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Aliases for PGM3 Gene

Aliases for PGM3 Gene

  • Phosphoglucomutase 3 2 3
  • Acetylglucosamine Phosphomutase 2 3 4
  • AGM1 3 4 6
  • EC 5.4.2.3 4 63
  • PGM 3 3 4
  • PAGM 3 4
  • N-Acetylglucosamine-Phosphate Mutase 1 3
  • N-Acetylglucosamine-Phosphate Mutase 4
  • Phosphoacetylglucosamine Mutase 3
  • Phosphoglucomutase-3 4
  • EC 5.4.2 63
  • IMD23 3

External Ids for PGM3 Gene

Summaries for PGM3 Gene

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. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include magnesium ion binding and phosphoacetylglucosamine mutase activity.

UniProtKB/Swiss-Prot for PGM3 Gene

  • Catalyzes the conversion of GlcNAc-6-P into GlcNAc-1-P during the synthesis of uridine diphosphate/UDP-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways including protein N- and O-glycosylation.

Gene Wiki entry for PGM3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PGM3 Gene

Genomics for PGM3 Gene

Genomic Location for PGM3 Gene

Start:
83,161,150 bp from pter
End:
83,193,936 bp from pter
Size:
32,787 bases
Orientation:
Minus strand

Genomic View for PGM3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PGM3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PGM3 Gene

Regulatory Elements for PGM3 Gene

Proteins for PGM3 Gene

  • Protein details for PGM3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95394-AGM1_HUMAN
    Recommended name:
    Phosphoacetylglucosamine mutase
    Protein Accession:
    O95394
    Secondary Accessions:
    • B2RB65
    • B4DX94
    • D6RF12
    • E1P547
    • E9PF86
    • Q5JWR4
    • Q96J46
    • Q9H8G5
    • Q9NS94
    • Q9NTT6
    • Q9UFV5
    • Q9UIY2

    Protein attributes for PGM3 Gene

    Size:
    542 amino acids
    Molecular mass:
    59852 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Note=Binds 1 Mg(2+) ion per subunit.;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB14652.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for PGM3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PGM3 Gene

Proteomics data for PGM3 Gene at MOPED

Selected DME Specific Peptides for PGM3 Gene

Post-translational modifications for PGM3 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys8

Domains for PGM3 Gene

Suggested Antigen Peptide Sequences for PGM3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95394

UniProtKB/Swiss-Prot:

AGM1_HUMAN
Family:
  • Belongs to the phosphohexose mutase family.:
    • O95394
genes like me logo Genes that share domains with PGM3: view

No data available for Gene Families for PGM3 Gene

Function for PGM3 Gene

Molecular function for PGM3 Gene

GENATLAS Biochemistry: phosphoglucomutase 3
UniProtKB/Swiss-Prot CatalyticActivity: N-acetyl-alpha-D-glucosamine 1-phosphate = N-acetyl-D-glucosamine 6-phosphate.
UniProtKB/Swiss-Prot Function: Catalyzes the conversion of GlcNAc-6-P into GlcNAc-1-P during the synthesis of uridine diphosphate/UDP-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways including protein N- and O-glycosylation.

Enzyme Numbers (IUBMB) for PGM3 Gene

Gene Ontology (GO) - Molecular Function for PGM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0004610 phosphoacetylglucosamine mutase activity IMP 24589341
GO:0004614 phosphoglucomutase activity IEA --
GO:0016868 intramolecular transferase activity, phosphotransferases --
genes like me logo Genes that share ontologies with PGM3: view
genes like me logo Genes that share phenotypes with PGM3: view

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for PGM3 Gene

Localization for PGM3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PGM3 Gene COMPARTMENTS Subcellular localization image for PGM3 gene
Compartment Confidence
cytoskeleton 3
cytosol 3
nucleus 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PGM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PGM3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PGM3 Gene

Pathways for PGM3 Gene

genes like me logo Genes that share pathways with PGM3: view

UniProtKB/Swiss-Prot O95394-AGM1_HUMAN

  • 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.

Gene Ontology (GO) - Biological Process for PGM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process --
GO:0006041 glucosamine metabolic process NAS 11004509
GO:0006048 UDP-N-acetylglucosamine biosynthetic process TAS --
GO:0006487 protein N-linked glycosylation IMP 24589341
GO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
genes like me logo Genes that share ontologies with PGM3: view

Compounds for PGM3 Gene

(4) HMDB Compounds for PGM3 Gene

Compound Synonyms Cas Number PubMed IDs
D-Ribose 5-phosphate
  • D-Ribose 5-phosphate
3615-55-2
D-Ribulose 5-phosphate
  • D-Ribulose 5-phosphate
4151-19-3
Glucose 1-phosphate
  • Cori ester
59-56-3
Magnesium
  • Magnesium
7439-95-4
genes like me logo Genes that share compounds with PGM3: view

Transcripts for PGM3 Gene

Unigene Clusters for PGM3 Gene

Phosphoglucomutase 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PGM3 Gene

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: -

Relevant External Links for PGM3 Gene

GeneLoc Exon Structure for
PGM3
ECgene alternative splicing isoforms for
PGM3

Expression for PGM3 Gene

mRNA expression in normal human tissues for PGM3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PGM3 Gene

