Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
|
| gptkbp:associatedWith |
gptkb:Marfan_syndrome
|
| gptkbp:discoveredBy |
gptkb:Franz-Ulrich_Hartl
|
| gptkbp:domain |
EGF-like domain
calcium-binding domain |
| gptkbp:encodedBy |
gptkb:FBN1_gene
|
| gptkbp:expressedIn |
gptkb:skeletal_muscle
|
| gptkbp:foundIn |
extracellular matrix
|
| gptkbp:function |
structural support
microfibril formation |
| https://www.w3.org/2000/01/rdf-schema#label |
fibrillin-1
|
| gptkbp:length |
2871 amino acids
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_15q21.1
|
| gptkbp:molecularWeight |
350 kDa
|
| gptkbp:mutationAssociatedWith |
connective tissue disorders
|
| gptkbp:OMIM |
134797
|
| gptkbp:postTranslationalModification |
glycosylation
disulfide bond formation |
| gptkbp:relatedTo |
gptkb:Weill-Marchesani_syndrome
gptkb:ectopia_lentis |
| gptkbp:UniProtID |
gptkb:P35555
|
| gptkbp:bfsParent |
gptkb:FBN1_gene
gptkb:FBN1 |
| gptkbp:bfsLayer |
7
|