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fibulin-5 (FIBL-5, developmental arteries & neural crest EGF-like protein, Dance, urine p50 protein, UP50, FBLN5, UNQ184/PRO210)
Function:
1) promotes adhesion of endothelial cells through interaction of integrins & the RGD motif
2) vascular ligand for integrin receptors
3) vascular development & remodeling (putative)
Compartment: secreted
Expression:
- expressed in heart, ovary, colon > kidney, pancreas, testis, lung, placenta
- not expressed in brain, liver, thymus, prostate, peripheral blood leukocytes
Pathology:
1) defects in FBLN5 are associated with cutis laxa (autosomal dominant & autosomal recessive)
2) defects in FBLN5 are associated with age-related macular degeneration 3 (ARMD3)
General
fibulin
Properties
SIZE: MW = 50 kD
entity length = 448 aa
COMPARTMENT: extracellular matrix
MOTIF: signal sequence {1-23}
EGF domain {42-82}
MOTIF: cysteine residue {C46}
MODIFICATION: cysteine residue {C59}
cysteine residue {C53}
MODIFICATION: cysteine residue {C68}
cysteine residue {C59}
MODIFICATION: cysteine residue {C46}
cysteine residue {C68}
MODIFICATION: cysteine residue {C53}
EGF domain {127-167}
MOTIF: cysteine residue {C131}
MODIFICATION: cysteine residue {C144}
cysteine residue {C138}
MODIFICATION: cysteine residue {C153}
cysteine residue {C144}
MODIFICATION: cysteine residue {C131}
cysteine residue {C153}
MODIFICATION: cysteine residue {C138}
cysteine residue {C155}
MODIFICATION: cysteine residue {C166}
cysteine residue {C166}
MODIFICATION: cysteine residue {C155}
EGF domain {168-206}
MOTIF: cysteine residue {C172}
MODIFICATION: cysteine residue {C181}
cysteine residue {C177}
MODIFICATION: cysteine residue {C190}
cysteine residue {C181}
MODIFICATION: cysteine residue {C172}
cysteine residue {C190}
MODIFICATION: cysteine residue {C177}
cysteine residue {C192}
MODIFICATION: cysteine residue {C205}
cysteine residue {C205}
MODIFICATION: cysteine residue {C192}
EGF domain {207-246}
MOTIF: cysteine residue {C211}
MODIFICATION: cysteine residue {C221}
cysteine residue {C217}
MODIFICATION: cysteine residue {C230}
cysteine residue {C221}
MODIFICATION: cysteine residue {C211}
cysteine residue {C230}
MODIFICATION: cysteine residue {C217}
cysteine residue {C232}
MODIFICATION: cysteine residue {C245}
cysteine residue {C245}
MODIFICATION: cysteine residue {C232}
EGF domain {247-287}
MOTIF: cysteine residue {C251}
MODIFICATION: cysteine residue {C262}
cysteine residue {C258}
MODIFICATION: cysteine residue {C271}
cysteine residue {C262}
MODIFICATION: cysteine residue {C251}
cysteine residue {C271}
MODIFICATION: cysteine residue {C258}
cysteine residue {C273}
MODIFICATION: cysteine residue {C286}
N-glycosylation site {N283}
cysteine residue {C286}
MODIFICATION: cysteine residue {C273}
EGF domain {288-333}
MOTIF: cysteine residue {C292}
MODIFICATION: cysteine residue {C305}
N-glycosylation site {N296}
cysteine residue {C299}
MODIFICATION: cysteine residue {C314}
cysteine residue {C305}
MODIFICATION: cysteine residue {C292}
cysteine residue {C314}
MODIFICATION: cysteine residue {C299}
cysteine residue {C320}
MODIFICATION: cysteine residue {C332}
cysteine residue {C332}
MODIFICATION: cysteine residue {C320}
Database Correlations
OMIM correlations
MORBIDMAP 604580
UniProt Q9UBX5
Pfam PF07645
References
UniProt :accession Q9UBX5