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MPDU1 Gene

protein-coding   GIFtS: 65
GCID: GC17P007486

Mannose-P-Dolichol Utilization Defect 1

  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)
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Aliases
Mannose-P-Dolichol Utilization Defect 11 2     My0082
SL152 3 5     PP39582
Suppressor Of Lec15 And Lec35 Glycosylation Mutation Homolog2 3     PQLC52
CDGIF2 5     HBeAg-Binding Protein 2 Binding Protein A2
HBEBP2BPA2     Mannose-P-Dolichol Utilization Defect 1 Protein2
Lec352     

External Ids:    HGNC: 72071   Entrez Gene: 95262   Ensembl: ENSG000001292557   OMIM: 6040415   UniProtKB: O753523   

Export aliases for MPDU1 gene to outside databases

Previous GC identifers: GC17P007901 GC17P008227 GC17P007429 GC17P007687 GC17P007427 GC17P007381


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MPDU1 Gene:
This gene encodes an endoplasmic reticulum membrane protein that is required for utilization of the mannose donor
mannose-P-dolichol in the synthesis of lipid-linked oligosaccharides and glycosylphosphatidylinositols. Mutations
in this gene result in congenital disorder of glycosylation type If. Alternative splicing results in multiple
transcript variants. (provided by RefSeq, Dec 2008)

GeneCards Summary for MPDU1 Gene:
MPDU1 (mannose-P-dolichol utilization defect 1) is a protein-coding gene. Diseases associated with MPDU1 include congenital disorder of glycosylation type 1f, and congenital disorder of glycosylation.

UniProtKB/Swiss-Prot: MPU1_HUMAN, O75352
Function: Required for normal utilization of mannose-dolichol phosphate (Dol-P-Man) in the synthesis of N-linked
and O-linked oligosaccharides and GPI anchors (By similarity)

Gene Wiki entry for MPDU1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NT_010718.17  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MPDU1 gene promoter:
         CREB   PPAR-gamma1   p53   AP-1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMPDU1 promoter sequence
   Search Chromatin IP Primers for MPDU1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MPDU1


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

Entrez Gene cytogenetic band: 17p13.1-p12   Ensembl cytogenetic band:  17p13.1   HGNC cytogenetic band: 17p13.1-p12

MPDU1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MPDU1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P007486:  view genomic region     (about GC identifiers)

Start:
7,486,847 bp from pter      End:
7,496,107 bp from pter
Size:
9,261 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MPU1_HUMAN, O75352 (See protein sequence)
Recommended Name: Mannose-P-dolichol utilization defect 1 protein  
Size: 247 amino acids; 26638 Da
Secondary accessions: B3KQP1 Q9BUU8

Explore the universe of human proteins at neXtProt for MPDU1: NX_O75352

Explore proteomics data for MPDU1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys10
  • Modification sites at PhosphoSitePlus

  • See MPDU1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004861.2  
    ENSEMBL proteins: 
     ENSP00000462500   ENSP00000250124   ENSP00000459306   ENSP00000458741   ENSP00000379758  
     ENSP00000352876   ENSP00000464524   ENSP00000463056   ENSP00000462839   ENSP00000414071  
     ENSP00000461183   ENSP00000462229   ENSP00000459498   ENSP00000464158   ENSP00000459409  
     ENSP00000463037   ENSP00000460864   ENSP00000463966   ENSP00000461499  
    Reactome Protein details: O75352

    MPDU1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR006603 PQ-loop_rpt
     IPR016817 MannP-dilichol_defect-1

    Graphical View of Domain Structure for InterPro Entry O75352

    ProtoNet protein and cluster: O75352

    1 Blocks protein domain: IPB006603 Cystinosin/ERS1p repeat

    UniProtKB/Swiss-Prot: MPU1_HUMAN, O75352
    Similarity: Belongs to the MPDU1 (TC 2.A.43.3) family
    Similarity: Contains 2 PQ-loop domains


