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POMGNT1 Gene

protein-coding   GIFtS: 64
GCID: GC01M046654

Protein O-Linked Mannose N-Acetylglucosaminyltransferase...

(Previous names: muscle-eye-brain disease, protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase)
(Previous symbol: MEB)
  See POMGNT1-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
Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta
1,2-)1 2
     LGMD2O2
MEB1 2 5     gnT-I.22
MGAT1.22 3     Protein O-Linked-Mannose Beta-1,2-N-Acetylglucosaminyltransferase 12
GnT I.22 3     EC 2.4.1.-3
UDP-GlcNAc:Alpha-D-Mannoside Beta-1,2-N-Acetylglucosaminyltransferase I.22 3     POMGnT13
2-N-acetylglucosaminyltransferase1     MDDGA35
Muscle-Eye-Brain Disease1     MDDGB35
Protein O-Linked Mannose Beta1,2-N-Acetylglucosaminyltransferase1     MDDGC35
Protein O-Mannose Beta-11     EC 2.4.18
GNTI.22     EC 2.4.1.1018

External Ids:    HGNC: 191391   Entrez Gene: 556242   Ensembl: ENSG000000859987   OMIM: 6068225   UniProtKB: Q8WZA13   

Export aliases for POMGNT1 gene to outside databases

Previous GC identifers: GC01M046367 GC01M044769


(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 POMGNT1 Gene:
This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in
O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be
associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced
transcript variants that encode different protein isoforms have been described. (provided by RefSeq, Feb 2014)

GeneCards Summary for POMGNT1 Gene:
POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)) is a protein-coding gene. Diseases associated with POMGNT1 include limb-girdle muscular dystrophy type 2o, and pomgnt1-related muscle diseases. GO annotations related to this gene include beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity. An important paralog of this gene is MGAT1.

UniProtKB/Swiss-Prot: PMGT1_HUMAN, Q8WZA1
Function: Participates in O-mannosyl glycosylation. May be responsible for the synthesis of the
GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins. Is specific
for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity

Gene Wiki entry for POMGNT1 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_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the POMGNT1 gene promoter:
         E2F-3a   Bach1   E2F-5   E2F-1   E2F   E2F-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPOMGNT1 promoter sequence
   Search Chromatin IP Primers for POMGNT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat POMGNT1


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

Entrez Gene cytogenetic band: 1p34.1   Ensembl cytogenetic band:  1p34.1   HGNC cytogenetic band: 1p34.1

POMGNT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POMGNT1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M046654:  view genomic region     (about GC identifiers)

Start:
46,654,353 bp from pter      End:
46,685,977 bp from pter
Size:
31,625 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for POMGNT1

(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: PMGT1_HUMAN, Q8WZA1 (See protein sequence)
Recommended Name: Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1  
Size: 660 amino acids; 75252 Da
Cofactor: Manganese
Sequence caution: Sequence=BAB14207.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: D3DQ16 Q5VST2 Q9BV55 Q9H9L8 Q9NXF9 Q9NYF7

Explore the universe of human proteins at neXtProt for POMGNT1: NX_Q8WZA1

Explore proteomics data for POMGNT1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys537, Lys538
  • Glycosylation2 at Thr524
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for POMGNT1 (Q8WZA1) (see all 7)
     ELEPKWP  GAVLFLL  RSLLSAQG  HRLLSEAEVLDHSK 


    See POMGNT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001230695.1  NP_001277058.1  NP_001277059.1  NP_060209.3  

    ENSEMBL proteins: 
     ENSP00000361052   ENSP00000361060   ENSP00000361054   ENSP00000443767   ENSP00000379698  

    POMGNT1 Human Recombinant Protein Products:

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    Novus Biologicals POMGNT1 Protein
    Novus Biologicals POMGNT1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for POMGNT1

     
    Search eBioscience for Proteins for POMGNT1 

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    Cloud-Clone Corp. ELISAs for POMGNT1
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    Search eBioscience for ELISAs for POMGNT1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR004139 Glyco_trans_13

