|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Ectopia_lentis
gptkb:Familial_thoracic_aortic_aneurysm
gptkb:Weill-Marchesani_syndrome
gptkb:Marfan_syndrome
|
|
gptkbp:biologicalProcess
|
eye development
extracellular matrix organization
regulation of growth factor activity
skeletal system development
structural molecule activity
|
|
gptkbp:cellularComponent
|
extracellular region
microfibril
|
|
gptkbp:discoveredBy
|
gptkb:Dietz_et_al.
|
|
gptkbp:discoveredIn
|
1991
|
|
gptkbp:encodes
|
gptkb:fibrillin-1_protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000166147
2200
|
|
gptkbp:fullName
|
gptkb:fibrillin-1
|
|
gptkbp:function
|
regulation of TGF-beta signaling
structural component of extracellular matrix
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:3603
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
FBN1
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:length
|
2871 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_15
15q21.1
|
|
gptkbp:mutationAssociatedWith
|
nonsense
missense
aortic aneurysm
frameshift
skeletal abnormalities
connective tissue disorder
lens dislocation
splice-site
|
|
gptkbp:numberOfExons
|
65
|
|
gptkbp:OMIM
|
134797
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Fbn1
|
|
gptkbp:pathway
|
gptkb:TGF-beta_signaling_pathway
extracellular matrix organization
|
|
gptkbp:proteinFamily
|
EGF-like domain
TB (transforming growth factor beta-binding) domain
calcium-binding EGF-like domain
|
|
gptkbp:tissue_specificity
|
gptkb:cancer
gptkb:skin
gptkb:aorta
gptkb:skeletal_muscle
eye
|
|
gptkbp:UniProtID
|
gptkb:P35555
|
|
gptkbp:bfsParent
|
gptkb:chromosome_15
|
|
gptkbp:bfsLayer
|
6
|