW673854 AI720431 AI365634 BE868869 CR594607 BE783986 
    F08568 AI367401 BQ961261 CR618795 AA235083 BM696051 CR622568 CB996909 
    AI986251 BQ889960 AI805380 BM552993 BE907062 CA775765 BQ688914 BU166363 

    GeneLoc Exon Structure


    Expression
    for DDOST gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AATCCAGGAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    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
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DDOST
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DDOST
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDOST

    Orthologs
    for DDOST gene

    (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 10/37 species (see all 37)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Ddost1 , 5 dolichyl-di-phosphooligosaccharide-protein glycotransferase1, 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 77.78(n)
    88.58(a)    		   425542  NM_001168008.1  NP_001161480.1 
    lizard
    (Anolis carolinensis)    		 Reptilia DDOST6
    		 --
    		 84(a)
    		 1 ↔ 1
    		 GL343609.1(106643-125412)
    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 more 78.84(n)    BC056559.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Ost481 , 3 N-linked glycosylation
    dolichyl-diphospho-oligosaccharide-protein
    more3
    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) more4
    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 cloneJ more 69.61(n)    AK059111.1 


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

    Paralogs
    for DDOST gene

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

    Genomic Variants
    for DDOST gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/306 NCBI SNPs in DDOST are shown (see all 306)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs716536241,2
    		F--19224040(+) GGGAA-/GAGA  
                GAGAT     		1 -- ut311Minor allele frequency- GAGA:0.15NA 26
    rs783498641,2
    		--19224123(+) AAAGGT/CTGTCT 1 -- ut311Minor allele frequency- C:0.01WA 118
    rs109168431,2
    		C,F,A,H,--19224272(+) TTTCAC/TAGTTA 1 -- ds500125Minor allele frequency- T:0.18NS EA NA CSA WA 2793
    rs1160186751,2
    		C,F,--19224283(+) AAAGAA/CAGACA 1 -- ds50011Minor allele frequency- C:0.06WA 118
    rs356108741,2
    		C,--19226213(+) GCAAA-/CCCTTT 1 -- int10--------
    rs20706601,2
    		C,F,O,A,H,--19226577(-) ACAAGC/AAACCA 1 -- int129Minor allele frequency- A:0.17NA NS EA WA CSA 3079
    rs799181961,2
    		F,--19226709(+) TGAAAT/CAATCT 1 -- int11Minor allele frequency- C:0.02WA 118
    rs74136081,2
    		H--19227113(+) GGAGCC/TTGAGA 1 -- int14Minor allele frequency- T:0.00NS EA 420
    rs1133119071,2
    		F--19227139(+) CCATGC/TCCCAC 1 -- int11Minor allele frequency- T:0.50CSA 4
    rs124043681,2
    		C,H--19227637(+) cctgtT/Ctaatt 1 -- int11Minor allele frequency- C:0.00NA 2

    HapMap Linkage Disequilibrium report for DDOST (20978260 - 20988037 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for DDOST: --
    Human Gene Mutation Database (HGMD): DDOST

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DDOST
    DNA2.0 Custom Variant and Variant Library Synthesis for DDOST

    Disorders / Diseases
    for DDOST gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    DDOST for disorders           About GeneDecksing

    OMIM gene information: 602202    OMIM disorders: --

    UniProtKB/Swiss-Prot: OST48_HUMAN, P39656
  • Defects in DDOST are the cause of congenital disorder of glycosylation type 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

    7 diseases for DDOST:    About MalaCards
    hyperglycemia    intrahepatic cholangiocarcinoma    vascular disease    cholangiocarcinoma
    nephropathy    malaria    congenital disorder of glycosylation

    Human Genome Epidemiology (HuGE) Navigator: DDOST (3 documents)

    Export disorders for DDOST gene to outside databases

    Publications
    for DDOST gene

    (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 49):
    (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. 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)
    4. 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)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    6. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)
    7. Keratinocyte-associated protein 2 is a bona fide subun it of the mammalian oligosaccharyltransferase. (PubMed id 22266900)1 Roboti P. and High S. (2012)
    8. Proteomic identification of common SCF ubiquitin ligas e FBXO6-interacting glycoproteins in three kinds of cells. (PubMed id 22268729)1 Liu B....Wang L.S. (2012)
    9. Mapping a dynamic innate immunity protein interaction network regulating type I interferon production. (PubMed id 21903422)1 Li S....Dorf M.E. (2011)
    10. Dual role of ancient ubiquitous protein 1 (AUP1) in l ipid droplet accumulation and endoplasmic reticulum (ER) protein quality contro l. (PubMed id 21857022)1 Klemm E.J....Ploegh H.L. (2011)

    External Searches for DDOST gene

    (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)

    Genome Databases showing DDOST gene

    (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

    Other Databases showing DDOST gene

    (According to HUGE)
    About This Section
    HUGE: KIAA0115

    Specialized Databases showing DDOST gene

    (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

    Intellectual Property
    for DDOST gene

    (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



    Products
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    About This Section

     
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     Regulatory tfbs in DDOST promoter
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