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Ribitol 5-phosphate transferase FKRP
Summary
- UniProt ID
- Q8CG64
- Gene Symbol
-
- Fkrp
- Gene ID
- 243853
- Organism
- Mus musculus (house mouse)
External Links
- Re-Glyco
- Q8CG64
Annotation
- Keyword
-
- Cell membrane
- Cytoplasm
- Disulfide bond
- Endoplasmic reticulum
- Glycoprotein
- Golgi apparatus
- Magnesium
- Metal-binding
- Reference proteome
- Secreted
- Signal-anchor
- Transferase
- Transmembrane helix
- Zinc
- Gene Ontology (GO)
| GO Term |
|---|
| extracellular space |
| Golgi membrane |
| nucleoplasm |
| rough endoplasmic reticulum |
| Golgi apparatus |
| cytosol |
| sarcolemma |
| skeletal muscle myofibril |
| GO Term |
|---|
| gene expression |
| in utero embryonic development |
| neuron migration |
| respiratory system process |
| glycolytic process |
| protein glycosylation |
| lipid metabolic process |
| muscle contraction |
| inflammatory response |
| central nervous system development |
| GO Term |
|---|
| identical protein binding |
| dystroglycan binding |
| laminin binding |
| metal ion binding |
| phosphotransferase activity, for other substituted phosphate groups |
Sequence
MRLTRCWAALAAAIILNLLVFFYVSWLQHQPRNSRARGPRRTSAIGPRVTVLIREFEAFDNAVPELVDSFLQQDPAQPVVVAADTLPYPPLALPRIPNVRLALLQPALDRPAAASRPETYVATEFVALVPDGARAESPGHLERMVEALRGSSARLVAAPVATANPARCLALNVSLREWTARYDPAPSAPRCDALDGDAVLLMRSRDLFNLSVPLARPLATSLFLQTALRGWAVQLLDLTFAAARQPPLATAHARWKAEREGRSRRAALLRSLGIRLVSWEGGRLEWFGCSKESARCFGTVAGDTPAYLYEGRWTPPCCLRALRETARYVVGVLEAAGVRYWLEGGSLLGAARHGDIIPWDYDVDLGIYLEDVGNCEQLRGAEAGSVVDERGFVWEKAVEGDFFRVQYSENNHLHVDLWPFYPRNGVMTKDTWLDHRQDVEFPEHFLQPLVPLPFAGFMAQAPNNYRRFLELKFGPGVIENPEYPNPALLSLTGG
Glycosylation Sites
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050588 | muscular dystrophy-dystroglycanopathy type B1 | |
| DOID:0110299 | autosomal recessive limb-girdle muscular dystrophy type 2I | |
| DOID:0110635 | muscular dystrophy-dystroglycanopathy type B5 | |
| DOID:9884 | muscular dystrophy |
