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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Dolichol-phosphate mannosyltransferase subunit 1
Summary
- UniProt ID
- O60762
- Gene Symbol
-
- DPM1
- Organism
- Homo sapiens (human)
External Links
- GlyGen
- O60762
- PubChem
- O60762
- The Human Metabolome Database
- HMDBP00384
- The O-GlcNAc Database
- O60762
- RaftProt
- O60762
Annotation
- Keyword
-
- Acetylation
- Congenital disorder of glycosylation
- Congenital muscular dystrophy
- Disease variant
- Dystroglycanopathy
- Endoplasmic reticulum
- Glycosyltransferase
- Magnesium
- Manganese
- Metal-binding
- Phosphoprotein
- Reference proteome
- Gene Ontology (GO)
| GO Term |
|---|
| nucleus |
| membrane |
| endoplasmic reticulum |
| endoplasmic reticulum membrane |
| dolichol-phosphate-mannose synthase complex |
Sequence
MASLEVSRSPRRSRRELEVRSPRQNKYSVLLPTYNERENLPLIVWLLVKSFSESGINYEIIIIDDGSPDGTRDVAEQLEKIYGSDRILLRPREKKLGLGTAYIHGMKHATGNYIIIMDADLSHHPKFIPEFIRKQKEGNFDIVSGTRYKGNGGVYGWDLKRKIISRGANFLTQILLRPGASDLTGSFRLYRKEVLEKLIEKCVSKGYVFQMEMIVRARQLNYTIGEVPISFVDRVYGESKLGGNEIVSFLKGLLTLFATT
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
|
|
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Defective DPM1 causes CDG-1e | Homo sapiens |
| Defective DPM2 causes CDG-1u | Homo sapiens |
| Defective DPM3 causes CDG-1o | Homo sapiens |
| Synthesis of dolichyl-phosphate mannose | Homo sapiens |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0080094 | myofibrillar myopathy 3 | |
| DOID:0050557 | congenital muscular dystrophy | |
| DOID:0050570 | congenital disorder of glycosylation type I | |
| DOID:0060255 | rippling muscle disease 2 | |
| DOID:0070247 | autosomal dominant Emery-Dreifuss muscular dystrophy 2 | |
| DOID:0080087 | nonsyndromic congenital nail disorder 9 | |
| DOID:0080092 | myofibrillar myopathy 1 | |
| DOID:0080557 | congenital disorder of glycosylation Ie | |
| DOID:0080568 | congenital disorder of glycosylation Iq | |
| DOID:0110273 | autosomal dominant limb-girdle muscular dystrophy |
