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Showing Protein Fibulin-5 (HMDBP13384)

IdentificationBiological propertiesGene propertiesProtein propertiesExternal linksReferencesXMLShow 1 metabolite
Identification
HMDB Protein ID HMDBP13384
Secondary Accession Numbers None
Name Fibulin-5
Synonyms
  1. FIBL-5
  2. Developmental arteries and neural crest EGF-like protein
  3. Urine p50 protein
  4. Dance
  5. UP50
Gene Name FBLN5
Protein Type Unknown
Biological Properties
General Function Not Available
Specific Function Essential for elastic fiber formation, is involved in the assembly of continuous elastin (ELN) polymer and promotes the interaction of microfibrils and ELN (PubMed:18185537). Stabilizes and organizes elastic fibers in the skin, lung and vasculature (By similarity). Promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. Vascular ligand for integrin receptors which may play a role in vascular development and remodeling (PubMed:10428823). May act as an adapter that mediates the interaction between FBN1 and ELN (PubMed:17255108).
Pathways Not Available
Reactions Not Available
GO Classification
Biological Process
extracellular matrix organization
regulation of removal of superoxide radicals
protein localization to cell surface
secretion
elastic fiber assembly
cell-matrix adhesion
Cellular Component
extracellular vesicular exosome
extracellular region
collagen-containing extracellular matrix
extracellular space
extracellular matrix
Molecular Function
protein C-terminus binding
integrin binding
protein homodimerization activity
calcium ion binding
Cellular Location Not Available
Gene Properties
Chromosome Location Not Available
Locus Not Available
SNPs Not Available
Gene Sequence Not Available
Protein Properties
Number of Residues 448
Molecular Weight 50180.005
Theoretical pI 4.723
Pfam Domain Function
Signals
  • 1-23;
Transmembrane Regions Not Available
Protein Sequence Not Available
GenBank ID Protein Not Available
UniProtKB/Swiss-Prot ID Q9UBX5
UniProtKB/Swiss-Prot Entry Name FBLN5_HUMAN
PDB IDs Not Available
GenBank Gene ID Not Available
GeneCard ID Not Available
GenAtlas ID Not Available
HGNC ID Not Available
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. 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: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Genome Res. 2003 Oct;13(10):2265-70. Epub 2003 Sep 15. [PubMed:12975309 ]
  3. 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: 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. 2005;12(2):117-26. [PubMed:16303743 ]
  4. Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. J Proteomics. 2014 Jan 16;96:253-62. doi: 10.1016/j.jprot.2013.11.014. Epub 2013 Nov 22. [PubMed:24275569 ]
  5. 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: DANCE, a novel secreted RGD protein expressed in developing, atherosclerotic, and balloon-injured arteries. J Biol Chem. 1999 Aug 6;274(32):22476-83. doi: 10.1074/jbc.274.32.22476. [PubMed:10428823 ]
  6. Freeman LJ, Lomas A, Hodson N, Sherratt MJ, Mellody KT, Weiss AS, Shuttleworth A, Kielty CM: Fibulin-5 interacts with fibrillin-1 molecules and microfibrils. Biochem J. 2005 May 15;388(Pt 1):1-5. doi: 10.1042/BJ20050368. [PubMed:15790312 ]
  7. El-Hallous E, Sasaki T, Hubmacher D, Getie M, Tiedemann K, Brinckmann J, Batge B, Davis EC, Reinhardt DP: Fibrillin-1 interactions with fibulins depend on the first hybrid domain and provide an adaptor function to tropoelastin. J Biol Chem. 2007 Mar 23;282(12):8935-46. doi: 10.1074/jbc.M608204200. Epub 2007 Jan 25. [PubMed:17255108 ]