    MPDU1 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MPU1_HUMAN, O75352
    Function: Required for normal utilization of mannose-dolichol phosphate (Dol-P-Man) in the synthesis of N-linked
    and O-linked oligosaccharides and GPI anchors (By similarity)

         Genatlas biochemistry entry for MPDU1:
    mannose-P-dolichol utilization defect 1,suppressor of,expressed in
    brain,breast,colon,germcell,heart,kidney,lung,lymph

    Phenotypes:
         1 GenomeRNAi human phenotype for MPDU1:
     Increased cell number in G2M,  

    Animal Models:
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    miRNA
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    miRTarBase miRNAs that target MPDU1:
    hsa-mir-30a-5p (MIRT005170), hsa-mir-26b-5p (MIRT029313), hsa-mir-1 (MIRT023716), hsa-mir-7-5p (MIRT025769), hsa-mir-16-5p (MIRT031593)

    Block miRNA regulation of human, mouse, rat MPDU1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MPDU1 (see all 11):
    hsa-miR-615-5p hsa-miR-1226 hsa-miR-634 hsa-miR-627 hsa-miR-2278 hsa-miR-3914 hsa-miR-1291 hsa-miR-4287
    SwitchGear 3'UTR luciferase reporter plasmidMPDU1 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MPDU1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MPU1_HUMAN, O75352: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    mitochondrion4
    plasma membrane3

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005783endoplasmic reticulum IDA--
    GO:0005789endoplasmic reticulum membrane NAS11179430
    GO:0016021integral component of membrane IEA--

    MPDU1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for MPDU1 About    
    See pathways by source

    SuperPathContained pathways About
    1Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Asparagine N-linked glycosylation0.49
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein0.38
    Post-translational protein modification0.43
    Metabolism of proteins0.30

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for MPDU1
        Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein



    MPDU1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MPDU1
    Interactions:

        Search GeneGlobe Interaction Network for MPDU1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for MPDU1 (O753521, 3 ENSP000002501244) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HERC2O957141, 3, ENSP000002616094EBI-1046501,EBI-1058922 I2D: score=2 STRING: ENSP00000261609
    MORF4L2Q150141, 3EBI-1046501,EBI-399257 I2D: score=2 
    SLC1A5Q157581, 3EBI-1046501,EBI-356576 I2D: score=2 
    RPS3AP612471, 3, ENSP000003460504EBI-1046501,EBI-352378 I2D: score=2 STRING: ENSP00000346050
    PMVKQ151261, 3, ENSP000003574524EBI-1046501,EBI-1055562 I2D: score=2 STRING: ENSP00000357452
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006457protein folding NAS11179430
    GO:0006488dolichol-linked oligosaccharide biosynthetic process TAS11733564
    GO:0006810transport IEA--
    GO:0009312oligosaccharide biosynthetic process IGI11733564

    MPDU1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MPDU1 (MPU1)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MPDU1 gene: 
    NM_004870.3  

    Unigene Cluster for MPDU1:

    Mannose-P-dolichol utilization defect 1
    Hs.246381  [show with all ESTs]
    Unigene Representative Sequence: BM542186
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 27):
    ENST00000582151 ENST00000250124(uc010vub.2 uc002ghw.3 uc002ghx.3)
    ENST00000572936 ENST00000571822 ENST00000396501 ENST00000571391 ENST00000578267
    ENST00000585188 ENST00000359822 ENST00000580708 ENST00000580834 ENST00000572836
    ENST00000577088 ENST00000584378 ENST00000423172(uc010vuc.1) ENST00000576066
    ENST00000584479 ENST00000572719
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate MPDU1 (see all 11):
    hsa-miR-615-5p hsa-miR-1226 hsa-miR-634 hsa-miR-627 hsa-miR-2278 hsa-miR-3914 hsa-miR-1291 hsa-miR-4287
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      QuantiTect SYBR Green Assays in human, mouse, rat MPDU1
      QuantiFast Probe-based Assays in human, mouse, rat MPDU1

    Additional mRNA sequence: 

