AlphaFold predicted structure
DPM1 · O60762
Mean pLDDT
88.6/ 100
Confident
260 residues
Confidence breakdown
- Very high(≥ 90)65%
- Confident(70–90)25%
- Low(50–70)3%
- Very low(< 50)7%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
DPM1
Chr 20q13.13dolichyl-phosphate mannosyltransferase subunit 1, catalytic
- Aliases:
- MPDS, CDGIE
- MANE:
- ENST00000371588.10
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalSevere microcephaly
BIALLELIC, autosomal or pseudoautosomalSkeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
congenital disorder of glycosylation type 1E
0.81DPM1-CDG
0.77congenital disorder of glycosylation type I
0.50neurodegenerative disease
0.50dengue disease
0.46hereditary disease
0.41congenital disorder of glycosylation
0.37SRD5A3-congenital disorder of glycosylation
0.37hepatocellular carcinoma
0.09prostate carcinoma
0.06
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Dolichol-phosphate mannosyltransferase subunit 1
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 subunit of the dolichol-phosphate mannose (DPM) synthase complex