FBLN5

FBLN5
Identifiers
Aliases	FBLN5 , ADCL2, ARCL1A, ARMD3, DANCE, EVEC, FIBL-5, UP50, HNARMD, fibulin 5, CMT1H
External IDs	OMIM: 604580; MGI: 1346091; HomoloGene: 38170; GeneCards: FBLN5; OMA:FBLN5 - orthologs
Gene location (Human) Chr. Chromosome 14 (human) [1] Band 14q32.12 Start 91,869,411 bp [1] End 91,947,987 bp [1]
Gene location (Mouse) Chr. Chromosome 12 (mouse) [2] Band 12|12 E Start 101,712,824 bp [2] End 101,785,314 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in thoracic aorta ascending aorta Descending thoracic aorta right lung right coronary artery stromal cell of endometrium left coronary artery gallbladder popliteal artery tibial arteries Top expressed in external carotid artery ascending aorta tunica media of zone of aorta internal carotid artery semi-lunar valve umbilical cord stroma of bone marrow aortic valve left lung lobe sciatic nerve More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein C-terminus binding calcium ion binding protein homodimerization activity protein binding integrin binding extracellular matrix constituent conferring elasticity Cellular component extracellular exosome extracellular matrix elastic fiber extracellular space extracellular region collagen-containing extracellular matrix Biological process secretion regulation of cell growth regulation of removal of superoxide radicals cell-matrix adhesion extracellular matrix organization protein localization to cell surface cell adhesion elastic fiber assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10516 23876 Ensembl ENSG00000140092 ENSMUSG00000021186 UniProt Q9UBX5 Q9WVH9 RefSeq (mRNA) NM_006329 NM_001384158 NM_001384159 NM_001384160 NM_001384161 NM_001384162 NM_011812 NM_001361987 RefSeq (protein) NP_006320 NP_001371087 NP_001371088 NP_001371089 NP_001371090 NP_001371091 NP_035942 NP_001348916 Location (UCSC) Chr 14: 91.87 – 91.95 Mb Chr 12: 101.71 – 101.79 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Fibulin-5 (also known as DANCE (developmental arteries and neural crest epidermal growth factor (EGF)-like)) is a protein that in humans is encoded by the FBLN5 gene. ^{[5] [6]}

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. ^[6]

Interactions

FBLN5 has been shown to interact with LOXL1 ^[7] and apolipoprotein(a). ^[8]

Clinical relevance

FBLN5 mutations have been described in patients with age-related macular degeneration, as well as being involved in Charcot-Marie-Tooth neuropathies. ^[9]

References

1. GRCh38: Ensembl release 89: ENSG00000140092 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000021186 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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. S2CID   43874486.
6. "Entrez Gene: FBLN5 fibulin 5".
7. 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.
8. Kapetanopoulos A, Fresser F, Millonig G, Shaul Y, Baier G, Utermann G (June 2002). "Direct interaction of the extracellular matrix protein DANCE with apolipoprotein(a) mediated by the kringle IV-type 2 domain". Molecular Genetics and Genomics. 267 (4): 440–6. doi:10.1007/s00438-002-0673-6. PMID   12111551. S2CID   24503244.
9. 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. 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. S2CID   4429170.
• 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. S2CID   4343659.
• 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. 267 (4): 440–6. doi:10.1007/s00438-002-0673-6. PMID   12111551. S2CID   24503244.
• 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. S2CID   23947068.
• 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. 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

• GeneReview/NIH/UW entry on FBLN5-Related Cutis Laxa