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DPM1 Gene

protein-coding   GIFtS: 69
GCID: GC20M049551

Dolichyl-Phosphate Mannosyltransferase Polypeptide 1, Catalytic...

  See DPM1-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
Dolichyl-Phosphate Mannosyltransferase Polypeptide 1, Catalytic
Subunit1 2
     CDGIE2 5
Dolichol-Phosphate Mannose Synthase Subunit 12 3     MPDS2 5
Dolichyl-Phosphate Beta-D-Mannosyltransferase Subunit 12 3     Catalytic Subunit1
Mannose-P-Dolichol Synthase Subunit 12 3     DPM Synthase Complex1
DPM Synthase Subunit 12 3     Dolichol Monophosphate Mannose Synthase2
MPD Synthase Subunit 12 3     Dolichol-Phosphate Mannosyltransferase Subunit 12
EC 2.4.1.833 8     DPM Synthase Complex, Catalytic Subunit2

External Ids:    HGNC: 30051   Entrez Gene: 88132   Ensembl: ENSG000000004197   OMIM: 6035035   UniProtKB: O607623   

Export aliases for DPM1 gene to outside databases

Previous GC identifers: GC20M049279 GC20M050189 GC20M050236 GC20M048985 GC20M046299


(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 DPM1 Gene:
Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the
endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins.
Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme
dolichyl-phosphate mannosyltransferase. Human DPM1 lacks a carboxy-terminal transmembrane domain and signal
sequence and is regulated by DPM2. (provided by RefSeq, Jul 2008)

GeneCards Summary for DPM1 Gene:
DPM1 (dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit) is a protein-coding gene. Diseases associated with DPM1 include congenital disorder of glycosylation type 1e, and recurrent respiratory papillomatosis. GO annotations related to this gene include dolichyl-phosphate beta-D-mannosyltransferase activity and mannose binding.

UniProtKB/Swiss-Prot: DPM1_HUMAN, O60762
Function: Transfers mannose from GDP-mannose to dolichol monophosphate to form dolichol phosphate mannose
(Dol-P-Man) which is the mannosyl donor in pathways leading to N-glycosylation, glycosyl phosphatidylinositol
membrane anchoring, and O-mannosylation of proteins; catalytic subunit of the dolichol-phosphate mannose (DPM)
synthase complex

Gene Wiki entry for DPM1 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 at NCBI GenBank:
NC_000020.10  NT_011362.11  NC_018931.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DPM1 gene promoter:
         Max1   CUTL1   STAT5A   C/EBPalpha   NRF-2   HOXA5   COMP1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDPM1 promoter sequence
   Search Chromatin IP Primers for DPM1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DPM1


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

Entrez Gene cytogenetic band: 20q13.13   Ensembl cytogenetic band:  20q13.13   HGNC cytogenetic band: 20q13.1

DPM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DPM1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M049551:  view genomic region     (about GC identifiers)

Start:
49,551,404 bp from pter      End:
49,575,092 bp from pter
Size:
23,689 bases      Orientation:
minus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DPM1_HUMAN, O60762 (See protein sequence)
Recommended Name: Dolichol-phosphate mannosyltransferase subunit 1  
Size: 260 amino acids; 29634 Da
Subunit: Component of the dolichol-phosphate mannose (DPM) synthase complex composed of DPM1, DPM2 and DPM3; in
the complex interacts directly with DPM3
Secondary accessions: O15157 Q6IB78 Q96HK0

Explore the universe of human proteins at neXtProt for DPM1: NX_O60762

Explore proteomics data for DPM1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys26, Lys80, Lys95, Lys240
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for DPM1 (O60762) (see all 7)
     YGESKLG  KHATGNY  TGSFRLY  IDDGSPDGT 


    See DPM1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003850.1  
    ENSEMBL proteins: 
     ENSP00000360644   ENSP00000360638   ENSP00000360640   ENSP00000394921   ENSP00000360639  
    Reactome Protein details: O60762

    DPM1 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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    HGNC Gene Families:
    GLT2: Glycosyltransferase family 2 domain containing

    1 InterPro protein domain:
     IPR001173 Glyco_trans_2

    Graphical View of Domain Structure for InterPro Entry O60762

    ProtoNet protein and cluster: O60762

    1 Blocks protein domain: IPB001173 Glycosyl transferase

    UniProtKB/Swiss-Prot: DPM1_HUMAN, O60762
    Similarity: Belongs to the glycosyltransferase 2 family