    Graphical View of Domain Structure for InterPro Entry Q8WZA1

    ProtoNet protein and cluster: Q8WZA1

    UniProtKB/Swiss-Prot: PMGT1_HUMAN, Q8WZA1
    Domain: Amino acid residues between 299-311 are important for both protein expression and enzymatic activity. The
    minimal catalytic domain is located between positions 299-651. Single amino acid substitutions in the stem domain
    from MEB patients abolished the activity of the membrane-bound form but not the soluble form. This suggests that
    the stem domain of the soluble form is unnecessary for activity, but that some amino acids play a crucial role in
    the membrane-bound form
    Similarity: Belongs to the glycosyltransferase 13 family


    Find genes that share domains with POMGNT1           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: PMGT1_HUMAN, Q8WZA1
    Function: Participates in O-mannosyl glycosylation. May be responsible for the synthesis of the
    GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins. Is specific
    for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity
    Catalytic activity: UDP-N-acetyl-alpha-D-glucosamine + O-alpha-D-mannosylprotein = UDP +
    N-acetyl-beta-D-glucosaminyl-(1->2)-O-alpha-D-mannosylprotein
    Biophysicochemical properties: Kinetic parameters: KM=1.85 mM for mannosylpeptide; KM=0.73 mM for UDP-GlcNAc;
    KM=30 mM for Man(alpha1-)O-benzyl; KM=12 mM for CYA[Man(alpha1-)O-T]AV; pH dependence: Optimum pH is 6.0;

         Enzyme Numbers (IUBMB): EC 2.4.1.1012 EC 2.4.12 EC 2.4.1.-1

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008375acetylglucosaminyltransferase activity ----
    GO:0047223beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity IDA11742540
         
    Find genes that share ontologies with POMGNT1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for POMGNT1:
     Decreased Wnt reporter activit 

         13 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Pomgnt1):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     growth/size/body  homeostasis/metabolism  mortality/aging  muscle  nervous system 
     other  reproductive system  vision/eye 

    Find genes that share phenotypes with POMGNT1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for POMGNT1: Pomgnt1tm1.1Cfg Pomgnt1tm1Stk

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for POMGNT1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for POMGNT1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for POMGNT1

    miRNA
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    miRTarBase miRNAs that target POMGNT1:
    hsa-mir-92a-3p (MIRT049784), hsa-mir-103a-3p (MIRT048358), hsa-mir-222-3p (MIRT046794), hsa-mir-93-3p (MIRT038869), hsa-mir-330-5p (MIRT038246), hsa-mir-744-5p (MIRT037663)

    Block miRNA regulation of human, mouse, rat POMGNT1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate POMGNT1 (see all 14):
    hsa-miR-4324 hsa-miR-4303 hsa-miR-1283 hsa-miR-765 hsa-miR-3921 hsa-miR-199a-5p hsa-miR-544b hsa-miR-593
    SwitchGear 3'UTR luciferase reporter plasmidPOMGNT1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat POMGNT1

    Gene Editing
    Products:
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    Clone
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    Sino Biological Human cDNA Clone for POMGNT1
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    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for POMGNT1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POMGNT1


    (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
    PMGT1_HUMAN, Q8WZA1: Golgi apparatus membrane; Single-pass type II membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    plasma membrane3
    extracellular2
    cytosol1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with POMGNT1           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 POMGNT1 About    
    See pathways by source

    SuperPathContained pathways About
    1Other types of O-glycan biosynthesis
    Other types of O-glycan biosynthesis


    Find genes that share SuperPaths with POMGNT1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1 Kegg Pathway  (Kegg details for POMGNT1):
        Other types of O-glycan biosynthesis

    UniProtKB/Swiss-Prot: PMGT1_HUMAN, Q8WZA1
    Pathway: Protein modification; protein glycosylation

        Pathway & Disease-focused RT2 Profiler PCR Arrays including POMGNT1: 

              Glycosylation in human mouse rat
              Drug Metabolism: Phase II Enzymes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for POMGNT1

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

    5 Interacting proteins for POMGNT1 (ENSP000003610524) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    BRCA1ENSP000003502834STRING: ENSP00000350283
    IL8ENSP000003065124STRING: ENSP00000306512
    ZBTB18ENSP000003515394STRING: ENSP00000351539
    --ENSP000003369464STRING: ENSP00000336946
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006486protein glycosylation ----
    GO:0006493protein O-linked glycosylation IDA11709191

    Find genes that share ontologies with POMGNT1           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 POMGNT1 (PMGT1)

