Mannosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-linked oligosaccharides begins on the cytosolic side of the endoplasmic reticulum membrane and finishes in its lumen. The sequential addition of sugars to dolichol pyrophosphate produces dolichol-linked oligosaccharides containing fourteen sugars, including two GlcNAcs, nine mannoses and three glucoses. Once assembled, the oligosaccharide is transferred from the lipid to nascent proteins by oligosaccharyltransferases. Catalyzes, on the cytoplasmic face of the endoplasmic reticulum, the addition of the first mannose residues to the dolichol-linked oligosaccharide chain, to produce Man1GlcNAc(2)-PP-dolichol core oligosaccharide. Man1GlcNAc(2)-PP-dolichol is a substrate for ALG2, the following enzyme in the biosynthetic pathway.
Congenital disorder of glycosylation 1K
CDG1K
A form of congenital disorder of glycosylation, 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Protein modification; protein glycosylation.
Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 33 subfamily.
HMAT1, HMT1, PSEC0061, UNQ861/PRO1870, ALG1, Chitobiosyldiphosphodolichol beta-mannosyltransferase, Asparagine-linked glycosylation protein 1 homolog, GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase, GDP-mannose-dolichol diphosphochitobiose mannosyltransferase, Mannosyltransferase-1, MT-1, hMat-1
Proteins
52518Da
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