|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeName
|
gptkb:Fibrillin-1
|
|
gptkbp:associatedWith
|
gptkb:Ectopia_lentis
gptkb:Familial_thoracic_aortic_aneurysm
gptkb:Weill-Marchesani_syndrome
gptkb:Marfan_syndrome
|
|
gptkbp:biologicalProcess
|
extracellular matrix organization
skeletal system development
structural molecule activity
|
|
gptkbp:cellularComponent
|
extracellular region
|
|
gptkbp:discoveredIn
|
1991
|
|
gptkbp:disulfideBond
|
present
|
|
gptkbp:domain
|
EGF-like domain
Calcium-binding EGF-like domain
Fibrillin-type domain
|
|
gptkbp:encodedBy
|
gptkb:FBN1_gene
|
|
gptkbp:ensembl
|
gptkb:ENSG00000166147
|
|
gptkbp:Entrez_Gene_ID
|
2200
|
|
gptkbp:expressedIn
|
widely expressed
|
|
gptkbp:function
|
regulation of TGF-beta signaling
structural component of extracellular matrix
|
|
gptkbp:gene
|
gptkb:FBN1
|
|
gptkbp:glycosylation
|
present
|
|
gptkbp:hasIsoform
|
2 isoforms described
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
FBN1 HUMAN
|
|
gptkbp:length
|
2871 amino acids
|
|
gptkbp:literatureReference
|
PMID: 2030158
PMID: 2030159
|
|
gptkbp:locatedOnChromosome
|
15q21.1
|
|
gptkbp:location
|
extracellular matrix
|
|
gptkbp:molecularWeight
|
320 kDa
|
|
gptkbp:mutationAssociatedWith
|
connective tissue disorders
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
Fbn1_MOUSE
fbn1_RAT
|
|
gptkbp:PDB
|
1EMN
|
|
gptkbp:postTranslationalModification
|
glycosylation
disulfide bond
|
|
gptkbp:proteinFamily
|
gptkb:fibrillin_family
|
|
gptkbp:RefSeq
|
NP_000129.3
|
|
gptkbp:reviewedBy
|
yes
|
|
gptkbp:sequenceStatus
|
complete
|
|
gptkbp:signalPeptide
|
present
|
|
gptkbp:subunit
|
homopolymer
|
|
gptkbp:UniProtID
|
gptkb:P35555
|
|
gptkbp:variant
|
pathogenic variants reported
|
|
gptkbp:bfsParent
|
gptkb:FBN1_gene
|
|
gptkbp:bfsLayer
|
7
|