    Find genes that share domains with DPM1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DPM1_HUMAN, O60762
    Function: Transfers mannose from GDP-mannose to dolichol monophosphate to form dolichol phosphate mannose
    (Dol-P-Man) which is the mannosyl donor in pathways leading to N-glycosylation, glycosyl phosphatidylinositol
    membrane anchoring, and O-mannosylation of proteins; catalytic subunit of the dolichol-phosphate mannose (DPM)
    synthase complex
    Catalytic activity: GDP-mannose + dolichyl phosphate = GDP + dolichyl D-mannosyl phosphate

         Enzyme Number (IUBMB): EC 2.4.1.831 2

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004169dolichyl-phosphate-mannose-protein mannosyltransferase activity IDA9535917
    GO:0004582dolichyl-phosphate beta-D-mannosyltransferase activity IDA10835346
    GO:0005515protein binding IPI10835346
    GO:0005537mannose binding IEA--
    GO:0016757transferase activity, transferring glycosyl groups ----
         
    Find genes that share ontologies with DPM1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for DPM1:
     Decreased Tat-dependent transc 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DPM1
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    miRNA
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    miRTarBase miRNAs that target DPM1:
    hsa-mir-18b-5p (MIRT042406), hsa-mir-26b-5p (MIRT029861)

    Block miRNA regulation of human, mouse, rat DPM1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate DPM1
    SwitchGear 3'UTR luciferase reporter plasmidDPM1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DPM1

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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
    DPM1_HUMAN, O60762: Endoplasmic reticulum
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    cytosol2
    nucleus2
    golgi apparatus1
    mitochondrion1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA9724629
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016020membrane IDA9535917
    GO:0033185dolichol-phosphate-mannose synthase complex IDA10835346
    GO:0043231intracellular membrane-bounded organelle ----

    Find genes that share ontologies with DPM1           About GenesLikeMe


    (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 DPM1 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
    Metabolism of proteins0.30
    N-Glycan biosynthesis0.49
    Synthesis of substrates in N-glycan biosythesis0.00
    Post-translational protein modification0.43
    Synthesis of dolichyl-phosphate mannose0.00
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein0.38
    2Post-translational modification- synthesis of GPI-anchored proteins
    Post-translational modification- synthesis of GPI-anchored proteins0.76
    3Metabolism
    Metabolic pathways0.38


    Find genes that share SuperPaths with DPM1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for DPM1
        Synthesis of dolichyl-phosphate mannose


    2 Kegg Pathways  (Kegg details for DPM1):
        N-Glycan biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: DPM1_HUMAN, O60762
    Pathway: Protein modification; protein glycosylation

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DPM1
    Interactions:

        GeneGlobe Interaction Network for DPM1

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

    Selected Interacting proteins for DPM1 (O607623 ENSP000003606444) via UniProtKB, MINT, STRING, and/or I2D (see all 145)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000096171P266403I2D: score=1 
    ENSG00000224264P266403I2D: score=1 
    ENSG00000226589P266403I2D: score=1 
    ENSG00000231116P266403I2D: score=1 
    VARSP266403I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006488dolichol-linked oligosaccharide biosynthetic process TAS--
    GO:0006501C-terminal protein lipidation TAS--
    GO:0006506GPI anchor biosynthetic process IDA10835346
    GO:0018279protein N-linked glycosylation via asparagine TAS--
    GO:0019348dolichol metabolic process IDA9535917

    Find genes that share ontologies with DPM1           About GenesLikeMe



    (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 DPM1

    5 HMDB Compounds for DPM1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Dolichol phosphatedolichol-phosphate (see all 6)34457-14-2--
    Dolichol-20Dolichol (C100) (see all 5)2067-66-5--
    Dolichyl phosphate D-mannoseDolichyl D-mannosyl phosphate (see all 4)908211-94-9--
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine diphosphate mannoseGDP mannose (see all 7)3123-67-9--

    1 Novoseek inferred chemical compound relationship for DPM1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mannose 67.1 1 16284928 (1)



    Find genes that share compounds with DPM1           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DPM1 gene: 
    NM_003859.1  

