DPM1

Chr 20

dolichyl-phosphate mannosyltransferase subunit 1, catalytic

Also known as: CDGIE, MPDS

NCBI Gene: 8813 ENSG00000000419 UniProt: O60762

DPM1 encodes the catalytic subunit of dolichol-phosphate mannose synthase, which transfers mannose from GDP-mannose to dolichol monophosphate to produce the mannosyl donor required for N-glycosylation, GPI anchor synthesis, and O-mannosylation of proteins. Mutations cause congenital disorder of glycosylation type Ie, which is inherited in an autosomal recessive pattern. The gene shows low constraint against loss-of-function variants (pLI 0.0002, LOEUF 0.87), consistent with recessive inheritance where heterozygous carriers are typically unaffected.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCongenital disorder of glycosylation 1E

Clinical highlights

Gene-disease validity (ClinGen)

congenital disorder of glycosylation type 1E · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.87

LOEUF

LOF

Mechanism· G2P

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GeneReview available — DPM1