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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''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]].<ref name="pmid10640802">{{cite journal | vauthors = Kowal RC, Jolsin JM, Olson EN, Schultz RA | title = Assignment of fibulin-5 (FBLN5) to human chromosome 14q31 by in situ hybridization and radiation hybrid mapping | journal = Cytogenetics and Cell Genetics | volume = 87 | issue = 1-2 | pages = 2–3 | date = May 2000 | pmid = 10640802 | pmc =  | doi = 10.1159/000015382 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: FBLN5 fibulin 5| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10516| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Fibulin 5
| HGNCid = 3602
| Symbol = FBLN5
| AltSymbols =; ARMD3; DANCE; EVEC; FLJ90059; UP50
| OMIM = 604580
| ECnumber = 
| Homologene = 38170
| MGIid = 1346091
| GeneAtlas_image1 = PBB_GE_FBLN5_203088_at_tn.png
| Function = {{GNF_GO|id=GO:0004888 |text = transmembrane receptor activity}} {{GNF_GO|id=GO:0005178 |text = integrin binding}} {{GNF_GO|id=GO:0005509 |text = calcium ion binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005578 |text = proteinaceous extracellular matrix}} {{GNF_GO|id=GO:0005625 |text = soluble fraction}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0007155 |text = cell adhesion}} {{GNF_GO|id=GO:0007160 |text = cell-matrix adhesion}} {{GNF_GO|id=GO:0007596 |text = blood coagulation}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 10516
    | Hs_Ensembl = ENSG00000140092
    | Hs_RefseqProtein = NP_006320
    | Hs_RefseqmRNA = NM_006329
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 14
    | Hs_GenLoc_start = 91405511
    | Hs_GenLoc_end = 91483788
    | Hs_Uniprot = Q9UBX5
    | Mm_EntrezGene = 23876
    | Mm_Ensembl = ENSMUSG00000021186
    | Mm_RefseqmRNA = NM_011812
    | Mm_RefseqProtein = NP_035942
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 12
    | Mm_GenLoc_start = 102147615
    | Mm_GenLoc_end = 102215723
    | Mm_Uniprot = Q9WVH9
  }}
}}
'''Fibulin 5''', also known as '''FBLN5''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: FBLN5 fibulin 5| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10516| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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.<ref name="entrez"/>
{{PBB_Summary
| section_title =
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: FBLN5 fibulin 5| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10516| accessdate = }}</ref>
}}


==References==
== Interactions ==
{{reflist|2}}
 
==Further reading==
FBLN5 has been shown to [[Protein-protein interaction|interact]] with [[LOXL1]] <ref name="pmid14745449">{{cite journal | vauthors = Liu X, Zhao Y, Gao J, Pawlyk B, Starcher B, Spencer JA, Yanagisawa H, Zuo J, Li T | title = Elastic fiber homeostasis requires lysyl oxidase-like 1 protein | journal = Nature Genetics | volume = 36 | issue = 2 | pages = 178–82 | date = Feb 2004 | pmid = 14745449 | doi = 10.1038/ng1297 }}</ref> and apolipoprotein(a).<ref name="pmid12111551">{{cite journal | vauthors = Kapetanopoulos A, Fresser F, Millonig G, Shaul Y, Baier G, Utermann G | title = Direct interaction of the extracellular matrix protein DANCE with apolipoprotein(a) mediated by the kringle IV-type 2 domain | journal = Molecular Genetics and Genomics | volume = 267 | issue = 4 | pages = 440–6 | date = June 2002 | pmid = 12111551 | doi = 10.1007/s00438-002-0673-6 }}</ref>
 
==Clinical relevance==
FBLN5 mutations have been described in patients with age-related [[macular degeneration]], as well as being involved in [[Charcot-Marie-Tooth]] neuropathies.<ref name=pmid21576112>{{cite journal | vauthors = 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 | title = Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin | journal = Brain | volume = 134 | issue = Pt 6 | pages = 1839–52 | date = Jun 2011 | pmid = 21576112 | pmc = 3272386 | doi = 10.1093/brain/awr076 }}</ref>
 