    Unigene Cluster for DPM1:

    Dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
    Hs.654951  [show with all ESTs]
    Unigene Representative Sequence: BF217743
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371588(uc002xvw.1) ENST00000466152(uc002xvx.1) ENST00000371582
    ENST00000494752 ENST00000371584 ENST00000413082 ENST00000371583
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat DPM1

    Additional mRNA sequence: 

    AF007875.1 AK289569.1 BC007073.1 BC008427.1 BC008466.1 BC016322.1 CR456926.1 D86198.1 

    19 DOTS entries:

    DT.100796659  DT.120801461  DT.446160  DT.100796658  DT.95229816  DT.120801483  DT.100796661  DT.120801513 
    DT.120801535  DT.95229800  DT.95229805  DT.70103349  DT.100765424  DT.120801441  DT.431688  DT.92461445 
    DT.95229803  DT.120801476  DT.97764499 

    Selected AceView cDNA sequences (see all 476):

    AA295281 BG121452 BM825875 CA442427 CA314774 CR611307 BM311079 BM457694 
    AI571592 BC008427 BC007073 AI917438 CF128068 CD641038 BM676390 AA719250 
    CB145704 BM552526 BM713274 BM971563 BC016322 BP354868 D86198 T35243 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DPM1 (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d
    SP1:              -                 -           -     -                                       
    SP2:                                                                                          
    SP3:                                            -     -                                       
    SP4:                                                  -                                       
    SP5:                                            -     -     -                                 


    ECgene alternative splicing isoforms for DPM1

    (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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    DPM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CATCTTTTTA
    DPM1 Expression
    About this image


    DPM1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Eye (Sensory Organs)
             Lens
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Adrenal Gland (Endocrine System)
    DPM1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DPM1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654951
        Custom PCR Arrays for DPM1
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat DPM1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DPM1

    (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 DPM1 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dpm11 , 5 dolichol-phosphate (beta-D) mannosyltransferase 11, 5 88.93(n)1
    95.02(a)1
      2 (88.46 cM)5
    134801  NM_010072.31  NP_034202.11 
     1682090485 
    chicken
    (Gallus gallus)
    Aves DPM11 dolichyl-phosphate mannosyltransferase polypeptide more 81.5(n)
    91.1(a)
      419349  XM_417511.4  XP_417511.1 
    lizard
    (Anolis carolinensis)
    Reptilia DPM16
    dolichyl-phosphate mannosyltransferase polypeptide...
    84(a)
    1 ↔ 1
    GL343226.1(2010217-2081021)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.28122 Xenopus laevis transcribed sequence with moderate similarity more 79.26(n)    BX843875.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.129342 Transcribed sequence with moderate similarity to protein more 75.73(n)    CA474488.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG101661 , 3 protein amino acid glycosylation
    dolichyl-phosphate
    more3
    CG101661
    75(a)3
    65.68(n)1
    75(a)1
      37E53
    352401  NM_136136.21  NP_609980.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y66H1A.23
    dpm-11
    dolichol-phosphate mannosyltransferase3
    dpm-11
    64(a)3
    64.07(n)1
    65.37(a)1
      IV(445577-448335)3
    1768741  NM_067530.41  NP_499931.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DPM1(YPR183W)4 Dolichol phosphate mannose (Dol-P-Man) synthase of more   --   16(900755-901558) 856313  NP_015509.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G205751 AT1G20575 61.32(n)
    63.79(a)
      838646  NM_101908.3  NP_564118.1 
    rice
    (Oryza sativa)
    Liliopsida Os.74482 Oryza sativa (japonica cultivar-group) cDNA clone0 more 73.06(n)    AK070153.1 


    ENSEMBL Gene Tree for DPM1 (if available)
    TreeFam Gene Tree for DPM1 (if available)

