MPDU1
Mannose-P-Dolichol Utilization Defect 1
Gene Information Card
| Symbol | MPDU1 |
|---|---|
| Full Name | Mannose-P-Dolichol Utilization Defect 1 |
| Gene Type | protein coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 9526 ncbi.nlm.nih.gov/gene/9526 |
| Ensembl ID | ENSG00000108771 |
| UniProt ID | O75352 |
| OMIM ID | 604041 |
| HGNC ID | 7207 |
| Aliases | PIG-L, SL15, Lec35, MPDU1A, MPDU1B |
Description
The MPDU1 gene encodes a transmembrane protein involved in the utilization of mannose-phosphate-dolichol for N-glycosylation. Mutations in this gene cause congenital disorder of glycosylation type If (CDG-If), characterized by multisystemic abnormalities including developmental delay, hypotonia, and seizures.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type If (CDG-If) | Defective mannose-P-dolichol utilization leads to underglycosylation of proteins. | OMIM #609180 |
| Congenital disorder of glycosylation type I (general) | Impaired N-glycosylation pathway due to MPDU1 deficiency. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 8.2 | Low |
| Brain | 6.5 | Low |
| Heart | 5.1 | Low |
| Kidney | 4.8 | Low |
| Lung | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 7.1 | Moderate expression |
| HeLa | 5.3 | Low expression |
| K562 | 4.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Loss of start codon, likely loss of function |
| c.104G>A (p.Arg35Gln) | missense | Rare | Impaired protein function |
| c.284T>C (p.Leu95Pro) | missense | Rare | Reduced dolichol utilization |
Mutation functional classification
Loss of Function (LOF)
Most MPDU1 mutations result in loss of function, impairing N-glycosylation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • protein glycosylation (GO:0006486) | • oligosaccharide-lipid intermediate assembly (GO:0006490) |
| • integral component of membrane (GO:0016021) |
Pathways
• N-glycan biosynthesis (KEGG: hsa00510)
• Metabolism of carbohydrates (Reactome: R-HSA-71387)
Protein Summary
MPDU1 is a 247-amino acid transmembrane protein localized to the endoplasmic reticulum. It facilitates the flipping of mannose-P-dolichol across the ER membrane, a critical step in the assembly of lipid-linked oligosaccharides for N-glycosylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MPDU1 Knockout HEK293 Cell Line | EDJ-KQ6631 | Human | 9526 | Details Get a Quote |
| MPDU1 Knockout A-549 Cell Line | EDJ-KQ30881 | Human | 9526 | Details Get a Quote |
| MPDU1 Knockout HCT 116 Cell Line | EDJ-KQ30882 | Human | 9526 | Details Get a Quote |
| MPDU1 Knockout HeLa Cell Line | EDJ-KQ30883 | Human | 9526 | Details Get a Quote |
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