DPM3 Gene - Dolichyl-Phosphate Mannosyltransferase Subunit 3
Essential component of the dolichol-phosphate mannose synthase complex involved in glycosylation
Gene Information Card
| Symbol | DPM3 |
|---|---|
| Full Name | dolichyl-phosphate mannosyltransferase subunit 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q22 |
| NCBI Gene ID | 54344 ncbi.nlm.nih.gov/gene/54344 |
| Ensembl ID | ENSG00000179085 |
| UniProt ID | Q9Y2E6 |
| OMIM ID | 605951 |
| HGNC ID | 3007 |
| Aliases | DPM3, DPM3B, MDDGA14, MDDGB14, MDDGC14 |
Description
The DPM3 gene encodes the dolichyl-phosphate mannosyltransferase subunit 3, a small transmembrane protein that anchors the dolichol-phosphate mannose (DPM) synthase complex to the endoplasmic reticulum membrane. This complex catalyzes the synthesis of dolichol-phosphate mannose, a key sugar donor required for N-glycosylation, O-mannosylation, and GPI anchor biosynthesis. Mutations in DPM3 cause congenital disorder of glycosylation type Ie (DPM3-CDG), characterized by neurological impairment and developmental delay.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type Ie (DPM3-CDG) | Loss-of-function mutations in DPM3 impair dolichol-phosphate mannose synthesis, leading to underglycosylation of proteins. | OMIM #612937; ClinVar; PMID: 19234556 |
| Muscular dystrophy-dystroglycanopathy (limb-girdle) type C14 | Defective O-mannosylation of alpha-dystroglycan due to DPM3 deficiency. | OMIM #616051; PMID: 23929950 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Low |
| Heart | 6.5 | Low |
| Liver | 5.1 | Low |
| Kidney | 7.3 | Low |
| Skeletal muscle | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.1 | Embryonic kidney cells |
| HeLa | 7.4 | Cervical cancer cells |
| HepG2 | 6.2 | Hepatocellular carcinoma cells |
| K562 | 5.9 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.68A>G (p.Asp23Gly) | Missense | Rare | Reduced DPM synthase activity; associated with DPM3-CDG |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of translation initiation; severe DPM3-CDG |
| c.95G>A (p.Arg32Gln) | Missense | Rare | Impaired complex assembly; mild phenotype |
Mutation functional classification
Loss of Function (LOF)
Most DPM3 mutations are loss-of-function, reducing dolichol-phosphate mannose synthesis and causing glycosylation defects.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582) | • protein glycosylation (GO:0006486) |
| • oligosaccharide-lipid intermediate assembly (GO:0006490) | • integral component of membrane (GO:0016021) |
| • endoplasmic reticulum (GO:0005783) |
Pathways
• Dolichol-phosphate mannose biosynthesis (Reactome: R-HSA-446193)
• N-glycosylation (Reactome: R-HSA-446203)
• O-mannosylation (Reactome: R-HSA-5173105)
Protein Summary
DPM3 is a 92-amino acid transmembrane protein that serves as the regulatory and anchoring subunit of the dolichol-phosphate mannose synthase complex. It stabilizes the catalytic subunit DPM1 and facilitates its interaction with DPM2. The complex is essential for the synthesis of dolichol-phosphate mannose, a mannosyl donor required for N-glycosylation, O-mannosylation, and GPI anchor biosynthesis. Defects in DPM3 lead to congenital disorders of glycosylation.
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