    AF038961.1 AF059752.1 AF258568.1 AK075299.1 AK225401.1 AK225432.1 AK297001.1 AK300083.1 
    AK300140.1 AK314527.1 BC001898.1 DQ499597.1 NR_024603.1 

    20 DOTS entries:

    DT.445750  DT.95089364  DT.95357494  DT.100818507  DT.100818512  DT.97803116  DT.100818506  DT.100034459 
    DT.98084069  DT.95357492  DT.97766257  DT.95342401  DT.120901663  DT.120901431  DT.120901517  DT.120901712 
    DT.120901844  DT.95106321  DT.95109491  DT.97862119 

    15 AceView cDNA sequences:

    CR601665 AK055923 AK027742 CR591406 CR623337 CR610474 CR609049 CR600077 
    CR618168 AF038961 BC001898 AF059752 NM_004870 AK075299 AF258568 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MPDU1 (see all 16)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c · 3d · 3e ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c ·
    SP1:                          -                       -     -     -     -     -                 -                                                               
    SP2:                          -                       -     -     -     -     -                 -                                                               
    SP3:                          -                       -     -     -     -                       -                                                               
    SP4:                          -                       -     -     -     -     -                       -     -     -                                             
    SP5:                          -                       -     -     -     -     -                       -     -     -                                             

    ExUns: 8d · 8e · 8f · 8g · 8h
    SP1:                              
    SP2:                              
    SP3:                              
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for MPDU1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MPDU1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACTATTAAT
    MPDU1 Expression
    About this image


    MPDU1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Kidney (Urinary System)
             Presumptive Podocytes Podocyte Layer
     
     Thymus (Hematopoietic System)
             Double Negative 2 Thymocytes Thymus
     
     Epithelial Cells
             Presumptive Podocytes Podocyte Layer
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Blood (Cardiovascular System)
             Double Negative 2 Thymocytes Thymus
    MPDU1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MPDU1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.246381
        Custom PCR Arrays for MPDU1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPDU1

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MPDU1 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mpdu11 , 5 mannose-P-dolichol utilization defect 11, 5 87.31(n)1
    91.5(a)1
      11 (42.86 cM)5
    240701  NM_011900.31  NP_036030.21 
     696566975 
    lizard
    (Anolis carolinensis)
    Reptilia MPDU16
    mannose-P-dolichol utilization defect 1
    59(a)
    1 ↔ 1
    AAWZ02040125(3088-7195)
    African clawed frog
    (Xenopus laevis)
    Amphibia BI446029.12   -- 74.34(n)    BI446029.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mpdu1b1 mannose-P-dolichol utilization defect 1b 66.25(n)
    68.49(a)
      415220  NM_001002130.1  NP_001002130.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG37921 , 3 CG37921 50(a)3
    56.57(n)1
    48.92(a)1
      25B83
    337171  NM_135045.31  NP_608889.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F38E1.93
    CELE_F38E1.91
    CELE_F38E1.91 39(a)3
    47.21(n)1
    39.91(a)1
      V(8360736-8361736)3
    1792181  NM_072754.51  NP_505155.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G073901 AT4G07390 45.95(n)
    37.38(a)
      826170  NM_116811.2  NP_567315.1 
    rice
    (Oryza sativa)
    Liliopsida Os07g04792001 Os07g0479200 44.17(n)
    37.38(a)
      4343225  NM_001066168.1  NP_001059633.1 


    ENSEMBL Gene Tree for MPDU1 (if available)
    TreeFam Gene Tree for MPDU1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MPDU1 gene
    1 SIMAP similar gene for MPDU1 using alignment to 17 protein entries:     MPU1_HUMAN (see all proteins):
    HBEBP2BPA

