MGP Database

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MGP002265

UniProt Annotations

Entry Information
Gene Namephosphoglucomutase 1
Protein EntryPGM1_HUMAN
UniProt IDP36871
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=P36871-1; Sequence=Displayed; Name=2; IsoId=P36871-2; Sequence=VSP_004686; Note=Contains a N-acetylmethionine at position 1.; Name=3; IsoId=P36871-3; Sequence=VSP_045204; Note=No experimental confirmation available.;
Catalytic ActivityAlpha-D-glucose 1-phosphate = alpha-D-glucose 6-phosphate.
CofactorName=Mg(2+); Xref=ChEBI:CHEBI:18420; Note=Binds 1 Mg(2+) ion per subunit.;
DiseaseCongenital disorder of glycosylation 1T (CDG1T) [MIM:614921]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N- glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269|PubMed:19625727, ECO:0000269|PubMed:22492991, ECO:0000269|PubMed:24499211}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionThis enzyme participates in both the breakdown and synthesis of glucose.
PolymorphismMany polymorphic variants of PGM1 exist. 8 different alleles are known: PGM1*1+, PGM1*1-, PGM1*2+, PGM1*2-, PGM1*3+, PGM1*3-, PGM1*7+ and PGM1*7-. The sequence of PGM1*1+ is shown here.
PtmPhosphorylation at Thr-467 by PAK1 significantly enhances enzymatic activity. {ECO:0000269|PubMed:15378030, ECO:0000269|PubMed:19690332, ECO:0000269|PubMed:20068231, ECO:0000269|PubMed:21406692}.
Sequence CautionSequence=AAH90856.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityBelongs to the phosphohexose mutase family. {ECO:0000305}.
Subcellular LocationIsoform 1: Cytoplasm.
SubunitMonomer.
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