    2 HMDB Compounds for POMGNT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Manganesemanganese 7439-96-5--
    N-Acetyl-D-glucosamine2-(acetylamino)-2-deoxyhexose (see all 9)7512-17-6--

    2 Novoseek inferred chemical compound relationships for POMGNT1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alpha-d-mannoside 90.8 2 12417411 (1), 11742540 (1)
    mannose 61 10 15207699 (2), 12788071 (1), 14617637 (1), 15614444 (1) (see all 8)



    Find genes that share compounds with POMGNT1           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 POMGNT1 gene (4 alternative transcripts): 
    NM_001243766.1  NM_001290129.1  NM_001290130.1  NM_017739.3  

    Unigene Cluster for POMGNT1:

    Protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase
    Hs.525134  [show with all ESTs]
    Unigene Representative Sequence: NM_001243766
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371984(uc001cpe.3) ENST00000371992(uc001cpg.3) ENST00000475642
    ENST00000480972 ENST00000485714(uc001cph.1 uc001cpi.1) ENST00000463030
    ENST00000477114 ENST00000497439 ENST00000489985(uc001cpj.3) ENST00000371986
    ENST00000535522(uc010olx.2 uc010oly.2 uc010olz.2) ENST00000396420(uc001cpf.3)

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    Selected qRT-PCR Assays for microRNAs that regulate POMGNT1 (see all 14):
    hsa-miR-4324 hsa-miR-4303 hsa-miR-1283 hsa-miR-765 hsa-miR-3921 hsa-miR-199a-5p hsa-miR-544b hsa-miR-593
    SwitchGear 3'UTR luciferase reporter plasmidPOMGNT1 3' UTR sequence
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POMGNT1
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      QuantiTect SYBR Green Assays in human, mouse, rat POMGNT1
      QuantiFast Probe-based Assays in human, mouse, rat POMGNT1

    Additional mRNA sequence: 

    AB057356.1 AF250859.2 AK000284.1 AK022727.1 AK056186.1 AK225033.1 AK301923.1 AK302379.1 
    AK316399.1 AY358592.1 BC001471.2 

    Selected DOTS entries (see all 25):

    DT.101956608  DT.216543  DT.92408063  DT.95257762  DT.100793585  DT.40205562  DT.100793573  DT.92338177 
    DT.100793574  DT.102823507  DT.121350444  DT.100793575  DT.100793581  DT.102823508  DT.121350499  DT.100793582 
    DT.100838233  DT.121350438  DT.121350451  DT.95257726  DT.95257756  DT.97787168  DT.97847687  DT.121350491 

    Selected AceView cDNA sequences (see all 301):

    CA487542 BM981503 AI123507 BU855357 BM673834 BG255169 AY358592 BM929642 
    BU621570 BU687446 AF250859 BI835652 BQ186548 CA454539 BU543661 BM789870 
    AW470037 BQ227769 CA440064 BU147177 BQ963019 BM920738 AA349329 BQ881719 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for POMGNT1 (see all 12)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^
    SP1:                          -     -                 -                                                                 -                 -                     
    SP2:                                -                 -                                                                                                         
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:        -     -     -     -     -                 -                                                                                                         

    ExUns: 17a · 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b ^ 23a · 23b · 23c ^ 24a · 24b · 24c
    SP1:                          -                 -                                             
    SP2:                                                                                          
    SP3:                                                                                          
    SP4:                          -                 -                             -               
    SP5:                                                                                          


    ECgene alternative splicing isoforms for POMGNT1

    (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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    POMGNT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGACACAGA
    POMGNT1 Expression
    About this image


    POMGNT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
    POMGNT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    POMGNT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.525134

    UniProtKB/Swiss-Prot: PMGT1_HUMAN, Q8WZA1
    Tissue specificity: Constitutively expressed. An additional weaker band is also detected in spinal cord, lymph
    node, and trachea. Expressed especially in astrocytes. Also expressed in immature and mature neurons

        Pathway & Disease-focused RT2 Profiler PCR Arrays including POMGNT1: 
              Glycosylation in human mouse rat
              Drug Metabolism: Phase II Enzymes in human mouse rat

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    (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 animals.

