|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Marfan_syndrome
|
|
gptkbp:discoveredBy
|
Francois Francke
|
|
gptkbp:discoveredIn
|
1991
|
|
gptkbp:domain
|
EGF-like domain
TB (transforming growth factor beta-binding) domain
calcium-binding EGF-like domain
|
|
gptkbp:encodedBy
|
gptkb:FBN1_gene
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
|
|
gptkbp:form
|
microfibrils
|
|
gptkbp:foundIn
|
extracellular matrix
|
|
gptkbp:function
|
structural support
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
fibrillin 1
|
|
gptkbp:length
|
2871 amino acids
|
|
gptkbp:locatedOnChromosome
|
15q21.1
|
|
gptkbp:molecularWeight
|
350 kDa
|
|
gptkbp:OMIM
|
134797
|
|
gptkbp:organism
|
gptkb:human
|
|
gptkbp:postTranslationalModification
|
glycosylation
disulfide bond formation
|
|
gptkbp:relatedTo
|
gptkb:Weill-Marchesani_syndrome
gptkb:ectopia_lentis
congenital contractural arachnodactyly
|
|
gptkbp:UniProtID
|
gptkb:P35555
|
|
gptkbp:bfsParent
|
gptkb:HGNC:5464
gptkb:HGNC:4172
gptkb:HGNC:4142
gptkb:HGNC:4440
gptkb:HGNC:5344
gptkb:HGNC:4017
gptkb:HGNC:3817
gptkb:HGNC:3821
gptkb:HGNC:4057
|
|
gptkbp:bfsLayer
|
8
|