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PGM3 Gene

protein-coding   GIFtS: 63
GCID: GC06M083876

Phosphoglucomutase 3

  See PGM3-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
Phosphoglucomutase 31 2     N-Acetylglucosamine-Phosphate Mutase 12
Acetylglucosamine Phosphomutase1 2 3     Phosphoacetylglucosamine Mutase2
AGM12 3 5     Phosphoglucomutase-33
PAGM2 3     N-Acetylglucosamine-Phosphate Mutase3
PGM 32 3     EC 5.4.28
EC 5.4.2.33 8     

External Ids:    HGNC: 89071   Entrez Gene: 52382   Ensembl: ENSG000000133757   OMIM: 1721005   UniProtKB: O953943   

Export aliases for PGM3 gene to outside databases

Previous GC identifers: GC06U990094 GC06M083841 GC06M083874 GC06M083935 GC06M081106


(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 PGM3 Gene:
This gene encodes a member of the phosphohexose mutase family. The encoded protein mediates both glycogen
formation and utilization by catalyzing the interconversion of glucose-1-phosphate and glucose-6-phosphate. A
non-synonymous single nucleotide polymorphism in this gene may play a role in resistance to diabetic nephropathy
and neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this
gene. (provided by RefSeq, Dec 2010)

GeneCards Summary for PGM3 Gene:
PGM3 (phosphoglucomutase 3) is a protein-coding gene. Diseases associated with PGM3 include immunodeficiency 23, and diabetic nephropathy. GO annotations related to this gene include magnesium ion binding and phosphoacetylglucosamine mutase activity.

UniProtKB/Swiss-Prot: AGM1_HUMAN, O95394
Function: Interconverts GlcNAc-6-P and GlcNAc-1-P

Gene Wiki entry for PGM3 (Phosphoglucomutase 3) 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_000006.11  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PGM3 gene promoter:
         MyoD   Pax-2   Pax-2a   POU3F2   Evi-1   RORalpha1   Sox9   Msx-1   ATF6   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPGM3 promoter sequence
   Search Chromatin IP Primers for PGM3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PGM3


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

Entrez Gene cytogenetic band: 6q14.1-q15   Ensembl cytogenetic band:  6q14.2   HGNC cytogenetic band: 6q14.1-q15

PGM3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PGM3 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M083876:  view genomic region     (about GC identifiers)

Start:
83,870,869 bp from pter      End:
83,903,655 bp from pter
Size:
32,787 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AGM1_HUMAN, O95394 (See protein sequence)
Recommended Name: Phosphoacetylglucosamine mutase  
Size: 542 amino acids; 59852 Da
Cofactor: Binds 1 magnesium ion per subunit (By similarity)
Sequence caution: Sequence=BAB14652.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B2RB65 B4DX94 D6RF12 E1P547 E9PF86 Q5JWR4 Q96J46 Q9H8G5 Q9NS94 Q9NTT6
Q9UFV5 Q9UIY2
Alternative splicing: 3 isoforms:  O95394-1   O95394-3   O95394-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PGM3: NX_O95394

Explore proteomics data for PGM3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys8
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PGM3 (O95394) (see all 5)
     TGVKHLH  QTAYANG  FDGDADR  FEANGHGT 


    See PGM3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001186846.1  NP_001186847.1  NP_001186848.1  NP_056414.1  

    ENSEMBL proteins: 
     ENSP00000421154   ENSP00000424874   ENSP00000421565   ENSP00000283977   ENSP00000425809  
     ENSP00000423389   ENSP00000427420   ENSP00000423769   ENSP00000425558   ENSP00000474029  
     ENSP00000424865   ENSP00000422362  
    Reactome Protein details: O95394

    PGM3 Human Recombinant Protein Products:

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    Novus Biologicals PGM3 Protein
    Novus Biologicals PGM3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PGM3

     
    Search eBioscience for Proteins for PGM3 

    PGM3 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    PGM3 Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PGM3
    Cloud-Clone Corp. CLIAs for PGM3
    Search eBioscience for ELISAs for PGM3 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR005843 A-D-PHexomutase_C
     IPR016066 A-D-PHexomutase_CS
     IPR016055 A-D-PHexomutase_a/b/a-I/II/III
     IPR016657 PAGM
     IPR005844 A-D-PHexomutase_a/b/a-I