    Orthologs for POMGNT1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pomgnt11 , 5 protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase5
    protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase1
    92.37(n)1
    98.64(a)1
      4 (53.10 cM)5
    682731  NM_026651.21  NP_080927.11 
     1161238405 
    chicken
    (Gallus gallus)
    Aves POMGNT11 protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 77.83(n)
    85.71(a)
      429097  XM_426653.4  XP_426653.3 
    lizard
    (Anolis carolinensis)
    Reptilia POMGNT16
    protein O-linked mannose N-acetylglucosaminyltrans...
    80(a)
    1 ↔ 1
    4(111857282-111891995)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.114592 Transcribed sequence with moderate similarity to protein more 78.09(n)    AL845782.2 
    zebrafish
    (Danio rerio)
    Actinopterygii pomgnt11 protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 72.27(n)
    79.66(a)
      571876  NM_001042687.3  NP_001036152.3 
    worm
    (Caenorhabditis elegans)
    Secernentea gly-126
    Protein GLY-12, isoform b
    19(a)
    1 ↔ 1
    X(7485864-7490696) WBGene00001637


    ENSEMBL Gene Tree for POMGNT1 (if available)
    TreeFam Gene Tree for POMGNT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for POMGNT1 gene
    MGAT12  
    1 SIMAP similar gene for POMGNT1 using alignment to 3 protein entries:     PMGT1_HUMAN (see all proteins):
    DKFZp761B182

    Find genes that share paralogs with POMGNT1           About GenesLikeMe



    (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 POMGNT1 (see all 785)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs743749731,2,,4
    C,FMuscular dystrophy-dystroglycanopathy limb-girdle C3 (MDDGC3)4 pathogenic146733358(+) GTGGTC/TCAGAA 4 N D mis13Minor allele frequency- T:0.01NA EU 5987
    rs289408691,2,,4
    CMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3)4 pathogenic146735782(-) TGTACC/TGTGTG 4 R C mis1 ese30--------
    VAR_0650214
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3)4--see VAR_0650212 T P mis40--------
    VAR_0231074
    Muscular dystrophy-dystroglycanopathy congenital with mental retardation B3 (MDDGB3)4--see VAR_0231072 C Y mis40--------
    VAR_0231044
    Muscular dystrophy-dystroglycanopathy congenital with mental retardation B3 (MDDGB3)4--see VAR_0231042 R Q mis40--------
    VAR_0231014
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3)4--see VAR_0231012 E K mis40--------
    VAR_0231054
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3)4--see VAR_0231052 W S mis40--------
    VAR_0650224
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3)4--see VAR_0650222 S R mis40--------
    VAR_0231034
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3)4--see VAR_0231032 C Y mis40--------
    VAR_0650244
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3)4--see VAR_0650242 D H mis40--------

    HapMap Linkage Disequilibrium report for POMGNT1 (46654353 - 46685977 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for POMGNT1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1137837CNV Insertion17803354
    esv270399CNV Insertion20981092
    nsv822520CNV Loss20364138
    nsv470711CNV Gain18288195
    nsv527878CNV Gain19592680

    Human Gene Mutation Database (HGMD): POMGNT1
    Locus Specific Mutation Databases (LSDB): POMGNT1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing POMGNT1
    DNA2.0 Custom Variant and Variant Library Synthesis for POMGNT1

    (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: 606822   
    OMIM disorders: 253280  613151  613157  
    UniProtKB/Swiss-Prot: PMGT1_HUMAN, Q8WZA1
  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280]:
    An autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, cobblestone
    lissencephaly, and cerebellar and pontine hypoplasia. Patients present severe congenital myopia, congenital
    glaucoma, pallor of the optic disks, retinal hypoplasia, mental retardation, hydrocephalus, abnormal
    electroencephalograms, generalized muscle weakness and myoclonic jerks. Included diseases are the more severe
    Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Muscular dystrophy-dystroglycanopathy congenital with mental retardation B3 (MDDGB3) [MIM:613151]: An
    autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation
    and mild structural brain abnormalities. Clinical features include mental retardation, white matter changes,
    cerebellar cysts, pontine hypoplasia, myopia, optic atrophy, decreased alpha-dystroglycan on muscle biopsy and
    increased serum creatine kinase. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Muscular dystrophy-dystroglycanopathy limb-girdle C3 (MDDGC3) [MIM:613157]: A rare form of limb-girdle
    muscular dystrophy with normal cognition. Muscle biopsy shows dystrophic changes with variable staining for
    glycosylated alpha-dystroglycan. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 13 diseases for POMGNT1:    
    About MalaCards
    limb-girdle muscular dystrophy type 2o    pomgnt1-related muscle diseases    muscular dystrophy-dystroglycanopathy , type a, 3    laryngomalacia
    muscular dystrophy-dystroglycanopathy , type c, 3    muscular dystrophy-dystroglycanopathy , type b, 3    brain disease    muscular dystrophy-dystroglycanopathy
    fukuyama congenital muscular dystrophy    muscular dystrophy-dystroglycanopathy , type b, 14    walker-warburg syndrome    muscular dystrophy-dystroglycanopathy , type a, 14
    muscular dystrophy-dystroglycanopathy , type a, 7