SOURCE GeneReport for Unigene cluster for PGM3 Gene Hs.661665

mRNA Expression by UniProt/SwissProt for PGM3 Gene

O95394-AGM1_HUMAN
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.
genes like me logo Genes that share expressions with PGM3: view

No data available for mRNA differential expression in normal tissues for PGM3 Gene

Orthologs for PGM3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PGM3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PGM3 35
  • 99.42 (n)
  • 99.3 (a)
PGM3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PGM3 35
  • 87.7 (n)
  • 88.38 (a)
PGM3 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PGM3 35
  • 91.14 (n)
  • 92.44 (a)
PGM3 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pgm3 35
  • 83.58 (n)
  • 87.64 (a)
Pgm3 16
Pgm3 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PGM3 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PGM3 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pgm3 35
  • 82.5 (n)
  • 85.71 (a)
chicken
(Gallus gallus)
Aves PGM3 35
  • 73.81 (n)
  • 74.31 (a)
PGM3 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PGM3 36
  • 76 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia pgm3-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia pgm3 35
  • 71.59 (n)
  • 74.24 (a)
Str.10101 35
zebrafish
(Danio rerio)
Actinopterygii pgm3 35
  • 65.55 (n)
  • 68.97 (a)
pgm3 36
  • 68 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007215 35
  • 54.17 (n)
  • 52.43 (a)
fruit fly
(Drosophila melanogaster)
Insecta nst 35
  • 54.83 (n)
  • 55.02 (a)
nst 36
  • 52 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F21D5.1 35
  • 50.06 (n)
  • 43.87 (a)
F21D5.1 36
  • 41 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR015W 35
  • 51.34 (n)
  • 49.71 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PCM1 35
  • 52.09 (n)
  • 47.51 (a)
PCM1 36
  • 43 (a)
OneToOne
PCM1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D00858g 35
  • 51.94 (n)
  • 47.79 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons DRT101 35
  • 52.71 (n)
  • 47.16 (a)
rice
(Oryza sativa)
Liliopsida Os.5949 35
Os07g0195400 35
  • 52.41 (n)
  • 46.87 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.28381 35
bread mold
(Neurospora crassa)
Ascomycetes NCU07458 35
  • 50.2 (n)
  • 48.82 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1296.01c 35
  • 52.37 (n)
  • 45.77 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8620 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 50 (a)
OneToOne
Species with no ortholog for PGM3:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for PGM3 Gene

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

Paralogs for PGM3 Gene

No data available for Paralogs for PGM3 Gene

Variants for PGM3 Gene

Sequence variations from dbSNP and Humsavar for PGM3 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs474075 -- 83,187,846(-) GAAAC(A/G)TTTTT intron-variant
rs477061 -- 83,186,914(+) ATCTG(A/T)ATTTT intron-variant
rs480537 -- 83,180,686(-) CTCTA(C/T)GCTCT intron-variant
rs491491 -- 83,173,886(-) ggtgg(C/T)gggca intron-variant
rs521406 -- 83,190,125(-) TGGTG(A/G)GAATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PGM3 Gene

Variant ID Type Subtype PubMed ID
esv2664853 CNV Deletion 23128226

Relevant External Links for PGM3 Gene

HapMap Linkage Disequilibrium report
PGM3
Human Gene Mutation Database (HGMD)
PGM3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PGM3 Gene

Disorders for PGM3 Gene

UniProtKB/Swiss-Prot

AGM1_HUMAN
  • Immunodeficiency 23 (IMD23) [MIM:615816]: A primary immunodeficiency syndrome characterized by recurrent respiratory and skin infections beginning in early childhood, severe atopy, increased serum IgE, and developmental delay or cognitive impairment of varying severity. {ECO:0000269 PubMed:24589341, ECO:0000269 PubMed:24698316, ECO:0000269 PubMed:24931394}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) MalaCards Diseases for PGM3 Gene

Search for PGM3 Gene in MalaCards »

Relevant External Links for PGM3

Genetic Association Database (GAD)
PGM3
Human Genome Epidemiology (HuGE) Navigator
PGM3
genes like me logo Genes that share disorders with PGM3: view

Publications for PGM3 Gene

  1. Cloning and characterization of complementary DNA encoding human N- acetylglucosamine-phosphate mutase protein. (PMID: 10721701) Li C. … Banerjee D. (Gene 2000) 2 3 4 23
  2. Identification of human phosphoglucomutase 3 (PGM3) as N- acetylglucosamine-phosphate mutase (AGM1). (PMID: 12174217) Pang H. … Kimura H. (Ann. Hum. Genet. 2002) 2 3 4 23
  3. Functional cloning and mutational analysis of the human cDNA for phosphoacetylglucosamine mutase: identification of the amino acid residues essential for the catalysis. (PMID: 11004509) Mio T. … Yamada-Okabe H. (Biochim. Biophys. Acta 2000) 3 4 23
  4. Polymorphic analysis of the human phosphoglucomutase-3 gene based on mismatched PCR-RFLP technique. (PMID: 20221814) Pang H. … Ding M. (Biochem. Genet. 2010) 3 23 48
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4

Products for PGM3 Gene

Sources for PGM3 Gene

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