    Graphical View of Domain Structure for InterPro Entry O95394

    ProtoNet protein and cluster: O95394

    UniProtKB/Swiss-Prot: AGM1_HUMAN, O95394
    Similarity: Belongs to the phosphohexose mutase family


    Find genes that share domains with PGM3           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: AGM1_HUMAN, O95394
    Function: Interconverts GlcNAc-6-P and GlcNAc-1-P
    Catalytic activity: N-acetyl-alpha-D-glucosamine 1-phosphate = N-acetyl-D-glucosamine 6-phosphate

         Genatlas biochemistry entry for PGM3:
    phosphoglucomutase 3

         Enzyme Numbers (IUBMB): EC 5.4.2.31 2 EC 5.4.22

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IEA--
    GO:0004610phosphoacetylglucosamine mutase activity IDA11004509
    GO:0004614phosphoglucomutase activity IEA--
    GO:0016868intramolecular transferase activity, phosphotransferases ----
         
    Find genes that share ontologies with PGM3           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for PGM3:
     Increased gamma-H2AX phosphory  Wnt reporter downregulated 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Pgm3):
     digestive/alimentary  endocrine/exocrine gland  hematopoietic system  immune system  mortality/aging 
     renal/urinary system  reproductive system 

    Find genes that share phenotypes with PGM3           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PGM3
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PGM3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PGM3

    miRNA
    Products:
        
    miRTarBase miRNAs that target PGM3:
    hsa-mir-215-5p (MIRT024516), hsa-mir-125a-5p (MIRT045722), hsa-mir-30b-5p (MIRT023451), hsa-mir-192-5p (MIRT026705), hsa-let-7b-5p (MIRT032419), hsa-mir-455-3p (MIRT037885)

    Block miRNA regulation of human, mouse, rat PGM3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PGM3 (see all 51):
    hsa-miR-411* hsa-miR-579 hsa-miR-361-5p hsa-miR-379* hsa-miR-3653 hsa-miR-30d hsa-miR-192 hsa-miR-550a*
    SwitchGear 3'UTR luciferase reporter plasmidPGM3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PGM3
    Predesigned siRNA for gene silencing in human, mouse, rat PGM3

    Gene Editing
    Products:
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): PGM3 (NM_001199918)
    Sino Biological Human cDNA Clone for PGM3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PGM3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PGM3

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PGM3


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton3
    cytosol3
    nucleus3
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005829cytosol TAS--

    Find genes that share ontologies with PGM3           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 PGM3 About    
    See pathways by source

    SuperPathContained pathways About
    1Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Asparagine N-linked glycosylation0.49
    Metabolism of proteins0.30
    Post-translational protein modification0.43
    Synthesis of substrates in N-glycan biosythesis0.00
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein0.38
    Synthesis of UDP-N-acetyl-glucosamine0.00
    2Glucuronidation
    Glucuronidation0.61
    3Amino sugar and nucleotide sugar metabolism
    Amino sugar and nucleotide sugar metabolism


    Find genes that share SuperPaths with PGM3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for PGM3
        Glucuronidation


    1 Reactome Pathway for PGM3
        Synthesis of UDP-N-acetyl-glucosamine


    1 Kegg Pathway  (Kegg details for PGM3):
        Amino sugar and nucleotide sugar metabolism

    UniProtKB/Swiss-Prot: AGM1_HUMAN, O95394
    Pathway: Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D-glucosamine biosynthesis;
    N-acetyl-alpha-D-glucosamine 1-phosphate from alpha-D-glucosamine 6-phosphate (route I): step 2/2

        Pathway & Disease-focused RT2 Profiler PCR Array including PGM3: 

              Glucose Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PGM3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for PGM3 (O953943 ENSP000002839774) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    WRNIP1Q96S553, ENSP000003701504I2D: score=4 STRING: ENSP00000370150
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    EIF4A2Q142403I2D: score=5 
    RABGGTBP536113I2D: score=5 
    SPTBN1Q010823I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process ----
    GO:0006041glucosamine metabolic process NAS11004509
    GO:0006048UDP-N-acetylglucosamine biosynthetic process TAS--
    GO:0006488dolichol-linked oligosaccharide biosynthetic process TAS--
    GO:0007283spermatogenesis IEA--

    Find genes that share ontologies with PGM3           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 PGM3 (AGM1)