    3 diseases from the University of Copenhagen DISEASES database for POMGNT1:
    Lissencephaly     Myopathy     Neuropathy

    Find genes that share disorders with POMGNT1           About GenesLikeMe

    9 Novoseek inferred disease relationships for POMGNT1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    muscle-eye-brain disease 98.8 17 18195152 (2), 12417411 (1), 12849864 (1), 12966029 (1) (see all 16)
    walker-warburg syndrome 96.3 4 12966029 (1), 15605948 (1), 18939472 (1), 18646561 (1)
    muscular dystrophies 91 13 17030669 (2), 18195152 (2), 15605948 (1), 18330676 (1) (see all 11)
    mdc1c 90.1 1 12966029 (1)
    fukuyama congenital muscular dystrophy 89.9 2 15605948 (1), 18646561 (1)
    eye abnormalities 76.9 1 12966029 (1)
    muscular dystrophy limb-girdle 76.6 3 18195152 (2), 15605948 (1)
    mental retardation 45.7 1 18195152 (1)
    hydrocephalus 31.3 1 12588800 (1)

    Genetic Association Database (GAD): POMGNT1
    Human Genome Epidemiology (HuGE) Navigator: POMGNT1 (2 documents)

    Export disorders for POMGNT1 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 POMGNT1 gene, integrated from 10 sources (see all 74):
    (articles sorted by number of sources associating them with POMGNT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease. (PubMed id 12788071)1, 2, 3, 9 Manya H....Endo T. (Biochem. Biophys. Res. Commun. 2003)
    2. Cloning and expression of a novel UDP-GlcNAc:alpha-D-mannoside beta- 1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:alpha-3- D-mannoside beta-1,2-N-acetylglucosaminyltransferase I. (PubMed id 11742540)1, 2, 3, 9 Zhang W.... Schachter H. (Biochem. J. 2002)
    3. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. (PubMed id 19299310)1, 2, 4, 9 Mercuri E.... Bertini E. (Neurology 2009)
    4. Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1. (PubMed id 15207699)1, 2, 9 Akasaka-Manya K.... Endo T. (Biochem. Biophys. Res. Commun. 2004)
    5. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. (PubMed id 17878207)1, 4, 9 Godfrey C.... Muntoni F. (Brain 2007)
    6. Worldwide distribution and broader clinical spectrum of muscle-eye- brain disease. (PubMed id 12588800)1, 2, 9 Taniguchi K.... Toda T. (Hum. Mol. Genet. 2003)
    7. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. (PubMed id 11709191)1, 2, 9 Yoshida A.... Endo T. (Dev. Cell 2001)
    8. POMGnT1 gene alterations in a family with neurological abnormalities. (PubMed id 15236414)1, 2, 9 Vervoort V.S....Srivastava A.K. (Ann. Neurol. 2004)
    9. POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. (PubMed id 15466003)1, 2, 9 Diesen C.... Lehesjoki A.-E. (J. Med. Genet. 2004)
    10. Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry. (PubMed id 17370265)1, 2 Denis N.J.... Figeys D. (Proteomics 2007)

    (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: 55624 HGNC: 19139 AceView: FLJ20277 Ensembl:ENSG00000085998 euGenes: HUgn55624
    ECgene: POMGNT1 Kegg: 55624 H-InvDB: POMGNT1

    (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 POMGNT1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=POMGNT1[genesymbol]
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=POMGNT1
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_559

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for POMGNT1 gene:
    Search GeneIP for patents involving POMGNT1

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



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