DPM1: Dolichyl-Phosphate Mannosyltransferase Subunit 1
Key enzyme in N-glycosylation and congenital disorders of glycosylation
Gene Information Card
| Symbol | DPM1 |
|---|---|
| Full Name | Dolichyl-Phosphate Mannosyltransferase Subunit 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.13 |
| NCBI Gene ID | 8813 ncbi.nlm.nih.gov/gene/8813 |
| Ensembl ID | ENSG00000101442 |
| UniProt ID | O60762 |
| OMIM ID | 603503 |
| HGNC ID | 3005 |
| Aliases | MPDS, DPM1A, DPM1B |
Description
DPM1 encodes the catalytic subunit of dolichyl-phosphate mannosyltransferase, an enzyme essential for the synthesis of dolichol-phosphate-mannose (Dol-P-Man). Dol-P-Man serves as a mannosyl donor in N-glycosylation, GPI anchor biosynthesis, and O-mannosylation. Mutations in DPM1 cause congenital disorder of glycosylation type Ie (CDG-IE), characterized by severe neurological and developmental defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type Ie (CDG-IE) | Loss-of-function mutations in DPM1 impair Dol-P-Man synthesis, leading to underglycosylation of proteins and GPI anchors. | ClinVar, OMIM |
| DPM1-CDG | Same as CDG-IE; autosomal recessive inheritance with multisystem involvement. | OMIM #608799 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Brain | 8.7 | Medium |
| Heart | 6.5 | Low |
| Kidney | 10.1 | Medium |
| Testis | 15.2 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.5 | High expression |
| HeLa | 11.2 | Medium expression |
| K562 | 9.8 | Medium expression |
| HepG2 | 13.0 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.737G>A (p.Arg246His) | Missense | Rare | Reduced enzyme activity; associated with CDG-IE |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of protein expression; severe phenotype |
| c.742C>T (p.Arg248Trp) | Missense | Rare | Impaired Dol-P-Man synthesis |
Mutation functional classification
Loss of Function (LOF)
Most DPM1 mutations are loss-of-function, reducing or abolishing Dol-P-Man synthase activity, leading to underglycosylation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects described; disease is recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• KEGG: N-Glycan biosynthesis (hsa00510)
• KEGG: GPI-anchor biosynthesis (hsa00563)
• Reactome: Dolichol-phosphate-mannose biosynthesis (R-HSA-162699)
Protein Summary
DPM1 is a 260-amino acid transmembrane protein localized to the endoplasmic reticulum membrane. It forms a complex with DPM2 and DPM3 to catalyze the transfer of mannose from GDP-mannose to dolichol phosphate, producing Dol-P-Man. This product is critical for N-linked glycosylation, GPI anchor assembly, and O-mannosylation. Defects in DPM1 lead to underglycosylation of multiple proteins, causing multisystemic disease.
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