NP_061982.3
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
chitobiosyldiphosphodolichol beta-mannosyltransferase
NCBI Official Synonym Full Names
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
NCBI Official Synonym Symbols
HMT1; MT-1; CDG1K; HMAT1; HMT-1; Mat-1; hMat-1 [Similar Products]
NCBI Protein Information
chitobiosyldiphosphodolichol beta-mannosyltransferase
UniProt Protein Name
Chitobiosyldiphosphodolichol beta-mannosyltransferase
UniProt Synonym Protein Names
Asparagine-linked glycosylation protein 1 homolog; Beta-1,4-mannosyltransferase; GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase; GDP-mannose-dolichol diphosphochitobiose mannosyltransferase; Mannosyltransferase-1; MT-1; hMat-1
UniProt Synonym Gene Names
UniProt Entry Name
ALG1_HUMAN
NCBI Summary for ALG1
The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]
UniProt Comments for ALG1
ALG1: Participates in the formation of the lipid-linked precursor oligosaccharide for N-glycosylation. Involved in assembling the dolichol-pyrophosphate-GlcNAc(2)-Man(5) intermediate on the cytoplasmic surface of the ER. Defects in ALG1 are the cause of congenital disorder of glycosylation type 1K (CDG1K). CDGs are a family of severe inherited diseases caused by a defect in protein N- glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of 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. Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 33 subfamily.
Protein type: Transferase; Endoplasmic reticulum; EC 2.4.1.142; Membrane protein, integral; Glycan Metabolism - N-glycan biosynthesis
Chromosomal Location of Human Ortholog: 16p13.3
Cellular Component: endoplasmic reticulum membrane; membrane; endoplasmic reticulum; integral to membrane
Molecular Function: mannosyltransferase activity; chitobiosyldiphosphodolichol beta-mannosyltransferase activity
Biological Process: cellular protein metabolic process; dolichol-linked oligosaccharide biosynthetic process; lipopolysaccharide biosynthetic process; protein amino acid glycosylation; protein amino acid N-linked glycosylation via asparagine; post-translational protein modification
Disease: Congenital Disorder Of Glycosylation, Type Ik
Research Articles on ALG1
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Products associated with anti-ALG1 antibody
Pathways associated with anti-ALG1 antibody
Diseases associated with anti-ALG1 antibody
Organs/Tissues associated with anti-ALG1 antibody
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