DPM1 Gene Summary [Human]
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]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | DPM1 |
| Official Name | dolichyl-phosphate mannosyltransferase subunit 1, catalytic [Source:HGNC Symbol;Acc:HGNC:3005] |
| Ensembl ID | ENSG00000000419 |
| Bio databases IDs | |
| Aliases | dolichyl-phosphate mannosyltransferase subunit 1, catalytic, DPM synthase complex, catalytic subunit |
| Synonyms | CDGIE, dolichyl-phosphate mannosyltransferase subunit 1, catalytic, MPDS, MPD synthase |
| 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 DPM1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Glycosyl transferase family 2
- dolichyl-phosphate beta-D-mannosyltransferase
- binding protein
- metal ion binding
- enzyme
- protein binding
- Glycosyltransferase like family 2
- glycosyltransferase family A
- mannose binding
- dolichyl-phosphate-mannose-protein mannosyltransferase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- prostate cancer
- congenital disorder of glycosylation type 1e
- colon cancer
- prostatic carcinoma
- hereditary disorder
- infection by HIV-1
- productive infection by HIV-1
regulates
- dolichol 20
- asparagine
- GDP-D-mannose
role in cell
- growth
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
- pH resistant lipid raft fraction
- cellular membrane
- Nucleus
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DPM1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- GPI anchor biosynthetic process
- GDP-mannose metabolic process
- protein N-linked glycosylation via asparagine
- protein mannosylation
- dolichol metabolic process
- protein O-linked mannosylation
- dolichol-linked oligosaccharide biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- nucleus
- membrane
- dolichol-phosphate-mannose synthase complex
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- mannose binding
- protein binding
- metal ion binding
- alcohol binding
- dolichyl-phosphate beta-D-mannosyltransferase activity
- dolichyl-phosphate-mannose-protein mannosyltransferase activity