    MPDU1 for paralogs           About GeneDecksing



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MPDU1 (see all 182)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0213894
    Congenital disorder of glycosylation 1F (CDG1F)4--see VAR_0213892 L S mis40--------
    VAR_0213884
    Congenital disorder of glycosylation 1F (CDG1F)4--see VAR_0213882 G E mis40--------
    VAR_0213904
    Congenital disorder of glycosylation 1F (CDG1F)4--see VAR_0213902 L P mis40--------
    rs1048945881,2
    Cpathogenic17476413(+) CAATAC/TGGCGG 3 T M mis10--------
    rs1048945861,2
    Cpathogenic17478541(+) TGAAGA/GGTTGA 3 E G mis10--------
    rs1048945891,2
    Cpathogenic17478544(+) AGGGTC/TGAGTC 3 S L mis10--------
    rs1048945871,2
    Cpathogenic17479292(+) CTTCCC/TGGTCA 3 P L mis10--------
    rs1902988981,2
    --7474205(+) ACGGCC/TCATGC 2 -- us2k10--------
    rs129449541,2
    C,F,H--7474362(+) atcccA/Ggctac 2 -- us2k15Minor allele frequency- G:0.01NS NA 400
    rs1814824621,2
    --7474403(+) CAGGAA/GGTGGA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for MPDU1 (7486847 - 7496107 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MPDU1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422288CNV Deletion17116639
    nsv457659CNV Loss19166990
    nsv907651CNV Loss21882294

    Human Gene Mutation Database (HGMD): MPDU1
    Locus Specific Mutation Databases (LSDB): MPDU1

    Site Specific Mutation Identification with PCR Assays
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    (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.)
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    OMIM gene information: 604041   
    OMIM disorders: 609180  
    UniProtKB/Swiss-Prot: MPU1_HUMAN, O75352
  • Congenital disorder of glycosylation 1F (CDG1F) [MIM:609180]: 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

  • 11 diseases for MPDU1:    
    About MalaCards
    congenital disorder of glycosylation type 1f    congenital disorder of glycosylation    congenital disorder of glycosylation, type it    cystinosis
    hypotonia    lung cancer susceptibility    lung cancer    malaria
    multiple myeloma    myeloma    prostatitis

    1 disease from the University of Copenhagen DISEASES database for MPDU1:
    Congenital disorder of glycosylation

    MPDU1 for disorders           About GeneDecksing

    GeneTests: MPDU1
    GeneReviews: MPDU1
    Genetic Association Database (GAD): MPDU1
    Human Genome Epidemiology (HuGE) Navigator: MPDU1 (4 documents)

    Export disorders for MPDU1 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)
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    PubMed articles for MPDU1 gene, integrated from 10 sources (see all 34):
    (articles sorted by number of sources associating them with MPDU1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If. (PubMed id 11733564)1, 2, 3 Schenk B.... Aebi M. (J. Clin. Invest. 2001)
    2. Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full- length cDNA cloning. (PubMed id 9653160)1, 2, 3 Mao M.... Chen Z. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    3. A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If). (PubMed id 11733556)1, 2, 9 Kranz C.... Marquardt T. (J. Clin. Invest. 2001)
    4. A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy. (PubMed id 22197929)1, 4 Yu X.Q....Liu J.J. (Nat. Genet. 2012)
    5. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (Eur. Urol. 2010)
    6. PTEN identified as important risk factor of chronic obstructive pulmonary disease. (PubMed id 19625176)1, 4 Hosgood H.D....Lan Q. (Respir Med 2009)
    7. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PubMed id 19170196)1, 4 Shen M....Lan Q. (Environ. Mol. Mutagen. 2009)
    8. Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway. (PubMed id 18676680)1, 4 Hosgood H.D....Lan Q. (Carcinogenesis 2008)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. Expression cloning of a novel suppressor of the Lec15 and Lec35 glycosylation mutations of Chinese hamster ovary cells. (PubMed id 8663248)1, 3 Ware F.E. and Lehrman M.A. (J. Biol. Chem. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 9526 HGNC: 7207 AceView: MPDU1 Ensembl:ENSG00000129255 euGenes: HUgn9526
    ECgene: MPDU1 H-InvDB: MPDU1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MPDU1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MPDU1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MPDU1 gene:
    Search GeneIP for patents involving MPDU1

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



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