== References ==
{{reflist}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = 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 | title = DANCE, a novel secreted RGD protein expressed in developing, atherosclerotic, and balloon-injured arteries | journal = The Journal of Biological Chemistry | volume = 274 | issue = 32 | pages = 22476–83  | date = Aug 1999 | pmid = 10428823 | doi = 10.1074/jbc.274.32.22476 }}
| citations =
* {{cite journal | vauthors = Kobayashi M, Hanai R | title = M phase-specific association of human topoisomerase IIIbeta with chromosomes | journal = Biochemical and Biophysical Research Communications | volume = 287 | issue = 1 | pages = 282–7  | date = Sep 2001 | pmid = 11549288 | doi = 10.1006/bbrc.2001.5580 }}
*{{cite journal | author=Nakamura T, Ruiz-Lozano P, Lindner V, ''et al.'' |title=DANCE, a novel secreted RGD protein expressed in developing, atherosclerotic, and balloon-injured arteries. |journal=J. Biol. Chem. |volume=274 |issue= 32 |pages= 22476-83 |year= 1999 |pmid= 10428823 |doi= }}
* {{cite journal | vauthors = Yanagisawa H, Davis EC, Starcher BC, Ouchi T, Yanagisawa M, Richardson JA, Olson EN | title = Fibulin-5 is an elastin-binding protein essential for elastic fibre development in vivo | journal = Nature | volume = 415 | issue = 6868 | pages = 168–71  | date = Jan 2002 | pmid = 11805834 | doi = 10.1038/415168a }}
*{{cite journal | author=Kowal RC, Jolsin JM, Olson EN, Schultz RA |title=Assignment of fibulin-5 (FBLN5) to human chromosome 14q31 by in situ hybridization and radiation hybrid mapping. |journal=Cytogenet. Cell Genet. |volume=87 |issue= 1-2 |pages= 2-3 |year= 2000 |pmid= 10640802 |doi= }}
* {{cite journal | vauthors = 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 | title = Fibulin-5/DANCE is essential for elastogenesis in vivo | journal = Nature | volume = 415 | issue = 6868 | pages = 171–5  | date = Jan 2002 | pmid = 11805835 | doi = 10.1038/415171a }}
*{{cite journal | author=Kobayashi M, Hanai R |title=M phase-specific association of human topoisomerase IIIbeta with chromosomes. |journal=Biochem. Biophys. Res. Commun. |volume=287 |issue= 1 |pages= 282-7 |year= 2001 |pmid= 11549288 |doi= 10.1006/bbrc.2001.5580 }}
* {{cite journal | vauthors = Kapetanopoulos A, Fresser F, Millonig G, Shaul Y, Baier G, Utermann G | title = Direct interaction of the extracellular matrix protein DANCE with apolipoprotein(a) mediated by the kringle IV-type 2 domain | journal = Molecular Genetics and Genomics : MGG | volume = 267 | issue = 4 | pages = 440–6  | date = Jun 2002 | pmid = 12111551 | doi = 10.1007/s00438-002-0673-6 }}
*{{cite journal | author=Yanagisawa H, Davis EC, Starcher BC, ''et al.'' |title=Fibulin-5 is an elastin-binding protein essential for elastic fibre development in vivo. |journal=Nature |volume=415 |issue= 6868 |pages= 168-71 |year= 2002 |pmid= 11805834 |doi= 10.1038/415168a }}
* {{cite journal | vauthors = Loeys B, Van Maldergem L, Mortier G, Coucke P, Gerniers S, Naeyaert JM, De Paepe A | title = Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa | journal = Human Molecular Genetics | volume = 11 | issue = 18 | pages = 2113–8 | year = 2002 | pmid = 12189163 | doi = 10.1093/hmg/11.18.2113 }}
*{{cite journal | author=Nakamura T, Lozano PR, Ikeda Y, ''et al.'' |title=Fibulin-5/DANCE is essential for elastogenesis in vivo. |journal=Nature |volume=415 |issue= 6868 |pages= 171-5 |year= 2002 |pmid= 11805835 |doi= 10.1038/415171a }}
* {{cite journal | vauthors = Markova D, Zou Y, Ringpfeil F, Sasaki T, Kostka G, Timpl R, Uitto J, Chu ML | title = Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene | journal = American Journal of Human Genetics | volume = 72 | issue = 4 | pages = 998–1004  | date = Apr 2003 | pmid = 12618961 | pmc = 1180361 | doi = 10.1086/373940 }}
