FBLN5

Fibulin 5
Identifiers
Symbols FBLN5 ; ADCL2; ARCL1A; ARMD3; DANCE; EVEC; FIBL-5; UP50
External IDs OMIM: 604580 MGI: 1346091 HomoloGene: 38170 GeneCards: FBLN5 Gene
RNA expression pattern
More reference expression data
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:
91.87 – 91.95 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]

Function

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

  1. ↑ 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". Cytogenetics and Cell Genetics 87 (1-2): 2–3. doi:10.1159/000015382. PMID 10640802.
  2. 1 2 "Entrez Gene: FBLN5 fibulin 5".
  3. ↑ Liu X, Zhao Y, Gao J, Pawlyk B, Starcher B, Spencer JA, Yanagisawa H, Zuo J, Li T (Feb 2004). "Elastic fiber homeostasis requires lysyl oxidase-like 1 protein". Nature Genetics 36 (2): 178–82. doi:10.1038/ng1297. PMID 14745449.
  4. ↑ Auer-Grumbach M, Weger M, Fink-Puches R, Papić 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 (Jun 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. PMC 3272386. PMID 21576112.

Further reading

  • Nakamura T, Ruiz-Lozano P, Lindner V, Yabe D, Taniwaki M, Furukawa Y, Kobuke K, Tashiro K, Lu Z, Andon NL, Schaub R, Matsumori A, Sasayama S, Chien KR, Honjo T (Aug 1999). "DANCE, a novel secreted RGD protein expressed in developing, atherosclerotic, and balloon-injured arteries". The Journal of Biological Chemistry 274 (32): 22476–83. doi:10.1074/jbc.274.32.22476. PMID 10428823. 
  • Kobayashi M, Hanai R (Sep 2001). "M phase-specific association of human topoisomerase IIIbeta with chromosomes". Biochemical and Biophysical Research Communications 287 (1): 282–7. doi:10.1006/bbrc.2001.5580. PMID 11549288. 
  • Yanagisawa H, Davis EC, Starcher BC, Ouchi T, Yanagisawa M, Richardson JA, Olson EN (Jan 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, Iwanaga Y, Hinek A, Minamisawa S, Cheng CF, Kobuke K, Dalton N, Takada Y, Tashiro K, Ross Jr J, Honjo T, Chien KR (Jan 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, Shaul Y, Baier G, Utermann G (Jun 2002). "Direct interaction of the extracellular matrix protein DANCE with apolipoprotein(a) mediated by the kringle IV-type 2 domain". Molecular Genetics and Genomics : MGG 267 (4): 440–6. doi:10.1007/s00438-002-0673-6. PMID 12111551. 
  • Loeys B, Van Maldergem L, Mortier G, Coucke P, Gerniers S, Naeyaert JM, De Paepe A (2002). "Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa". Human Molecular Genetics 11 (18): 2113–8. doi:10.1093/hmg/11.18.2113. PMID 12189163. 
  • Markova D, Zou Y, Ringpfeil F, Sasaki T, Kostka G, Timpl R, Uitto J, Chu ML (Apr 2003). "Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene". American Journal of Human Genetics 72 (4): 998–1004. doi:10.1086/373940. PMC 1180361. PMID 12618961. 
  • Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A (Oct 2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Research 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309. 
  • Liu X, Zhao Y, Gao J, Pawlyk B, Starcher B, Spencer JA, Yanagisawa H, Zuo J, Li T (Feb 2004). "Elastic fiber homeostasis requires lysyl oxidase-like 1 protein". Nature Genetics 36 (2): 178–82. doi:10.1038/ng1297. PMID 14745449. 
  • Stone EM, Braun TA, Russell SR, Kuehn MH, Lotery AJ, Moore PA, Eastman CG, Casavant TL, Sheffield VC (Jul 2004). "Missense variations in the fibulin 5 gene and age-related macular degeneration". The New England Journal of Medicine 351 (4): 346–53. doi:10.1056/NEJMoa040833. PMID 15269314. 
  • Nguyen AD, Itoh S, Jeney V, Yanagisawa H, Fujimoto M, Ushio-Fukai M, Fukai T (November 4, 2004). "Fibulin-5 is a novel binding protein for extracellular superoxide dismutase". Circulation Research 95 (11): 1067–74. doi:10.1161/01.RES.0000149568.85071.FB. PMID 15528465. 
  • Wang X, LeMaire SA, Chen L, Carter SA, Shen YH, Gan Y, Bartsch H, Wilks JA, Utama B, Ou H, Thompson RW, Coselli JS, Wang XL (Aug 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, Hayashi K, Suzuki Y, Yamamoto J, Wakamatsu A, Kimura K, Sakamoto K, Hatano N, Kawai Y, Ishii S, Saito K, Kojima S, Sugiyama T, Ono T, Okano K, Yoshikawa Y, Aotsuka S, Sasaki N, Hattori A, Okumura K, Nagai K, Sugano S, Isogai T (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 Research : An International Journal for Rapid Publication of Reports on Genes and Genomes 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743. 
  • Hu Q, Reymond JL, Pinel N, Zabot MT, Urban Z (Feb 2006). "Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and fibulin-5 genes". The Journal of Investigative Dermatology 126 (2): 283–90. doi:10.1038/sj.jid.5700047. PMID 16374472. 
  • Elahi E, Kalhor R, Banihosseini SS, Torabi N, Pour-Jafari H, Houshmand M, Amini SS, Ramezani A, Loeys B (Jul 2006). "Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype". The Journal of Investigative Dermatology 126 (7): 1506–9. doi:10.1038/sj.jid.5700247. PMID 16691202. 
  • Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY (May 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, Jean JC, Goldstein RH (December 1, 2006). "Fibulin-5 gene expression in human lung fibroblasts is regulated by TGF-beta and phosphatidylinositol 3-kinase activity". American Journal of Physiology. Cell Physiology 291 (6): C1412–21. doi:10.1152/ajpcell.00087.2006. PMID 16837650. 

External links


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