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

DPM1 Gene

protein-coding   GIFtS: 68
GCID: GC20M049551

Dolichyl-Phosphate Mannosyltransferase Polypeptide 1, Catalytic...

Microbiology & Infectious Diseases Congress
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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-Phosphate Mannosyltransferase Polypeptide 1, Catalytic
Subunit1 2
     MPDS2 5
Dolichol-Phosphate Mannose Synthase2 3     Catalytic Subunit1
Dolichyl-Phosphate Beta-D-Mannosyltransferase2 3     DPM Synthase Complex1
Mannose-P-Dolichol Synthase2 3     Dolichol Monophosphate Mannose Synthase2
MPD Synthase2 3     Dolichol-Phosphate Mannosyltransferase2
EC 2.4.1.833 8     DPM Synthase Complex, Catalytic Subunit2
CDGIE2 5     DPM Synthase3

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

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 recurrent respiratory papillomatosis, and congenital disorder of glycosylation type 1e, and among its related super-pathways are WNT ligand biogenesis and trafficking and Synthesis of substrates in N-glycan biosythesis. 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

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NT_011362.10  NC_018931.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for DPM1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: DPM1_HUMAN, O60762 (See protein sequence)
Recommended Name: Dolichol-phosphate mannosyltransferase  
Size: 260 amino acids; 29634 Da
Subcellular location: Endoplasmic reticulum
Secondary accessions: O15157 Q6IB78

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

Explore proteomics data for DPM1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O60762

  • 4/7 DME Specific Peptides for DPM1 (O60762) (see all 7)
     YGESKLG  KHATGNY  TGSFRLY  IDDGSPDGT 

    DPM1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DPM1 Protein Expression
    REFSEQ proteins: NP_003850.1  
    ENSEMBL proteins: 
     ENSP00000360644   ENSP00000360638   ENSP00000360640   ENSP00000394921   ENSP00000360639  
    Reactome Protein details: O60762
    Human Recombinant Protein Products for DPM1: 
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    Cloud-Clone Corp. Proteins for DPM1 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    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 ----

    DPM1 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
    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


    DPM1 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: 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 activity: GDP-mannose + dolichyl phosphate = GDP + dolichyl D-mannosyl phosphate

         Enzyme Number (IUBMB): EC 2.4.1.831 2

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (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 ----
         
    DPM1 for ontologies           About GeneDecksing


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

    Animal Models:
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    Inhib. RNA
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    (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 DPM1 About   (see all 6)                                                                                              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
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein0.53
    Synthesis of substrates in N-glycan biosythesis0.53
    3Post-translational modification: synthesis of GPI-anchored proteins
    Post-translational modification: synthesis of GPI-anchored proteins0.79
    4Signaling by GPCR
    Signal Transduction0.55
    5Metabolism
    Metabolic pathways0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    5/10        Reactome Pathways for DPM1 (see all 10)
        Signaling by Wnt
    Synthesis of dolichyl-phosphate mannose
    Asparagine N-linked glycosylation
    Post-translational modification: synthesis of GPI-anchored proteins
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein


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

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


    DPM1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DPM1

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

    5/102 Interacting proteins for DPM1 (O607623 ENSP000003606444) via UniProtKB, MINT, STRING, and/or I2D (see all 102)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000096171P266403I2D: score=1 
    ENSG00000226589P266403I2D: score=1 
    VARSP266403I2D: score=1 
    MYCP011063, ENSP000003672074I2D: score=4 STRING: ENSP00000367207
    BRF2Q9HAW03, ENSP000002206594I2D: score=2 STRING: ENSP00000220659
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (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

    DPM1 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

    DPM1 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about DPM1

    (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 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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    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 

    24/476 AceView cDNA sequences (see all 476):

    AA295281 CR611307 CA865720 AA313163 AI990352 CA442427 BC007073 BG121452 
    CA314774 BM825875 AI571592 BC008427 AI701146 BQ270524 AA703016 BE018610 
    CA865473 AI571666 CD723866 AI879471 NM_003859 AW302194 BU786084 AW173486 

    GeneLoc Exon Structure

    5/6 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™, 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

    DPM1 expression in normal human tissues (normalized intensities)      DPM1 embryonic expression: see
    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 
     5/19 selected tissues (see all 19) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
             brain/midbrain   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             sensory organ/ear/inner ear   
     
     Eye (Sensory Organs)
             Retina
     
     Gut Tube (Gastrointestinal Tract)
             Foregut

    See DPM1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DPM1

    SOURCE GeneReport for Unigene cluster: Hs.654951
        SABiosciences Custom PCR Arrays for DPM1
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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DPM1 gene from 10/24 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 86.92(n)1
    91.15(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_417511.3  XP_417511.1 
    lizard
    (Anolis carolinensis)
    Reptilia DPM16
    Uncharacterized protein
    83(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
    Protein DPM-11
    64(a)3
    64.07(n)1
    65.37(a)1
      IV(445577-448335)3
    1768741  NM_067530.31  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 dolichol-phosphate mannosyltransferase 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
      --

    (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

    10/566 SNPs in DPM1 are shown (see all 566)    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_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--------
    rs1169454121,2
    C,F--49522421(+) GAAATT/CTGAGA 1 -- ds50011Minor allele frequency- C:0.01EA 120

    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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 16 diseases for DPM1:    About MalaCards
    recurrent respiratory papillomatosis    congenital disorder of glycosylation type 1e    hepatic vein thrombosis    bruxism
    choanal atresia    babesiosis    congenital disorder of glycosylation    thrombocytosis
    myelofibrosis    polycythemia    polycythemia vera    thrombosis
    pneumonia    tuberculosis    alcoholism    hepatitis

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

    DPM1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for DPM1 gene, integrated from 9 sources (see all 48):
    (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. (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. (1997)
    3. 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. (2000)
    4. Congenital disorder of glycosylation (CDG) type Ie. A new patient. (PubMed id 15669674)1, 2, 9 Garcia-Silva M.T.... Briones P. (2004)
    5. Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie. (PubMed id 10642602)1, 2, 9 Imbach T....Hennet T. (2000)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    7. 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)
    8. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    9. Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3. (PubMed id 10835346)1, 9 Maeda Y.... Kinoshita T. (2000)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 8813 HGNC: 3005 AceView: DPM1 Ensembl:ENSG00000000419 euGenes: HUgn8813
    ECgene: DPM1 Kegg: 8813 H-InvDB: DPM1

    (According to HUGE)
    About This Section
      --

    (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 DPM1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DPM1
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    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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