    4 HMDB Compounds for PGM3    About this table
    CompoundSynonyms CAS #PubMed Ids
    D-Ribose 5-phosphateD-Ribose 5-phosphate (see all 11)3615-55-2--
    D-Ribulose 5-phosphateD-Ribulose 5-phosphate (see all 5)4151-19-3--
    Glucose 1-phosphateCori ester (see all 22)59-56-3--
    MagnesiumMagnesium (see all 2)7439-95-4--



    (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 PGM3 gene (4 alternative transcripts): 
    NM_001199917.1  NM_001199918.1  NM_001199919.1  NM_015599.2  

    Unigene Cluster for PGM3:

    Phosphoglucomutase 3
    Hs.661665  [show with all ESTs]
    Unigene Representative Sequence: NM_001199917
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000504780 ENST00000513973(uc003pju.2 uc003pjw.3 uc011dyz.2 uc021zcd.1)
    ENST00000512866 ENST00000283977 ENST00000506587 ENST00000509219 ENST00000507404
    ENST00000510258 ENST00000505470 ENST00000507554 ENST00000605602 ENST00000508748
    ENST00000503094 ENST00000515333
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PGM3 (see all 51):
    hsa-miR-411* hsa-miR-579 hsa-miR-361-5p hsa-miR-379* hsa-miR-3653 hsa-miR-30d hsa-miR-192 hsa-miR-550a*
    SwitchGear 3'UTR luciferase reporter plasmidPGM3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PGM3
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 4): PGM3 (NM_001199918)
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      QuantiTect SYBR Green Assays in human, mouse, rat PGM3
      QuantiFast Probe-based Assays in human, mouse, rat PGM3

    Additional mRNA sequence: 

    AB032081.1 AF102265.1 AF180371.1 AK001365.1 AK021676.1 AK023432.1 AK023685.1 AK023709.1 
    AK225363.1 AK301867.1 AK314512.1 AL117443.1 BC001258.1 

    21 DOTS entries:

    DT.214469  DT.100834022  DT.97794023  DT.100824253  DT.121328750  DT.99979335  DT.95178678  DT.95178650 
    DT.75131298  DT.91899906  DT.121328735  DT.101967083  DT.121328689  DT.121328701  DT.121328714  DT.121328747 
    DT.121328755  DT.40129874  DT.97778253  DT.99933860  DT.99951655 

    Selected AceView cDNA sequences (see all 221):

    BM803519 AA599539 AK023685 AK001365 BQ014102 NM_015599 CA414012 CB124550 
    BM477301 BU507433 BQ694966 AI810133 BU618171 AL521710 AF180371 CA425236 
    AA884440 CA943055 AK023432 AI745058 BC001258 BX483923 AA676895 AA452468 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for PGM3    About this scheme

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


    ECgene alternative splicing isoforms for PGM3

    (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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    PGM3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    PGM3 Expression
    About this image


    PGM3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Fibroblasts (Uncategorized)
    PGM3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PGM3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.661665

    UniProtKB/Swiss-Prot: AGM1_HUMAN, O95394
    Tissue specificity: Found in many tissues except lung. Relatively high expression in pancreas, heart, liver, and
    placenta, and relatively low expression in brain, skeletal muscle and kidney

        Pathway & Disease-focused RT2 Profiler PCR Array including PGM3: 
              Glucose Metabolism in human mouse rat

    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PGM3
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PGM3

    (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

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PGM3 gene from Selected species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pgm31 , 5 phosphoglucomutase 31, 5 83.58(n)1
    87.64(a)1
      9 (46.58 cM)5
    1097851  NM_028352.41  NP_082628.31 
     865524765 
    chicken
    (Gallus gallus)
    Aves PGM31 phosphoglucomutase 3 73.81(n)
    74.31(a)
      421841  XM_419862.4  XP_419862.3 
    lizard
    (Anolis carolinensis)
    Reptilia PGM36
    phosphoglucomutase 3
    76(a)
    1 ↔ 1
    1(197743546-197767191)
    African clawed frog
    (Xenopus laevis)
    Amphibia pgm3-prov2 phosphoglucomutase 3 75.57(n)    BC056094.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pgm31 phosphoglucomutase 3 65.55(n)
    68.97(a)
      474321  NM_001007053.1  NP_001007054.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta nst1 nesthocker 54.83(n)
    55.02(a)
      39434  NM_140331.3  NP_648588.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F21D5.11 F21D5.1 50.06(n)
    43.87(a)
      177678  NM_069099.5  NP_501500.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PCM1(YEL058W)4
    PCM11
    Essential N-acetylglucosamine-phosphate mutase; converts GlcNAc-6-P to GlcNAc-1-P, which is a precursor for the biosynthesis of chitin and for the formation of N-glycosylated mannoproteins and glycosylphosphatidylinositol anchors less4
    PCM11
    52.09(n)1
    47.51(a)1
      5(43252-44925)4
    8566521, 4  NP_010856.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons DRT1011 DRT101 52.71(n)
    47.16(a)
      831926  NM_121812.2  NP_568359.2 
    rice
    (Oryza sativa)
    Liliopsida Os.59492 Oryza sativa (japonica cultivar-group) cDNA cloneJ023034C14, full insert sequence less 72.64(n)    AK069901.1 


