Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
|
| gptkbp:associatedWith |
gptkb:Ectopia_lentis
gptkb:Weill-Marchesani_syndrome gptkb:Marfan_syndrome gptkb:Shprintzen-Goldberg_syndrome |
| gptkbp:discoveredBy |
gptkb:Francesco_Ramirez
|
| gptkbp:domain |
EGF-like domain
calcium-binding domain |
| gptkbp:encodedBy |
gptkb:FBN1_gene
|
| gptkbp:firstDescribed |
1991
|
| gptkbp:foundIn |
extracellular matrix
|
| gptkbp:function |
structural support
microfibril formation |
| https://www.w3.org/2000/01/rdf-schema#label |
fibrillin-1 protein
|
| gptkbp:interactsWith |
latent TGF-beta binding proteins
|
| gptkbp:length |
2871 amino acids
|
| gptkbp:locatedOnChromosome |
15q21.1
|
| gptkbp:location |
gptkb:chromosome_15q21.1
|
| gptkbp:molecularWeight |
~350 kDa
|
| gptkbp:mutationAssociatedWith |
connective tissue disorders
|
| gptkbp:OMIM |
134797
|
| gptkbp:postTranslationalModification |
glycosylation
disulfide bond formation |
| gptkbp:presentIn |
humans
vertebrates |
| gptkbp:role |
elastic fiber assembly
|
| gptkbp:UniProtID |
gptkb:P35555
|
| gptkbp:bfsParent |
gptkb:FBN1
|
| gptkbp:bfsLayer |
7
|