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

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 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)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 8

Aliases
Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta
1,2-)1 2
     Muscle-Eye-Brain Disease1
MEB1 2 5     Protein O-Mannose Beta-11
Protein O-Linked Mannose Beta1,2-N-Acetylglucosaminyltransferase1 2     GNTI.22
MGAT1.22 3     LGMD2O2
GnT I.22 3     gnT-I.22
UDP-GlcNAc:Alpha-D-Mannoside Beta-1,2-N-Acetylglucosaminyltransferase I.22 3     Protein O-Linked-Mannose Beta-1,2-N-Acetylglucosaminyltransferase 12
MDDGA32 5     EC 2.4.1.-3
MDDGB32 5     POMGnT13
MDDGC32 5     EC 2.4.18
2-N-acetylglucosaminyltransferase1     EC 2.4.1.1018

External Ids:    HGNC: 191391   Entrez Gene: 556242   Ensembl: ENSG000000859987   OMIM: 6068225   UniProtKB: Q8WZA13   
ORGUL members:         
NONCODE14:n406850 n326630      

Export aliases for POMGNT1 gene to outside databases

Previous GC identifers: GC01M046367 GC01M044769


(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 POMGNT1 Gene:
The protein encoded by this gene is a type II transmembrane protein that resides in the golgi. It participates in
O-mannosyl glycosylation, and is specific for alpha linked terminal mannose. Mutations in this gene are
associated with muscle-eye-brain (MEB) disease. Alternatively spliced transcript variants have been found for
this gene.(provided by RefSeq, Oct 2008)

GeneCards Summary for POMGNT1 Gene: 
POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with POMGNT1 include muscle eye brain disease, and brain disease. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for POMGNT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein (Potential)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8WZA1

  • 4/7 DME Specific Peptides for POMGNT1 (Q8WZA1) (see all 7)
     ELEPKWP  GAVLFLL  RSLLSAQG  HRLLSEAEVLDHSK 

    POMGNT1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    POMGNT1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001230695.1  NP_060209.3  

    ENSEMBL proteins: 
     ENSP00000361052   ENSP00000361060   ENSP00000361054   ENSP00000443767   ENSP00000379698  

    Human Recombinant Protein Products for POMGNT1: 
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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 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    POMGNT1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for POMGNT1 
    Cloud-Clone Corp. CLIAs for POMGNT1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    POMGNT1 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: 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-D-glucosamine + Man-R = N-acetyl-D-glucosamine-beta-1,2-Man-R + UDP
    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 (GO ID links to tree view):    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
         
    POMGNT1 for ontologies           About GeneDecksing


    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  homeostasis/metabolism  mortality/aging  muscle  nervous system 
     other  reproductive system  vision/eye 

    POMGNT1 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for POMGNT1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for POMGNT1

       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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    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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    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POMGNT1


    (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 POMGNT1 About                                                                                                See pathways by source

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

    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


    POMGNT1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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 (GO ID links to tree view):    About this table

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

    POMGNT1 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

    POMGNT1 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about POMGNT1 / PMGT1

    (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 POMGNT1 gene (2 alternative transcripts): 
    NM_001243766.1  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)

    miRNA
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    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 

    24/25 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 

    24/301 AceView cDNA sequences (see all 301):

    BU620700 AI123535 AA918249 BI789092 BU621570 AF250859 BQ963019 AA357509 
    BQ881719 BE514702 AA970316 CK819776 CB112287 AI123507 W42602 BM673834 
    AA326891 AA349329 BQ932792 F11377 BM353060 BQ186548 BM676340 BM795304 

    GeneLoc Exon Structure

    5/12 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™, 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

    POMGNT1 expression in normal human tissues (normalized intensities)      POMGNT1 embryonic expression: see
    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 
     5/1 selected tissues (see all 1) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex

     -- (Nervous System)
             mouse/organ system/nervous system/central nervous system   

    See POMGNT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for POMGNT1

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including POMGNT1: 
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              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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for POMGNT1 gene from 7/14 species (see all 14)    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-acetylglucosaminyltransferase1, 5 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 77.88(n)
    85.71(a)
      429097  XM_426653.3  XP_426653.3 
    lizard
    (Anolis carolinensis)
    Reptilia POMGNT16
    Uncharacterized protein
    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 72.32(n)
    79.82(a)
      571876  NM_001042687.3  NP_001036152.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mgat16
    UDP-GlcNAc:a-3-D-mannoside-beta-1,2-N-acetylglucos...
    21(a)
    1 → many
    2R(16446661-16449834)
    worm
    (Caenorhabditis elegans)
    Secernentea gly-146
    gly-136
    (see all 3)
    Protein GLY-14
    Putative alpha-1,3-mannosyl-glycoprotein 2-beta-N-...
    (see all 3)
    24(a)
    19(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    III(3490336-3493234)
    X(9293666-9296622)


    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)
    About This Section
    Paralogs for POMGNT1 gene
    MGAT12  
    1 SIMAP similar gene for POMGNT1 using alignment to 3 protein entries:     PMGT1_HUMAN (see all proteins):
    DKFZp761B182

    POMGNT1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) 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

    10/785 SNPs in POMGNT1 are shown (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
    ----------
    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--------
    VAR_0650234
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3)4--see VAR_0650232 R H mis40--------
    VAR_0231094
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3)4--see VAR_0231092 S N 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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/29 diseases for POMGNT1 (see all 29):    About MalaCards
    muscle eye brain disease    brain disease    limb-girdle muscular dystrophy type 2o    laryngomalacia
    pomgnt1-related muscle diseases    muscular dystrophy-dystroglycanopathy    fukuyama congenital muscular dystrophy    neuronal migration disorders
    congenital muscular dystrophy    walker-warburg syndrome    cerebellar hypoplasia    limb-girdle muscular dystrophy
    lissencephaly    optic atrophy    coloboma    hydrocephalus
    muscular dystrophy    myopia    microcephaly    intellectual disability

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

    POMGNT1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for POMGNT1 gene, integrated from 9 sources (see all 73):
    (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. (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. (2002)
    3. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. (PubMed id 19299310)1, 2, 4, 9 Mercuri E....Bertini E. (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. (2004)
    5. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. (PubMed id 17878207)1, 4, 9 Godfrey C....Muntoni F. (2007)
    6. Worldwide distribution and broader clinical spectrum of muscle-eye- brain disease. (PubMed id 12588800)1, 2, 9 Taniguchi K.... Toda T. (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. (2001)
    8. POMGnT1 gene alterations in a family with neurological abnormalities. (PubMed id 15236414)1, 2, 9 Vervoort V.S....Srivastava A.K. (2004)
    9. POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. (PubMed id 15466003)1, 2, 9 Diesen C.... Lehesjoki A.-E. (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. (2007)

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

    (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 POMGNT1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/POMGNT1
    GGDBhttp://riodb.ibase.aist.go.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.)
    About This Section
    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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