*{{cite journal | author=Kapetanopoulos A, Fresser F, Millonig G, ''et al.'' |title=Direct interaction of the extracellular matrix protein DANCE with apolipoprotein(a) mediated by the kringle IV-type 2 domain. |journal=Mol. Genet. Genomics |volume=267 |issue= 4 |pages= 440-6 |year= 2002 |pmid= 12111551 |doi= 10.1007/s00438-002-0673-6 }}
* {{cite journal | vauthors = 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 | title = The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment | journal = Genome Research | volume = 13 | issue = 10 | pages = 2265–70  | date = Oct 2003 | pmid = 12975309 | pmc = 403697 | doi = 10.1101/gr.1293003 }}
*{{cite journal | author=Loeys B, Van Maldergem L, Mortier G, ''et al.'' |title=Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. |journal=Hum. Mol. Genet. |volume=11 |issue= 18 |pages= 2113-8 |year= 2003 |pmid= 12189163 |doi= }}
* {{cite journal | vauthors = Liu X, Zhao Y, Gao J, Pawlyk B, Starcher B, Spencer JA, Yanagisawa H, Zuo J, Li T | title = Elastic fiber homeostasis requires lysyl oxidase-like 1 protein | journal = Nature Genetics | volume = 36 | issue = 2 | pages = 178–82  | date = Feb 2004 | pmid = 14745449 | doi = 10.1038/ng1297 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
* {{cite journal | vauthors = Stone EM, Braun TA, Russell SR, Kuehn MH, Lotery AJ, Moore PA, Eastman CG, Casavant TL, Sheffield VC | title = Missense variations in the fibulin 5 gene and age-related macular degeneration | journal = The New England Journal of Medicine | volume = 351 | issue = 4 | pages = 346–53  | date = Jul 2004 | pmid = 15269314 | doi = 10.1056/NEJMoa040833 }}
*{{cite journal  | author=Markova D, Zou Y, Ringpfeil F, ''et al.'' |title=Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. |journal=Am. J. Hum. Genet. |volume=72 |issue= 4 |pages= 998-1004 |year= 2003 |pmid= 12618961 |doi=  }}
* {{cite journal | vauthors = Nguyen AD, Itoh S, Jeney V, Yanagisawa H, Fujimoto M, Ushio-Fukai M, Fukai T | title = Fibulin-5 is a novel binding protein for extracellular superoxide dismutase | journal = Circulation Research | volume = 95 | issue = 11 | pages = 1067–74 | date = November 4, 2004 | pmid = 15528465 | doi = 10.1161/01.RES.0000149568.85071.FB }}
*{{cite journal  | author=Clark HF, Gurney AL, Abaya E, ''et al.'' |title=The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265-70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003 }}
* {{cite journal | vauthors = 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 | title = Decreased expression of fibulin-5 correlates with reduced elastin in thoracic aortic dissection | journal = Surgery | volume = 138 | issue = 2 | pages = 352–9  | date = Aug 2005 | pmid = 16153447 | doi = 10.1016/j.surg.2005.06.006 }}
*{{cite journal | author=Liu X, Zhao Y, Gao J, ''et al.'' |title=Elastic fiber homeostasis requires lysyl oxidase-like 1 protein. |journal=Nat. Genet. |volume=36 |issue= 2 |pages= 178-82 |year= 2004 |pmid= 14745449 |doi= 10.1038/ng1297 }}
* {{cite journal | vauthors = 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 | title = Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries | journal = DNA Research | volume = 12 | issue = 2 | pages = 117–26 | year = 2007 | pmid = 16303743 | doi = 10.1093/dnares/12.2.117 }}
*{{cite journal | author=Stone EM, Braun TA, Russell SR, ''et al.'' |title=Missense variations in the fibulin 5 gene and age-related macular degeneration. |journal=N. Engl. J. Med. |volume=351 |issue= 4 |pages= 346-53 |year= 2004 |pmid= 15269314 |doi= 10.1056/NEJMoa040833 }}
* {{cite journal | vauthors = Hu Q, Reymond JL, Pinel N, Zabot MT, Urban Z | title = Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and fibulin-5 genes | journal = The Journal of Investigative Dermatology | volume = 126 | issue = 2 | pages = 283–90  | date = Feb 2006 | pmid = 16374472 | doi = 10.1038/sj.jid.5700047 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
