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MGP001955

UniProt Annotations

Entry Information
Gene Namemannose phosphate isomerase
Protein Entry
UniProt IDQ8NHZ6
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P34949-1; Sequence=Displayed; Name=2; IsoId=P34949-2; Sequence=VSP_013357; Note=No experimental confirmation available.;
Catalytic ActivityD-mannose 6-phosphate = D-fructose 6- phosphate.
CofactorName=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence={ECO:0000250}; Note=Binds 1 zinc ion per subunit. {ECO:0000250};
DiseaseCongenital disorder of glycosylation 1B (CDG1B) [MIM:602579]: 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. Congenital disorder of glycosylation type 1B is clinically characterized by protein- losing enteropathy. {ECO:0000269|PubMed:10980531, ECO:0000269|PubMed:11134235, ECO:0000269|PubMed:11350186, ECO:0000269|PubMed:12357336, ECO:0000269|PubMed:12414827, ECO:0000269|PubMed:9525984, ECO:0000269|PubMed:9585601}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionInvolved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.
PathwayNucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; alpha-D-mannose 1-phosphate from D-fructose 6- phosphate: step 1/2.
SimilarityBelongs to the mannose-6-phosphate isomerase type 1 family. {ECO:0000305}.
Subcellular LocationCytoplasm {ECO:0000305}.
Tissue SpecificityExpressed in all tissues, but more abundant in heart, brain and skeletal muscle.
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