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Aliases for PGM3 Gene

Aliases for PGM3 Gene

  • Phosphoglucomutase 3 2 3 5
  • Acetylglucosamine Phosphomutase 2 3 4
  • EC 5.4.2.3 4 63
  • PGM 3 3 4
  • AGM1 3 4
  • PAGM 3 4
  • N-Acetylglucosamine-Phosphate Mutase 1 3
  • N-Acetylglucosamine-Phosphate Mutase 4
  • Phosphoglucomutase-3 4
  • EC 5.4.2 63
  • IMD23 3

External Ids for PGM3 Gene

Previous GeneCards Identifiers for PGM3 Gene

  • GC06U990094
  • GC06M083841
  • GC06M083874
  • GC06M083935
  • GC06M083876
  • GC06M081106

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 and hyper ige syndrome. Among its related pathways are Amino sugar and nucleotide sugar metabolism and Metabolism. GO annotations related to this gene include magnesium ion binding and phosphoglucomutase 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

Regulatory Elements for PGM3 Gene

Enhancers for PGM3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PGM3 on UCSC Golden Path with GeneCards custom track

Promoters for PGM3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PGM3 on UCSC Golden Path with GeneCards custom track

Genomic Location for PGM3 Gene

Chromosome:
6
Start:
83,151,972 bp from pter
End:
83,193,936 bp from pter
Size:
41,965 bases
Orientation:
Minus strand

Genomic View for PGM3 Gene

Genes around PGM3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PGM3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PGM3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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;
    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

  • Ubiquitination at Lys 8
  • Modification sites at PhosphoSitePlus

Domains & Families 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 :
  • Belongs to the phosphohexose mutase family.
Family:
  • Belongs to the phosphohexose mutase family.
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

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

Human Phenotype Ontology for PGM3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for PGM3 Gene

miRTarBase miRNAs that target PGM3

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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
cytosol 5
nucleus 3
cytoskeleton 2
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PGM3 Gene

Pathways & Interactions 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 IEA --
GO:0006041 glucosamine metabolic process NAS 11004509
GO:0006487 protein N-linked glycosylation IMP 24589341
GO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0006493 protein O-linked glycosylation IMP 24589341
genes like me logo Genes that share ontologies with PGM3: view

No data available for SIGNOR curated interactions for PGM3 Gene

Drugs & Compounds for PGM3 Gene

(4) Drugs for PGM3 Gene - From: ClinicalTrials and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Warfarin Approved Pharma 435
Glucose 1-phosphate Experimental Pharma 0
Pharmaceutical Solutions Pharma 7317
Magnesium Nutra 0

(4) Additional Compounds for PGM3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Ribose 5-phosphate
  • D-Ribose 5-phosphate
  • D-Ribose-5-P
  • D-Ribose-5-phosphate
  • D-Ribose-5-phosphorate
  • D-Ribose-5-phosphoric acid
3615-55-2
D-Ribulose 5-phosphate
  • alpha-D-Ribose 5-phosphate
  • D-Ribulose 5-phosphate
  • Erythro-Pentulose 5-phosphate
  • Ribulose 5-phosphate
  • Ribulose phosphate
4151-19-3
N-Acetyl-D-Glucosamine 6-Phosphate
  • N-Acetyl-D-Glucosamine 6-Phosphate
  • N-Acetyl-D-glucosamine-6-p
  • N-Acetyl-D-glucosamine-6-phosphate
  • N-Acetyl-glucosamine-6-p
  • N-Acetyl-glucosamine-6-phosphate
102029-88-9
N-Acetyl-glucosamine 1-phosphate
  • D-Glucosamine 1-phosphate
  • delta-Glucosamine 1-phosphate
  • N-Acetyl-alpha-D-glucosamine 1-phosphate
  • N-Acetyl-alpha-delta-glucosamine 1-phosphate
  • N-Acetyl-D-glucosamine 1-phosphate
901851-43-2
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

Protein differential expression in normal tissues from HIPED for PGM3 Gene

This gene is overexpressed in Oral epithelium (11.4), Bone marrow stromal cell (6.9), and Salivary gland (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with PGM3: view

Protein tissue co-expression partners for PGM3 Gene

- Elite partner

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia PGM3 35
  • 99.42 (n)
  • 99.3 (a)
PGM3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pgm3 35
  • 82.5 (n)
  • 85.71 (a)
oppossum
(Monodelphis domestica)
Mammalia PGM3 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PGM3 36
  • 78 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia pgm3 35
  • 71.59 (n)
  • 74.24 (a)
Str.10101 35
African clawed frog
(Xenopus laevis)
Amphibia pgm3-prov 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)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D00858g 35
  • 51.94 (n)
  • 47.79 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PCM1 35
  • 52.09 (n)
  • 47.51 (a)
PCM1 36
  • 43 (a)
OneToOne
PCM1 38
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
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8620 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 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
rs473267 - 83,170,448(+) AGCAT(C/T)GGTAG nc-transcript-variant, reference, missense
VAR_071359 Immunodeficiency 23 (IMD23)
VAR_071360 Immunodeficiency 23 (IMD23)
VAR_071361 Immunodeficiency 23 (IMD23)
VAR_071362 Immunodeficiency 23 (IMD23)

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

Variant ID Type Subtype PubMed ID
esv2664853 CNV Deletion 23128226

Variation tolerance for PGM3 Gene

Residual Variation Intolerance Score: 63.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.13; 84.62% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(5) MalaCards diseases for PGM3 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency 23
  • immunodeficiency with hyper ige and cognitive impairment
hyper ige syndrome
  • hyper-ige recurrent infection syndrome
pgm3-cdg
  • cid due to pgm3 deficiency
atopy
  • atopic hypersensitivity
desbuquois dysplasia
  • desbuquois syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PGM3 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for PGM3

Genetic Association Database (GAD)
PGM3
Human Genome Epidemiology (HuGE) Navigator
PGM3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PGM3
genes like me logo Genes that share disorders with PGM3: view

No data available for Genatlas for PGM3 Gene

Publications for PGM3 Gene

  1. 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 67
  2. Cloning and characterization of complementary DNA encoding human N- acetylglucosamine-phosphate mutase protein. (PMID: 10721701) Li C. … Banerjee D. (Gene 2000) 2 3 23
  3. 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
  4. N-acetylglucosamine-phosphate mutase genotype and diabetic microvascular complications. (PMID: 12752494) Pang H. … Yamagishi S.I. (Diabet. Med. 2003) 3 23
  5. 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 23

Products for PGM3 Gene

Sources for PGM3 Gene

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