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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Ribitol-5-phosphate transferase FKTN
Summary
- UniProt ID
- O75072
- Gene Symbol
-
- FKTN
- FCMD
- Organism
- Homo sapiens (human)
External Links
- PubChem
- O75072
Annotation
- Keyword
-
- Alternative splicing
- Cardiomyopathy
- Congenital muscular dystrophy
- Cytoplasm
- Disease variant
- Dystroglycanopathy
- Glycoprotein
- Golgi apparatus
- Limb-girdle muscular dystrophy
- Lissencephaly
- Nucleus
- Reference proteome
- Signal-anchor
- Transferase
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| Golgi membrane |
| extracellular space |
| nucleus |
| Golgi apparatus |
| endoplasmic reticulum |
| cis-Golgi network |
| GO Term |
|---|
| phosphotransferase activity, for other substituted phosphate groups |
Sequence
MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLIDPLILELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPLHYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVEEVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLGVPFWLSSGTCLGWYRQCNIIPYSKDVDLGIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLCWTEFVDMKVHVPCETLEYIEANYGKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 92 | N-linked (GlcNAc...) asparagine |
|
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:820 | myocarditis | |
| DOID:83 | cataract | |
| DOID:0050428 | nonepidermolytic palmoplantar keratoderma | |
| DOID:0050453 | lissencephaly | |
| DOID:0050463 | campomelic dysplasia | |
| DOID:0050557 | congenital muscular dystrophy | |
| DOID:0050559 | Fukuyama congenital muscular dystrophy | |
| DOID:0050560 | Walker-Warburg syndrome | |
| DOID:0050588 | muscular dystrophy-dystroglycanopathy type B1 | |
| DOID:0050700 | cardiomyopathy |
