Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
myofibrillar myopathy
limb-girdle muscular dystrophy type 1A |
| gptkbp:discoveredIn |
1999
|
| gptkbp:encodedBy |
MYOT gene
|
| gptkbp:foundIn |
gptkb:human
gptkb:skeletal_muscle |
| gptkbp:function |
muscle structural protein
|
| https://www.w3.org/2000/01/rdf-schema#label |
myotilin
|
| gptkbp:interactsWith |
gptkb:actin
gptkb:filamin_C gptkb:alpha-actinin |
| gptkbp:length |
498 amino acids
|
| gptkbp:locale |
Z-disc of sarcomere
|
| gptkbp:locatedOnChromosome |
5q31
|
| gptkbp:molecularWeight |
57 kDa
|
| gptkbp:mutationAssociatedWith |
muscle weakness
|
| gptkbp:orthologIn |
gptkb:mouse
right |
| gptkbp:structure |
contains immunoglobulin-like domains
|
| gptkbp:UniProtID |
Q9UBF9
|
| gptkbp:bfsParent |
gptkb:filamin_C
|
| gptkbp:bfsLayer |
8
|