MPDU1 Gene Summary [Human]
This gene encodes an endoplasmic reticulum membrane protein that is required for utilization of the mannose donor mannose-P-dolichol in the synthesis of lipid-linked oligosaccharides and glycosylphosphatidylinositols. Mutations in this gene result in congenital disorder of glycosylation type If. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
Details
| Type | Protein Coding |
| Official Symbol | MPDU1 |
| Official Name | mannose-P-dolichol utilization defect 1 [Source:HGNC Symbol;Acc:HGNC:7207] |
| Ensembl ID | ENSG00000129255 |
| Bio databases IDs | |
| Aliases | mannose-P-dolichol utilization defect 1 |
| Synonyms | CDGIF, HBEBP2BPA, LEC35, mannose-P-dolichol utilization defect 1, My008, PP3958, PQLC5, SL15, SLC66A5, Supl15h |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MPDU1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Sugar efflux transporter for intercellular exchange
- protein binding
- PQ loop repeat
- Lysosomal Cystine Transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cellular membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MPDU1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- oligosaccharide biosynthetic process
- protein folding
- dolichol-linked oligosaccharide biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane
Molecular Function
What the gene product does at the molecular level
- protein binding