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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Dolichol-phosphate mannosyltransferase subunit 3
Summary
- UniProt ID
- Q9P2X0
- Gene Symbol
-
- DPM3
- Organism
- Homo sapiens (human)
External Links
- GlyGen
- Q9P2X0
- PubChem
- Q9P2X0
- The Human Metabolome Database
- HMDBP11714
- The O-GlcNAc Database
- Q9P2X0
Annotation
- Keyword
-
- Alternative splicing
- Congenital disorder of glycosylation
- Congenital muscular dystrophy
- Direct protein sequencing
- Disease variant
- Dystroglycanopathy
- Endoplasmic reticulum
- Reference proteome
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| endoplasmic reticulum |
| endoplasmic reticulum membrane |
| mannosyltransferase complex |
| dolichol-phosphate-mannose synthase complex |
| membrane |
| GO Term |
|---|
| enzyme activator activity |
Sequence
MTKLAQWLWGLAILGSTWVALTTGALGLELPLSCQEVLWPLPAYLLVSAGCYALGTVGYRVATFHDCEDAARELQSQIQEARADLARRGLRF
Glycosylation Sites
G57321FI
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:0050557 | congenital muscular dystrophy | |
| DOID:0050570 | congenital disorder of glycosylation type I | |
| DOID:0050700 | cardiomyopathy | |
| DOID:0060255 | rippling muscle disease 2 | |
| DOID:0070247 | autosomal dominant Emery-Dreifuss muscular dystrophy 2 | |
| DOID:0080092 | myofibrillar myopathy 1 | |
| DOID:0080094 | myofibrillar myopathy 3 | |
| DOID:0110273 | autosomal dominant limb-girdle muscular dystrophy | |
| DOID:0110274 | autosomal recessive limb-girdle muscular dystrophy | |
| DOID:0110275 | autosomal recessive limb-girdle muscular dystrophy type 2A |
