Search
fibrillin-1 (FBN1 FBN)
Function:
- fibrillins are structural components of 10-12 nm extracellular Ca+2-binding microfibrils, which occur either in association with elastin or in elastin-free bundles
- fibrillin-1-containing microfibrils provide long-term force bearing structural support
- regulates osteoblast maturation by controlling TGF-beta bioavailability & calibrating TGF-beta & BMP levels, respectively (putative)
- forms intermolecular disulfide bonds either with other fibrillin-1 molecules or with other components of the microfibrils
- interacts with COL16A1
- interacts with integrin alpha-V/beta-3
- interacts with ADAMTSL4
Structure:
- belongs to the fibrillin family
- contains 47 EGF-like domains
- contains 9 TB (TGF-beta binding) domains
Compartment:
- secreted, extracellular space, extracellular matrix
Pathology:
- the majority of the > 600 mutations in FBN1 known are point mutations
- frameshifts & splice site mutations are also known
- defects in FBN1 are a cause of
a) Marfan syndrome
b) isolated ectopia lentis
c) Shprintzen-Goldberg craniosynostosis syndrome
d) overlap connective tissue disease
e) stiff skin syndrome
- defects in FBN1 are the cause
a) Weill-Marchesani syndrome (autosomal dominant)
b) geleophysic dysplasia type 2
c) acromicric dysplasia
General
fibrillin
phosphoprotein
Properties
SIZE: entity length = 2871 aa
MW = 312 kD
COMPARTMENT: lysosome
MOTIF: signal sequence {1-27}
EGF domain {81-2687} (47)
MOTIF: cysteine residue {C85}
MODIFICATION: cysteine residue {C94}
cysteine residue {C89}
MODIFICATION: cysteine residue {C100}
cysteine residue {C94}
MODIFICATION: cysteine residue {C85}
cysteine residue {C100}
MODIFICATION: cysteine residue {C89}
cysteine residue {C102}
MODIFICATION: cysteine residue {C111}
cysteine residue {C111}
MODIFICATION: cysteine residue {C102}
TGF-beta binding domain {184-236} (9)
proline-rich region
SITE: 402-446
MOTIF: proline residue (SEVERAL)
N-glycosylation site {N448}
N-glycosylation site {N2734}
N-glycosylation site {N2750}
N-glycosylation site {N2767}
Database Correlations
OMIM correlations
MORBIDMAP 134797
UniProt P35555
PFAM correlations
Entrez Gene 2200
Kegg hsa:2200
References
- UniProt :accession P35555
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/FBN1