    ENSEMBL Gene Tree for PGM3 (if available)
    TreeFam Gene Tree for PGM3 (if available)

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

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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for PGM3 (see all 402)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs624192581,2
    C,Funtested183892687(+) GTTAAA/C/TAAGCC 8 L F mis11EU 971
    rs1830670351,2
    --83878734(+) CATTAA/GTGAGA 4 -- ut31 int10--------
    rs115541891,2
    C--83878751(+) TTAGAG/TGTAAA 4 -- ut31 int1 ese31Minor allele frequency- T:0.00NA 2
    rs1411532011,2
    C--83878910(+) GTAAAC/GACTTG 4 -- ut31 int10--------
    rs1436542681,2
    C,F--83878970(+) TTGGGG/TCCTTT 7 T P mis1 ut312Minor allele frequency- T:0.00NA EU 5865
    rs1431087171,2
    C--83879224(+) ATAAAC/TGGAAA 4 -- int10--------
    rs737497251,2
    C,F--83879225(+) TAAACG/AGAAAA 4 -- int12Minor allele frequency- A:0.09WA 120
    rs1873698481,2
    --83879561(+) GACCCA/CTGTCA 4 -- int10--------
    rs1919461071,2
    C--83879632(+) AGTCCA/GGAATG 4 -- int10--------
    rs1384743391,2
    C--83879705(+) TTAAA-/AGAAG 
            
    AGAAA
    4 -- int10--------

    HapMap Linkage Disequilibrium report for PGM3 (83870869 - 83903655 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for PGM3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2664853CNV Deletion23128226

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PGM3
    DNA2.0 Custom Variant and Variant Library Synthesis for PGM3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 172100    OMIM disorders: --

    2 diseases for PGM3:    
    About MalaCards
    immunodeficiency 23    diabetic nephropathy


    Find genes that share disorders with PGM3           About GenesLikeMe

    Genetic Association Database (GAD): PGM3
    Human Genome Epidemiology (HuGE) Navigator: PGM3 (3 documents)

    Export disorders for PGM3 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 PGM3 gene, integrated from 10 sources (see all 40):
    (articles sorted by number of sources associating them with PGM3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of human phosphoglucomutase 3 (PGM3) as N- acetylglucosamine-phosphate mutase (AGM1). (PubMed id 12174217)1, 2, 3, 9 Pang H.... Kimura H. (Ann. Hum. Genet. 2002)
    2. Cloning and characterization of complementary DNA encoding human N- acetylglucosamine-phosphate mutase protein. (PubMed id 10721701)1, 2, 3, 9 Li C.... Banerjee D. (Gene 2000)
    3. Functional cloning and mutational analysis of the human cDNA for phosphoacetylglucosamine mutase: identification of the amino acid residues essential for the catalysis. (PubMed id 11004509)1, 2, 9 Mio T.... Yamada-Okabe H. (Biochim. Biophys. Acta 2000)
    4. Polymorphic analysis of the human phosphoglucomutase-3 gene based on mismatched PCR-RFLP technique. (PubMed id 20221814)1, 4, 9 Pang H....Ding M. (Biochem. Genet. 2010)
    5. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    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. (Genome Res. 2004)
    8. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    9. N-acetylglucosamine-phosphate mutase genotype and diabetic microvascular complications. (PubMed id 12752494)1, 9 Pang H....Yamagishi S.I. (Diabet. Med. 2003)
    10. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. (PubMed id 23824909)1 Chen Y....Ge F. (amp 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 5238 HGNC: 8907 AceView: PGM3 Ensembl:ENSG00000013375 euGenes: HUgn5238
    ECgene: PGM3 Kegg: 5238 H-InvDB: PGM3

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for PGM3 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for PGM3 gene:
    Search GeneIP for patents involving PGM3

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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