Fibulin 5 (FBLN5)

ARMD3; DANCE; EVEC; UP50; FIBL-5; Dance; Developmental arteries and neural crest EGF-like protein

SPN	T629
HGNC	3602
MGI	1346091
PubMed	15269314
RGD	2594
UniProt	Q9UBX5
Wiki	FBLN5

Fibulin-5 is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels.

However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3).

Reference

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"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]

"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Fibulin 5 forms a compact dimer in physiological solutions."
J. Biol. Chem. 284:25938-25943(2009) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa."
Hum. Mol. Genet. 11:2113-2118(2002) [PubMed] [Europe PMC] [Abstract]

"Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene."
Am. J. Hum. Genet. 72:998-1004(2003) [PubMed] [Europe PMC] [Abstract]

"Missense variations in the fibulin 5 gene and age-related macular degeneration."
N. Engl. J. Med. 351:346-353(2004) [PubMed] [Europe PMC] [Abstract]

"Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa."
Hum. Mol. Genet. 15:3379-3386(2006) [PubMed] [Europe PMC] [Abstract]

"Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa."
Hum. Mutat. 27:568-574(2006) [PubMed] [Europe PMC] [Abstract]

"Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype."
J. Invest. Dermatol. 126:1506-1509(2006) [PubMed] [Europe PMC] [Abstract]

"A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model."
J. Invest. Dermatol. 128:1442-1450(2008) [PubMed] [Europe PMC] [Abstract]

"An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism."
J. Invest. Dermatol. 129:1650-1655(2009) [PubMed] [Europe PMC] [Abstract]

"Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa."
Invest. Ophthalmol. Vis. Sci. 51:2356-2362(2010) [PubMed] [Europe PMC] [Abstract]

"Biophysical characterisation of fibulin-5 proteins associated with disease."
J. Mol. Biol. 401:605-617(2010) [PubMed] [Europe PMC] [Abstract]