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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Mannose-1-phosphate guanyltransferase beta
Summary
- UniProt ID
- Q9Y5P6
- Gene Symbol
-
- GMPPB
- Organism
- Homo sapiens (human)
External Links
- GlyGen
- Q9Y5P6
- PubChem
- Q9Y5P6
- The Human Metabolome Database
- HMDBP03736
- The O-GlcNAc Database
- Q9Y5P6
- RaftProt
- Q9Y5P6
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Congenital muscular dystrophy
- Cytoplasm
- Disease variant
- Dystroglycanopathy
- GTP-binding
- Limb-girdle muscular dystrophy
- Nucleotidyltransferase
- Reference proteome
- Gene Ontology (GO)
| GO Term |
|---|
| GDP-mannose biosynthetic process |
| protein glycosylation |
| GO Term |
|---|
| cytoplasm |
| GO Term |
|---|
| mannose-1-phosphate guanylyltransferase (GTP) activity |
| GTP binding |
Sequence
MKALILVGGYGTRLRPLTLSTPKPLVDFCNKPILLHQVEALAAAGVDHVILAVSYMSQVLEKEMKAQEQRLGIRISMSHEEEPLGTAGPLALARDLLSETADPFFVLNSDVICDFPFQAMVQFHRHHGQEGSILVTKVEEPSKYGVVVCEADTGRIHRFVEKPQVFVSNKINAGMYILSPAVLQRIQLQPTSIEKEVFPIMAKEGQLYAMELQGFWMDIGQPKDFLTGMCLFLQSLRQKQPERLCSGPGIVGNVLVDPSARIGQNCSIGPNVSLGPGVVVEDGVCIRRCTVLRDARIRSHSWLESCIVGWRCRVGQWVRMENVTVLGEDVIVNDELYLNGASVLPHKSIGESVPEPRIIM
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
|
|
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Synthesis of GDP-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:674 | cleft palate | |
| DOID:83 | cataract | |
| DOID:8927 | learning disability | |
| DOID:92 | speech disorder | |
| DOID:9306 | mechanical strabismus | |
| DOID:9649 | congenital nystagmus | |
| DOID:9650 | pathologic nystagmus | |
| DOID:9837 | hypertropia | |
| DOID:9840 | esotropia | |
| DOID:9884 | muscular dystrophy |
