FBLN5
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| Fibulin 5 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | FBLN5; ADCL2; ARCL1A; ARMD3; DANCE; EVEC; FIBL-5; UP50 | ||||||||||||
| External IDs | OMIM: 604580 MGI: 1346091 HomoloGene: 38170 GeneCards: FBLN5 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 10516 | 23876 | |||||||||||
| Ensembl | ENSG00000140092 | ENSMUSG00000021186 | |||||||||||
| UniProt | Q9UBX5 | Q9WVH9 | |||||||||||
| RefSeq (mRNA) | NM_006329 | NM_011812 | |||||||||||
| RefSeq (protein) | NP_006320 | NP_035942 | |||||||||||
| Location (UCSC) | Chr 14: 92.34 – 92.41 Mb | Chr 12: 101.75 – 101.82 Mb | |||||||||||
| PubMed search | |||||||||||||
Fibulin-5 is a protein that in humans is encoded by the FBLN5 gene.[1][2]
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.[2]
Interactions
FBLN5 has been shown to interact with LOXL1.[3]
Clinical relevance
FBLN5 mutations have been described in patients with age-related macular degeneration, as well as being involved in Charcot-Marie-Tooth neuropathies.[4]
References
- ↑ Kowal RC, Jolsin JM, Olson EN, Schultz RA (May 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. doi:10.1159/000015382. PMID 10640802.
- ↑ 2.0 2.1 "Entrez Gene: FBLN5 fibulin 5".
- ↑ Liu, Xiaoqing; Zhao Yun, Gao Jiangang, Pawlyk Basil, Starcher Barry, Spencer Jeffrey A, Yanagisawa Hiromi, Zuo Jian, Li Tiansen (Feb 2004). "Elastic fiber homeostasis requires lysyl oxidase-like 1 protein". Nat. Genet. (United States) 36 (2): 178–82. doi:10.1038/ng1297. ISSN 1061-4036. PMID 14745449.
- ↑ Auer-Grumbach, M; Weger, M, Fink-Puches, R, Papic, L, Fröhlich, E, Auer-Grumbach, P, El Shabrawi-Caelen, L, Schabhüttl, M, Windpassinger, C, Senderek, J, Budka, H, Trajanoski, S, Janecke, AR, Haas, A, Metze, D, Pieber, TR, Guelly, C (May 15, 2011). "Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin". Brain : a journal of neurology 134 (Pt 6): 1839–52. doi:10.1093/brain/awr076. PMID 21576112.
External links
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. doi:10.1074/jbc.274.32.22476. PMID 10428823.
- 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. doi:10.1093/hmg/11.18.2113. 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. PMC 139241. 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. doi:10.1086/373940. PMC 1180361. 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. PMC 403697. 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. PMC 528928. 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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