  8. Choudhury R, McGovern A, Ridley C, Cain SA, Baldwin A, Wang MC, Guo C, Mironov A Jr, Drymoussi Z, Trump D, Shuttleworth A, Baldock C, Kielty CM: Differential regulation of elastic fiber formation by fibulin-4 and -5. J Biol Chem. 2009 Sep 4;284(36):24553-67. doi: 10.1074/jbc.M109.019364. Epub 2009 Jul 1. [PubMed:19570982 ]
  9. Jones RP, Wang MC, Jowitt TA, Ridley C, Mellody KT, Howard M, Wang T, Bishop PN, Lotery AJ, Kielty CM, Baldock C, Trump D: Fibulin 5 forms a compact dimer in physiological solutions. J Biol Chem. 2009 Sep 18;284(38):25938-43. doi: 10.1074/jbc.M109.011627. Epub 2009 Jul 17. [PubMed:19617354 ]
  10. Loeys B, Van Maldergem L, Mortier G, Coucke P, Gerniers S, Naeyaert JM, De Paepe A: Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Hum Mol Genet. 2002 Sep 1;11(18):2113-8. doi: 10.1093/hmg/11.18.2113. [PubMed:12189163 ]
  11. Markova D, Zou Y, Ringpfeil F, Sasaki T, Kostka G, Timpl R, Uitto J, Chu ML: Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. Am J Hum Genet. 2003 Apr;72(4):998-1004. doi: 10.1086/373940. Epub 2003 Feb 28. [PubMed:12618961 ]
  12. Stone EM, Braun TA, Russell SR, Kuehn MH, Lotery AJ, Moore PA, Eastman CG, Casavant TL, Sheffield VC: Missense variations in the fibulin 5 gene and age-related macular degeneration. N Engl J Med. 2004 Jul 22;351(4):346-53. doi: 10.1056/NEJMoa040833. [PubMed:15269314 ]
  13. Hu Q, Loeys BL, Coucke PJ, De Paepe A, Mecham RP, Choi J, Davis EC, Urban Z: Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. Hum Mol Genet. 2006 Dec 1;15(23):3379-86. doi: 10.1093/hmg/ddl414. Epub 2006 Oct 11. [PubMed:17035250 ]
  14. Lotery AJ, Baas D, Ridley C, Jones RP, Klaver CC, Stone E, Nakamura T, Luff A, Griffiths H, Wang T, Bergen AA, Trump D: Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa. Hum Mutat. 2006 Jun;27(6):568-74. doi: 10.1002/humu.20344. [PubMed:16652333 ]
  15. Claus S, Fischer J, Megarbane H, Megarbane A, Jobard F, Debret R, Peyrol S, Saker S, Devillers M, Sommer P, Damour O: A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model. J Invest Dermatol. 2008 Jun;128(6):1442-50. doi: 10.1038/sj.jid.5701211. Epub 2008 Jan 10. [PubMed:18185537 ]
  16. Megarbane H, Florence J, Sass JO, Schwonbeck S, Foglio M, de Cid R, Cure S, Saker S, Megarbane A, Fischer J: An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism. J Invest Dermatol. 2009 Jul;129(7):1650-5. doi: 10.1038/jid.2008.450. Epub 2009 Feb 5. [PubMed:19194475 ]
  17. Jones RP, Ridley C, Jowitt TA, Wang MC, Howard M, Bobola N, Wang T, Bishop PN, Kielty CM, Baldock C, Lotery AJ, Trump D: Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa. Invest Ophthalmol Vis Sci. 2010 May;51(5):2356-62. doi: 10.1167/iovs.09-4620. Epub 2009 Dec 10. [PubMed:20007835 ]
  18. Auer-Grumbach M, Weger M, Fink-Puches R, Papic L, Frohlich E, Auer-Grumbach P, El Shabrawi-Caelen L, Schabhuttl M, Windpassinger C, Senderek J, Budka H, Trajanoski S, Janecke AR, Haas A, Metze D, Pieber TR, Guelly C: Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin. Brain. 2011 Jun;134(Pt 6):1839-52. doi: 10.1093/brain/awr076. Epub 2011 May 15. [PubMed:21576112 ]
  19. Safka Brozkova D, Lassuthova P, Neupauerova J, Krutova M, Haberlova J, Stejskal D, Seeman P: Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy. Brain. 2013 Jul;136(Pt 7):e232. doi: 10.1093/brain/aws333. Epub 2013 Jan 16. [PubMed:23328402 ]