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

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    (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 DPM1 (see all 567)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0123414
    Congenital disorder of glycosylation 1E (CDG1E)4--see VAR_0123412 R G mis40--------
    VAR_0705924
    Congenital disorder of glycosylation 1E (CDG1E)4--see VAR_0705922 G V mis40--------
    VAR_0198414
    Congenital disorder of glycosylation 1E (CDG1E)4--see VAR_0198412 S P mis40--------
    rs1219085831,2
    Cpathogenic149536359(-) GACCAC/GGAGAG 2 R G mis11Minor allele frequency- A:0.00NA 4550
    rs1470787771,2
    Cuntested149547212(+) GTGGCC/G/TCTTGC 1 -- us2k10--------
    rs567160801,2
    C--46306464(+) ATATA-/TATT/T
    ATTCATATA
    CATAT
    1 -- int10--------
    rs1898947371,2
    --49522306(+) ATTCAA/CAATAT 1 -- ds50010--------
    rs1470664551,2
    C--49522321(+) TTTAA-/ATAGAC
    CTGCTTTG
    ATAGA
    1 -- ds50010--------
    rs1459629681,2
    --49522364(+) AACAGA/CTGAAA 1 -- ds50010--------
    rs1811769391,2
    --49522376(+) GAACCA/GAACTG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for DPM1 (49551404 - 49575092 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for DPM1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv834002CNV Loss17160897

    Human Gene Mutation Database (HGMD): DPM1
    Locus Specific Mutation Databases (LSDB): DPM1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DPM1
    DNA2.0 Custom Variant and Variant Library Synthesis for DPM1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603503   
    OMIM disorders: 608799  
    UniProtKB/Swiss-Prot: DPM1_HUMAN, O60762
  • Congenital disorder of glycosylation 1E (CDG1E) [MIM:608799]: 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. Some CDG1E patients have features consistent with a dystroglycanopathy and
    congenital muscular dystrophy, including O-mannosylation defect, camptodactyly, elevated creatine kinase, motor
    delay and dystrophic changes on muscel biopsy. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 2 diseases for DPM1:    
    About MalaCards
    congenital disorder of glycosylation type 1e    recurrent respiratory papillomatosis

    1 disease from the University of Copenhagen DISEASES database for DPM1:
    Congenital disorder of glycosylation

    Find genes that share disorders with DPM1           About GenesLikeMe

    1 Novoseek inferred disease relationship for DPM1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    congenital disorders 80 2 10642597 (1)

    GeneTests: DPM1
    GeneReviews: DPM1
    Genetic Association Database (GAD): DPM1
    Human Genome Epidemiology (HuGE) Navigator: DPM1 (1 document)

    Export disorders for DPM1 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 DPM1 gene, integrated from 10 sources (see all 53):
    (articles sorted by number of sources associating them with DPM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A homologue of Saccharomyces cerevisiae Dpm1p is not sufficient for synthesis of dolichol-phosphate-mannose in mammalian cells. (PubMed id 9535917)1, 2, 3, 9 Tomita S.... Kinoshita T. (J. Biol. Chem. 1998)
    2. Human and Saccharomyces cerevisiae dolichol phosphate mannose synthases represent two classes of the enzyme, but both function in Schizosaccharomyces pombe. (PubMed id 9223280)1, 2, 3, 9 Colussi P.A.... Orlean P. (Proc. Natl. Acad. Sci. U.S.A. 1997)
    3. Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3. (PubMed id 10835346)1, 2, 9 Maeda Y.... Kinoshita T. (EMBO J. 2000)
    4. Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie). (PubMed id 10642597)1, 2, 9 Kim S.... Freeze H.H. (J. Clin. Invest. 2000)
    5. Congenital disorder of glycosylation (CDG) type Ie. A new patient. (PubMed id 15669674)1, 2, 9 Garcia-Silva M.T.... Briones P. (J. Inherit. Metab. Dis. 2004)
    6. Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie. (PubMed id 10642602)1, 2, 9 Imbach T....Hennet T. (J. Clin. Invest. 2000)
    7. DPM1, the catalytic subunit of dolichol-phosphate mannose synthase, is tethered to and stabilized on the endoplasmic reticulum membrane by DPM3. (PubMed id 16280320)1, 2 Ashida H....Kinoshita T. (J. Biol. Chem. 2006)
    8. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    9. 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. (Genome Res. 2004)
    10. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)

    (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: 8813 HGNC: 3005 AceView: DPM1 Ensembl:ENSG00000000419 euGenes: HUgn8813
    ECgene: DPM1 Kegg: 8813 H-InvDB: DPM1

    (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 DPM1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=DPM1[genesymbol]
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=DPM1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DPM1 gene:
    Search GeneIP for patents involving DPM1

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



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