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Showing Protein Latent-transforming growth factor beta-binding protein 3 (HMDBP14481)

IdentificationBiological propertiesGene propertiesProtein propertiesExternal linksReferencesXMLShow 1 metabolite
Identification
HMDB Protein ID HMDBP14481
Secondary Accession Numbers None
Name Latent-transforming growth factor beta-binding protein 3
Synonyms
  1. LTBP-3
Gene Name LTBP3
Protein Type Unknown
Biological Properties
General Function Not Available
Specific Function Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space. Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta.
Pathways Not Available
Reactions Not Available
GO Classification
Biological Process
lung saccule development
negative regulation of bone mineralization
positive regulation of mesenchymal stem cell differentiation
transforming growth factor beta activation
bone remodeling
negative regulation of chondrocyte differentiation
positive regulation of bone resorption
elastic fiber assembly
transforming growth factor beta receptor signaling pathway
bone morphogenesis
positive regulation of mesenchymal stem cell proliferation
Cellular Component
extracellular vesicular exosome
extracellular region
collagen-containing extracellular matrix
Molecular Function
transforming growth factor beta binding
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 1303
Molecular Weight 139358.16
Theoretical pI 6.073
Pfam Domain Function
Signals
  • 1-43;
Transmembrane Regions Not Available
Protein Sequence Not Available
GenBank ID Protein Not Available
UniProtKB/Swiss-Prot ID Q9NS15
UniProtKB/Swiss-Prot Entry Name LTBP3_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. Bechtel S, Rosenfelder H, Duda A, Schmidt CP, Ernst U, Wellenreuther R, Mehrle A, Schuster C, Bahr A, Blocker H, Heubner D, Hoerlein A, Michel G, Wedler H, Kohrer K, Ottenwalder B, Poustka A, Wiemann S, Schupp I: The full-ORF clone resource of the German cDNA Consortium. BMC Genomics. 2007 Oct 31;8:399. [PubMed:17974005 ]
  3. Sasaki T, Hanisch FG, Deutzmann R, Sakai LY, Sakuma T, Miyamoto T, Yamamoto T, Hannappel E, Chu ML, Lanig H, von der Mark K: Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa. Matrix Biol. 2016 Dec;56:132-149. doi: 10.1016/j.matbio.2016.06.003. Epub 2016 Jun 23. [PubMed:27339457 ]
  4. Saharinen J, Hyytiainen M, Taipale J, Keski-Oja J: Latent transforming growth factor-beta binding proteins (LTBPs)--structural extracellular matrix proteins for targeting TGF-beta action. Cytokine Growth Factor Rev. 1999 Jun;10(2):99-117. doi: 10.1016/s1359-6101(99)00010-6. [PubMed:10743502 ]
  5. Penttinen C, Saharinen J, Weikkolainen K, Hyytiainen M, Keski-Oja J: Secretion of human latent TGF-beta-binding protein-3 (LTBP-3) is dependent on co-expression of TGF-beta. J Cell Sci. 2002 Sep 1;115(Pt 17):3457-68. [PubMed:12154076 ]
  6. Michel K, Roth S, Trautwein C, Gong W, Flemming P, Gressner AM: Analysis of the expression pattern of the latent transforming growth factor beta binding protein isoforms in normal and diseased human liver reveals a new splice variant missing the proteinase-sensitive hinge region. Hepatology. 1998 Jun;27(6):1592-9. doi: 10.1002/hep.510270619. [PubMed:9620332 ]
  7. Saharinen J, Keski-Oja J: Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta. Mol Biol Cell. 2000 Aug;11(8):2691-704. doi: 10.1091/mbc.11.8.2691. [PubMed:10930463 ]
  8. Oklu R, Hesketh R: The latent transforming growth factor beta binding protein (LTBP) family. Biochem J. 2000 Dec 15;352 Pt 3:601-10. [PubMed:11104663 ]
  9. Koli K, Hyytiainen M, Ryynanen MJ, Keski-Oja J: Sequential deposition of latent TGF-beta binding proteins (LTBPs) during formation of the extracellular matrix in human lung fibroblasts. Exp Cell Res. 2005 Nov 1;310(2):370-82. doi: 10.1016/j.yexcr.2005.08.008. Epub 2005 Sep 12. [PubMed:16157329 ]
  10. Noor A, Windpassinger C, Vitcu I, Orlic M, Rafiq MA, Khalid M, Malik MN, Ayub M, Alman B, Vincent JB: Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3. Am J Hum Genet. 2009 Apr;84(4):519-23. doi: 10.1016/j.ajhg.2009.03.007. Epub 2009 Apr 2. [PubMed:19344874 ]
  11. McInerney-Leo AM, Le Goff C, Leo PJ, Kenna TJ, Keith P, Harris JE, Steer R, Bole-Feysot C, Nitschke P, Kielty C, Brown MA, Zankl A, Duncan EL, Cormier-Daire V: Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. J Med Genet. 2016 Jul;53(7):457-64. doi: 10.1136/jmedgenet-2015-103647. Epub 2016 Apr 11. [PubMed:27068007 ]