DPM1 Chromosome 20
Dolichyl-phosphate mannosyltransferase subunit 1, catalytic
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What This Gene Does
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]
Gene Info
Gene Group
"Glycosyltransferase family 2|Dolichyl-phosphate mannosyltransferase subunits"
Locus Type
gene with protein product
Location
20q13.13
Ensembl
ENSG00000000419
Associated Conditions (4)
Congenital disorder of glycosylation type 1E
Inborn genetic diseases
DPM1-related disorder
Malignant tumor of urinary bladder
Key Variants
RS117175017
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E
Health Risk
RS1197456861
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E
Health Risk
RS1225648834
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E
Health Risk
RS139624629
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E
Health Risk
RS1478040715
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation type 1E, Inborn genetic diseases, Congenital disorder of glycosylation type 1E
Health Risk
RS16995639
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E
Health Risk
RS201392536
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E
Health Risk
RS370598866
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E
Health Risk
RS754109868
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E
Health Risk
RS758553918
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E
Health Risk
RS769964944
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation type 1E, DPM1-related disorder, Congenital disorder of glycosylation type 1E
Health Risk
RS775797102
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E
Health Risk
All Variants (29)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117175017 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E |
| RS1197456861 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E |
| RS1225648834 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E |
| RS139624629 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E |
| RS1478040715 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation type 1E, Inborn genetic diseases, Congenital disorder of glycosylation type 1E |
| RS16995639 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E |
| RS201392536 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E |
| RS370598866 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E |
| RS754109868 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E |
| RS758553918 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E |
| RS769964944 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation type 1E, DPM1-related disorder, Congenital disorder of glycosylation type 1E |
| RS775797102 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E |
| RS779869066 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E |
| RS780244460 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation type 1E, DPM1-related disorder, Congenital disorder of glycosylation type 1E |
| RS121908583 | Health Risk | Likely pathogenic | Congenital disorder of glycosylation type 1E, DPM1-related disorder, Congenital disorder of glycosylation type 1E |
| RS2123115725 | Health Risk | Likely pathogenic | Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E |
| RS2515710157 | Health Risk | Likely pathogenic | Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E |
| RS587777114 | Health Risk | Likely pathogenic | Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E |
| RS1272097668 | Health Risk | Pathogenic | Congenital disorder of glycosylation type 1E, Inborn genetic diseases, Congenital disorder of glycosylation type 1E |
| RS1324743951 | Health Risk | Pathogenic | Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E |
| RS1350257432 | Health Risk | Pathogenic | Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E |
| RS1568757730 | Health Risk | Pathogenic | Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E |
| RS2515710056 | Health Risk | Pathogenic | Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E |
| RS587777115 | Health Risk | Pathogenic | Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E |
| RS753780084 | Health Risk | Pathogenic | Congenital disorder of glycosylation type 1E, Malignant tumor of urinary bladder, Congenital disorder of glycosylation type 1E |
| RS759278634 | Health Risk | Pathogenic | Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E |
| RS777816615 | Health Risk | Pathogenic | Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E |
| RS781115721 | Health Risk | Pathogenic | Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E |
| RS587777116 | Health Risk | Pathogenic/Likely pathogenic | Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E |