FBLN5
| Fibulin 5 | |||||||||||
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| Symbols | FBLN5 ; ARMD3; DANCE; EVEC; FLJ90059; UP50 | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 38170 | ||||||||||
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| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
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| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
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Fibulin 5, also known as FBLN5, is a human gene.[1]
The protein encoded by this gene 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.[1]
References
Further reading
- Nakamura T, Ruiz-Lozano P, Lindner V; et al. (1999). "DANCE, a novel secreted RGD protein expressed in developing, atherosclerotic, and balloon-injured arteries". J. Biol. Chem. 274 (32): 22476–83. PMID 10428823.
- Kowal RC, Jolsin JM, Olson EN, Schultz RA (2000). "Assignment of fibulin-5 (FBLN5) to human chromosome 14q31 by in situ hybridization and radiation hybrid mapping". Cytogenet. Cell Genet. 87 (1–2): 2–3. PMID 10640802.
- Kobayashi M, Hanai R (2001). "M phase-specific association of human topoisomerase IIIbeta with chromosomes". Biochem. Biophys. Res. Commun. 287 (1): 282–7. doi:10.1006/bbrc.2001.5580. PMID 11549288.
- Yanagisawa H, Davis EC, Starcher BC; et al. (2002). "Fibulin-5 is an elastin-binding protein essential for elastic fibre development in vivo". Nature. 415 (6868): 168–71. doi:10.1038/415168a. PMID 11805834.
- Nakamura T, Lozano PR, Ikeda Y; et al. (2002). "Fibulin-5/DANCE is essential for elastogenesis in vivo". Nature. 415 (6868): 171–5. doi:10.1038/415171a. PMID 11805835.
- Kapetanopoulos A, Fresser F, Millonig G; et al. (2002). "Direct interaction of the extracellular matrix protein DANCE with apolipoprotein(a) mediated by the kringle IV-type 2 domain". Mol. Genet. Genomics. 267 (4): 440–6. doi:10.1007/s00438-002-0673-6. PMID 12111551.
- Loeys B, Van Maldergem L, Mortier G; et al. (2003). "Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa". Hum. Mol. Genet. 11 (18): 2113–8. PMID 12189163.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Markova D, Zou Y, Ringpfeil F; et al. (2003). "Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene". Am. J. Hum. Genet. 72 (4): 998–1004. PMID 12618961.
- Clark HF, Gurney AL, Abaya E; et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMID 12975309.
- Liu X, Zhao Y, Gao J; et al. (2004). "Elastic fiber homeostasis requires lysyl oxidase-like 1 protein". Nat. Genet. 36 (2): 178–82. doi:10.1038/ng1297. PMID 14745449.
- Stone EM, Braun TA, Russell SR; et al. (2004). "Missense variations in the fibulin 5 gene and age-related macular degeneration". N. Engl. J. Med. 351 (4): 346–53. doi:10.1056/NEJMoa040833. PMID 15269314.
- Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
- Nguyen AD, Itoh S, Jeney V; et al. (2005). "Fibulin-5 is a novel binding protein for extracellular superoxide dismutase". Circ. Res. 95 (11): 1067–74. doi:10.1161/01.RES.0000149568.85071.FB. PMID 15528465.
- Wang X, LeMaire SA, Chen L; et al. (2005). "Decreased expression of fibulin-5 correlates with reduced elastin in thoracic aortic dissection". Surgery. 138 (2): 352–9. doi:10.1016/j.surg.2005.06.006. PMID 16153447.
- Otsuki T, Ota T, Nishikawa T; et al. (2007). "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 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.
- Hu Q, Reymond JL, Pinel N; et al. (2006). "Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and fibulin-5 genes". J. Invest. Dermatol. 126 (2): 283–90. doi:10.1038/sj.jid.5700047. PMID 16374472.
- Elahi E, Kalhor R, Banihosseini SS; et al. (2006). "Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype". J. Invest. Dermatol. 126 (7): 1506–9. doi:10.1038/sj.jid.5700247. PMID 16691202.
- Lim J, Hao T, Shaw C; et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569.
- Kuang PP, Joyce-Brady M, Zhang XH; et al. (2007). "Fibulin-5 gene expression in human lung fibroblasts is regulated by TGF-beta and phosphatidylinositol 3-kinase activity". Am. J. Physiol., Cell Physiol. 291 (6): C1412–21. doi:10.1152/ajpcell.00087.2006. PMID 16837650.
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