DPM1 Antibody – Rabbit 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. Mutations in this gene are associated with congenital disorder of glycosylation type Ie. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]

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

Chromosomal Location of Human Ortholog: 20q13.13

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

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

Biological Process: dolichol metabolic process; GDP-mannose metabolic process; GPI anchor biosynthetic process; protein amino acid mannosylation; protein amino acid N-linked glycosylation; protein amino acid N-linked glycosylation via asparagine; protein amino acid O-linked mannosylation

Disease: Congenital Disorder Of Glycosylation, Type Ie