MGP Database

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MGP002266

UniProt Annotations

Entry Information
Gene Namephosphoglucomutase 3
Protein Entry
UniProt ID
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=O95394-1; Sequence=Displayed; Name=2; IsoId=O95394-3; Sequence=VSP_047320; Note=Gene prediction based on EST data.; Name=3; IsoId=O95394-4; Sequence=VSP_047319; Note=No experimental confirmation available.;
Catalytic ActivityN-acetyl-alpha-D-glucosamine 1-phosphate = N- acetyl-D-glucosamine 6-phosphate. {ECO:0000269|PubMed:24589341, ECO:0000269|PubMed:24698316, ECO:0000269|PubMed:24931394}.
CofactorName=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence={ECO:0000250|UniProtKB:Q9P4V2}; Note=Binds 1 Mg(2+) ion per subunit. {ECO:0000250|UniProtKB:Q9P4V2};
DiseaseImmunodeficiency 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.
FunctionCatalyzes 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. {ECO:0000303|PubMed:24589341, ECO:0000303|PubMed:24698316, ECO:0000303|PubMed:24931394}.
PathwayNucleotide-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. {ECO:0000303|PubMed:24589341, ECO:0000303|PubMed:24698316, ECO:0000303|PubMed:24931394}.
Sequence CautionSequence=BAB14652.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityBelongs to the phosphohexose mutase family. {ECO:0000305}.
Tissue SpecificityFound in many tissues except lung. Relatively high expression in pancreas, heart, liver, and placenta, and relatively low expression in brain, skeletal muscle and kidney. {ECO:0000269|PubMed:10721701}.
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