RBCC Red Blood Cell Collection

DPM1_HUMAN

Source: PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: DPM1
Protein names and data: DPM1_HUMAN , Dolichol-phosphate mannosyltransferase; 2.4.1.83 , Dolichol-phosphate mannose synthase; DPM synthase; Dolichyl-phosphate beta-D-mannosyltransferase; Mannose-P-dolichol synthase; MPD synthase Lenght: 260 a.a.
Mass: 29634 Da
fasta formatted sequence
Function: 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.
Catalytic activity: GDP-mannose + dolichyl phosphate = GDP + dolichyl D-mannosyl phosphate.
Pathway: Protein modification; protein glycosylation.
Disease: ( OMIM: 603503 608799 ) Congenital disorder of glycosylation 1E (CDG1E) [MIM:608799]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Endoplasmic reticulum.

Genetic variants

92 - 92 R -> G (in CDG1E). VAR_012341
248 - 248 S -> P (in CDG1E). VAR_019841

Database cross-references

UniProt: O60762
Ensembl: ENST00000371588
MIM: 603503
MIM: 608799
neXtProt: NX_O60762
Antibodypedia: O60762 (may not find the protein thus also not any antibody)
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