- FLNB
Filamin B, beta (actin binding protein 278), also known as FLNB, is a human
cytoplasm icprotein .cite web | title = Entrez Gene: FLNB filamin B, beta (actin binding protein 278)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2317| accessdate = ] It regulates intracellular communication and signalling by cross-linking the proteinactin to allow direct communication between thecell membrane and cytoskeletal network, to control and guide proper skeletal development.cite journal |author=Lu J, Lian G, Lenkinski R, De Grand A, Vaid RR, Bryce T, Stasenko M, Boskey A, Walsh C, Sheen V |title=Filamin B mutations cause chondrocyte defects in skeletal development |journal=Hum Mol Genet. |volume=16 |issue=14 |pages=1661–1675 |year=2007 |pmid=17510210 |doi=10.1093/hmg/ddm114 ]Mutations in the FLNB gene are involved in several lethal bone dysplasias, including
boomerang dysplasia andatelosteogenesis type I .cite journal |author=Bicknell LS, Morgan T, Bonife L, Wessels MW, Bialer MG, Willems PJ, Cohen DH, Krakow D, Robertson SP |title=Mutations in FLNB cause boomerang dysplasia |journal=Am J Med Genet. |volume=42 |issue=7 |pages=e43 |year=2005 |pmid=15994868 |doi=10.1136/jmg.2004.029967] cite journal |author=Greally MT, Jewett T, Smith WL Jr., Penick GD, Williamson RA |title=Lethal bone dysplasia in a fetus with manifestations of Atelosteogenesis type I and Boomerang dysplasia |journal=Am J Med Genet. |volume=47 |issue=4 |pages=1086–1091 |year=1993 |pmid=8291529 |doi=10.1002/ajmg.1320470731 ] cite journal |author=Nishimura G, Horiuchi T, Kim OH, Sasamoto Y |title=Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of of Melnick-Needles syndrome |journal=Am J Med Genet. |volume=73 |issue=2 |pages=132–138 |year=1997 |pmid=9409862 |doi=10.1002/(SICI)1096-8628(19971212)73:2<132::AID-AJMG6>3.0.CO;2-W |doilabel=10.1002/(SICI)1096-8628(19971212)73:2132::AID-AJMG63.0.CO;2-W ] PBB_Summary
section_title =
summary_text =References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Stossel TP, Condeelis J, Cooley L, "et al." |title=Filamins as integrators of cell mechanics and signalling. |journal=Nat. Rev. Mol. Cell Biol. |volume=2 |issue= 2 |pages= 138–45 |year= 2001 |pmid= 11252955 |doi= 10.1038/35052082
*cite journal | author=van der Flier A, Sonnenberg A |title=Structural and functional aspects of filamins. |journal=Biochim. Biophys. Acta |volume=1538 |issue= 2-3 |pages= 99–117 |year= 2001 |pmid= 11336782 |doi=
*cite journal | author=Vujic M, Hallstensson K, Wahlström J, "et al." |title=Localization of a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1-14.1 in the proximity of, but distinct from, the COL7A1 locus. |journal=Am. J. Hum. Genet. |volume=57 |issue= 5 |pages= 1104–13 |year= 1995 |pmid= 7485161 |doi=
*cite journal | author=Leedman PJ, Faulkner-Jones B, Cram DS, "et al." |title=Cloning from the thyroid of a protein related to actin binding protein that is recognized by Graves disease immunoglobulins. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=90 |issue= 13 |pages= 5994–8 |year= 1993 |pmid= 8327473 |doi=
*cite journal | author=Zhang W, Han SW, McKeel DW, "et al." |title=Interaction of presenilins with the filamin family of actin-binding proteins. |journal=J. Neurosci. |volume=18 |issue= 3 |pages= 914–22 |year= 1998 |pmid= 9437013 |doi=
*cite journal | author=Takafuta T, Wu G, Murphy GF, Shapiro SS |title=Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ibalpha. |journal=J. Biol. Chem. |volume=273 |issue= 28 |pages= 17531–8 |year= 1998 |pmid= 9651345 |doi=
*cite journal | author=Xu W, Xie Z, Chung DW, Davie EW |title=A novel human actin-binding protein homologue that binds to platelet glycoprotein Ibalpha. |journal=Blood |volume=92 |issue= 4 |pages= 1268–76 |year= 1998 |pmid= 9694715 |doi=
*cite journal | author=Bröcker F, Bardenheuer W, Vieten L, "et al." |title=Assignment of human filamin gene FLNB to human chromosome band 3p14.3 and identification of YACs containing the complete FLNB transcribed region. |journal=Cytogenet. Cell Genet. |volume=85 |issue= 3-4 |pages= 267–8 |year= 1999 |pmid= 10449914 |doi=
*cite journal | author=Ikeda K, Takahashi Y, Katagiri S |title=Effect of medium change on the development of in vitro matured and fertilized bovine oocytes cultured in medium containing amino acids. |journal=J. Vet. Med. Sci. |volume=62 |issue= 1 |pages= 121–3 |year= 2000 |pmid= 10676904 |doi=
*cite journal | author=Chakarova C, Wehnert MS, Uhl K, "et al." |title=Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family. |journal=Hum. Genet. |volume=107 |issue= 6 |pages= 597–611 |year= 2001 |pmid= 11153914 |doi=
*cite journal | author=Dyson JM, O'Malley CJ, Becanovic J, "et al." |title=The SH2-containing inositol polyphosphate 5-phosphatase, SHIP-2, binds filamin and regulates submembraneous actin. |journal=J. Cell Biol. |volume=155 |issue= 6 |pages= 1065–79 |year= 2002 |pmid= 11739414 |doi= 10.1083/jcb.200104005
*cite journal | author=van der Flier A, Kuikman I, Kramer D, "et al." |title=Different splice variants of filamin-B affect myogenesis, subcellular distribution, and determine binding to integrin [beta] subunits. |journal=J. Cell Biol. |volume=156 |issue= 2 |pages= 361–76 |year= 2002 |pmid= 11807098 |doi= 10.1083/jcb.200103037
*cite journal | author=Donaldson JC, Dise RS, Ritchie MD, Hanks SK |title=Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity. |journal=J. Biol. Chem. |volume=277 |issue= 32 |pages= 29028–35 |year= 2002 |pmid= 12006559 |doi= 10.1074/jbc.M111697200
*cite journal | author=Shoeman RL, Hartig R, Hauses C, Traub P |title=Organization of focal adhesion plaques is disrupted by action of the HIV-1 protease. |journal=Cell Biol. Int. |volume=26 |issue= 6 |pages= 529–39 |year= 2003 |pmid= 12119179 |doi=
*cite journal | author=Sheen VL, Feng Y, Graham D, "et al." |title=Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact. |journal=Hum. Mol. Genet. |volume=11 |issue= 23 |pages= 2845–54 |year= 2003 |pmid= 12393796 |doi=
*cite journal | author=Takafuta T, Saeki M, Fujimoto TT, "et al." |title=A new member of the LIM protein family binds to filamin B and localizes at stress fibers. |journal=J. Biol. Chem. |volume=278 |issue= 14 |pages= 12175–81 |year= 2003 |pmid= 12496242 |doi= 10.1074/jbc.M209339200
*cite journal | author=Himmel M, Van Der Ven PF, Stöcklein W, Fürst DO |title=The limits of promiscuity: isoform-specific dimerization of filamins. |journal=Biochemistry |volume=42 |issue= 2 |pages= 430–9 |year= 2003 |pmid= 12525170 |doi= 10.1021/bi026501
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes
Wikimedia Foundation. 2010.
