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Ribitol-5-phosphate transferase FKTN
Summary
- UniProt ID
- O75072
- Gene Symbol
-
- FCMD
- FKTN
- Gene ID
- 2218
- Organism
- Homo sapiens (human)
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 |
|---|
| extracellular space |
| nucleus |
| Golgi membrane |
| endoplasmic reticulum |
| Golgi apparatus |
| 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:0050559 | Fukuyama congenital muscular dystrophy | |
| DOID:0050560 | Walker-Warburg syndrome | |
| DOID:0110284 | autosomal recessive limb-girdle muscular dystrophy type 2L | |
| DOID:0110296 | autosomal recessive limb-girdle muscular dystrophy type 2M | |
| DOID:0110443 | dilated cardiomyopathy 1B | |
| DOID:0110444 | dilated cardiomyopathy 1X | |
| DOID:0112379 | muscular dystrophy-dystroglycanopathy type B4 | |
| DOID:9884 | muscular dystrophy |
