DPM1 Antibody – Goat Polyclonal

Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. Human DPM1 lacks a carboxy-terminal transmembrane domain and signal sequence and is regulated by DPM2. [provided by RefSeq, Jul 2008]

DPM1: Transfers mannose from GDP-mannose to dolichol monophosphate to form dolichol phosphate mannose (Dol-P-Man) which is the mannosyl donor in pathways leading to N-glycosylation, glycosyl phosphatidylinositol membrane anchoring, and O- mannosylation of proteins. Defects in DPM1 are the cause of congenital disorder of glycosylation type 1E (CDG1E). CDGs are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. They are characterized by under-glycosylated serum glycoproteins. CDG1E is an autosomal recessive disorder, characterized by severe developmental delay, hypotnia, seizures, and dysmorphic features. Belongs to the glycosyltransferase 2 family.

Protein type: EC 2.4.1.83; Glycan Metabolism - N-glycan biosynthesis; Transferase

Chromosomal Location of Human Ortholog: 20q13.13

Cellular Component: endoplasmic reticulum membrane; membrane; endoplasmic reticulum; nucleus

Molecular Function: mannose binding; protein binding; alcohol binding; dolichyl-phosphate-mannose-protein mannosyltransferase activity; dolichyl-phosphate beta-D-mannosyltransferase activity

Biological Process: cellular protein metabolic process; protein amino acid O-linked mannosylation; dolichol-linked oligosaccharide biosynthetic process; protein amino acid mannosylation; GDP-mannose metabolic process; GPI anchor biosynthetic process; C-terminal protein lipidation; protein amino acid N-linked glycosylation via asparagine; dolichol metabolic process; post-translational protein modification

Disease: Congenital Disorder Of Glycosylation, Type Ie