* {{cite journal | vauthors = Elahi E, Kalhor R, Banihosseini SS, Torabi N, Pour-Jafari H, Houshmand M, Amini SS, Ramezani A, Loeys B | title = Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype | journal = The Journal of Investigative Dermatology | volume = 126 | issue = 7 | pages = 1506–9  | date = Jul 2006 | pmid = 16691202 | doi = 10.1038/sj.jid.5700247 }}
*{{cite journal | author=Nguyen AD, Itoh S, Jeney V, ''et al.'' |title=Fibulin-5 is a novel binding protein for extracellular superoxide dismutase. |journal=Circ. Res. |volume=95 |issue= 11 |pages= 1067-74 |year= 2005 |pmid= 15528465 |doi= 10.1161/01.RES.0000149568.85071.FB }}
* {{cite journal | vauthors = 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 | title = A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration | journal = Cell | volume = 125 | issue = 4 | pages = 801–14  | date = May 2006 | pmid = 16713569 | doi = 10.1016/j.cell.2006.03.032 }}
*{{cite journal | author=Wang X, LeMaire SA, Chen L, ''et al.'' |title=Decreased expression of fibulin-5 correlates with reduced elastin in thoracic aortic dissection. |journal=Surgery |volume=138 |issue= 2 |pages= 352-9 |year= 2005 |pmid= 16153447 |doi= 10.1016/j.surg.2005.06.006 }}
* {{cite journal | vauthors = Kuang PP, Joyce-Brady M, Zhang XH, Jean JC, Goldstein RH | title = Fibulin-5 gene expression in human lung fibroblasts is regulated by TGF-beta and phosphatidylinositol 3-kinase activity | journal = American Journal of Physiology. Cell Physiology | volume = 291 | issue = 6 | pages = C1412–21 | date = December 1, 2006 | pmid = 16837650 | doi = 10.1152/ajpcell.00087.2006 }}
*{{cite journal | author=Otsuki T, Ota T, Nishikawa T, ''et al.'' |title=Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. |journal=DNA Res. |volume=12 |issue= 2 |pages= 117-26 |year= 2007 |pmid= 16303743 |doi= 10.1093/dnares/12.2.117 }}
*{{cite journal | author=Hu Q, Reymond JL, Pinel N, ''et al.'' |title=Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and fibulin-5 genes. |journal=J. Invest. Dermatol. |volume=126 |issue= 2 |pages= 283-90 |year= 2006 |pmid= 16374472 |doi= 10.1038/sj.jid.5700047 }}
*{{cite journal | author=Elahi E, Kalhor R, Banihosseini SS, ''et al.'' |title=Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype. |journal=J. Invest. Dermatol. |volume=126 |issue= 7 |pages= 1506-9 |year= 2006 |pmid= 16691202 |doi= 10.1038/sj.jid.5700247 }}
*{{cite journal | author=Lim J, Hao T, Shaw C, ''et al.'' |title=A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. |journal=Cell |volume=125 |issue= 4 |pages= 801-14 |year= 2006 |pmid= 16713569 |doi= 10.1016/j.cell.2006.03.032 }}
*{{cite journal  | author=Kuang PP, Joyce-Brady M, Zhang XH, ''et al.'' |title=Fibulin-5 gene expression in human lung fibroblasts is regulated by TGF-beta and phosphatidylinositol 3-kinase activity. |journal=Am. J. Physiol., Cell Physiol. |volume=291 |issue= 6 |pages= C1412-21 |year= 2007 |pmid= 16837650 |doi= 10.1152/ajpcell.00087.2006 }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
== External links ==
{{WikiDoc Sources}}
*[https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=fbln5-cutis-laxa  GeneReview/NIH/UW entry on FBLN5-Related Cutis Laxa]
 
{{Calcium-binding proteins}}
 
 
{{gene-14-stub}}

Latest revision as of 06:31, 10 January 2019

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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.[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] and apolipoprotein(a).[4]

Clinical relevance

FBLN5 mutations have been described in patients with age-related macular degeneration, as well as being involved in Charcot-Marie-Tooth neuropathies.[5]

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. ↑ 2.0 2.1 "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. ↑ 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.
  5. ↑ 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.
  • 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. 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.

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