FLNB

From Wikipedia, the free encyclopedia

Filamin B, beta (actin binding protein 278)

PDB rendering based on 2di8.

Available structures: 2di8, 2di9, 2dia, 2dib, 2dic, 2dj4, 2dlg, 2dmb, 2dmc

Identifiers

Symbol(s)

FLNB; ABP-278; AOI; DKFZp686A1668; DKFZp686O033; FH1; FLN1L; LRS1; SCT; TABP; TAP; filamin B

External IDs

OMIM: 603381 MGI: 2446089 HomoloGene: 37480

Gene ontology
Molecular Function:	• actin binding • protein binding
Cellular Component:	• actin cytoskeleton • integral to membrane
Biological Process:	• cytoskeletal anchoring • signal transduction • multicellular organismal development • striated muscle development • actin cytoskeleton organization and biogenesis • cell differentiation

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_001457 (mRNA)
NP_001448 (protein)

XM_487363 (mRNA)
XP_487363 (protein)

Location

Chr 3: 57.97 - 58.13 Mb

Chr 14: 6.61 - 6.74 Mb

Pubmed search

[1]

[2]

Filamin B, beta (actin binding protein 278), also known as FLNB, is a human cytoplasmic protein.^[1] It regulates intracellular communication and signalling by cross-linking the protein actin to allow direct communication between the cell membrane and cytoskeletal network, to control and guide proper skeletal development.^[2]

Mutations in the FLNB gene are involved in several lethal bone dysplasias, including boomerang dysplasia and atelosteogenesis type I.^[3]^[4]^[5]

[edit] References

^ Entrez Gene: FLNB filamin B, beta (actin binding protein 278).
^ Lu J, Lian G, Lenkinski R, De Grand A, Vaid RR, Bryce T, Stasenko M, Boskey A, Walsh C, Sheen V (2007). "Filamin B mutations cause chondrocyte defects in skeletal development". Hum Mol Genet. 16 (14): 1661-1675. PMID 17510210.
^ Bicknell LS, Morgan T, Bonife L, Wessels MW, Bialer MG, Willems PJ, Cohen DH, Krakow D, Robertson SP (2005). "Mutations in FLNB cause boomerang dysplasia". Am J Med Genet. 42 (7): e43. PMID 15994868.
^ Greally MT, Jewett T, Smith WL Jr., Penick GD, Williamson RA (1993). "Lethal bone dysplasia in a fetus with manifestations of Atelosteogenesis type I and Boomerang dysplasia". Am J Med Genet. 47 (4): 1086-1091. PMID 8291529.
^ Nishimura G, Horiuchi T, Kim OH, Sasamoto Y (1997). "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". Am J Med Genet. 73 (2): 132-138. PMID 9409862.

[edit] Further reading

Stossel TP, Condeelis J, Cooley L, et al. (2001). "Filamins as integrators of cell mechanics and signalling.". Nat. Rev. Mol. Cell Biol. 2 (2): 138-45. doi:10.1038/35052082. PMID 11252955.
van der Flier A, Sonnenberg A (2001). "Structural and functional aspects of filamins.". Biochim. Biophys. Acta 1538 (2-3): 99-117. PMID 11336782.
Vujic M, Hallstensson K, Wahlström J, et al. (1995). "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.". Am. J. Hum. Genet. 57 (5): 1104-13. PMID 7485161.
Leedman PJ, Faulkner-Jones B, Cram DS, et al. (1993). "Cloning from the thyroid of a protein related to actin binding protein that is recognized by Graves disease immunoglobulins.". Proc. Natl. Acad. Sci. U.S.A. 90 (13): 5994-8. PMID 8327473.
Zhang W, Han SW, McKeel DW, et al. (1998). "Interaction of presenilins with the filamin family of actin-binding proteins.". J. Neurosci. 18 (3): 914-22. PMID 9437013.
Takafuta T, Wu G, Murphy GF, Shapiro SS (1998). "Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ibalpha.". J. Biol. Chem. 273 (28): 17531-8. PMID 9651345.
Xu W, Xie Z, Chung DW, Davie EW (1998). "A novel human actin-binding protein homologue that binds to platelet glycoprotein Ibalpha.". Blood 92 (4): 1268-76. PMID 9694715.
Bröcker F, Bardenheuer W, Vieten L, et al. (1999). "Assignment of human filamin gene FLNB to human chromosome band 3p14.3 and identification of YACs containing the complete FLNB transcribed region.". Cytogenet. Cell Genet. 85 (3-4): 267-8. PMID 10449914.
Ikeda K, Takahashi Y, Katagiri S (2000). "Effect of medium change on the development of in vitro matured and fertilized bovine oocytes cultured in medium containing amino acids.". J. Vet. Med. Sci. 62 (1): 121-3. PMID 10676904.
Chakarova C, Wehnert MS, Uhl K, et al. (2001). "Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family.". Hum. Genet. 107 (6): 597-611. PMID 11153914.
Dyson JM, O'Malley CJ, Becanovic J, et al. (2002). "The SH2-containing inositol polyphosphate 5-phosphatase, SHIP-2, binds filamin and regulates submembraneous actin.". J. Cell Biol. 155 (6): 1065-79. doi:10.1083/jcb.200104005. PMID 11739414.
van der Flier A, Kuikman I, Kramer D, et al. (2002). "Different splice variants of filamin-B affect myogenesis, subcellular distribution, and determine binding to integrin [beta] subunits.". J. Cell Biol. 156 (2): 361-76. doi:10.1083/jcb.200103037. PMID 11807098.
Donaldson JC, Dise RS, Ritchie MD, Hanks SK (2002). "Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity.". J. Biol. Chem. 277 (32): 29028-35. doi:10.1074/jbc.M111697200. PMID 12006559.
Shoeman RL, Hartig R, Hauses C, Traub P (2003). "Organization of focal adhesion plaques is disrupted by action of the HIV-1 protease.". Cell Biol. Int. 26 (6): 529-39. PMID 12119179.
Sheen VL, Feng Y, Graham D, et al. (2003). "Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact.". Hum. Mol. Genet. 11 (23): 2845-54. PMID 12393796.
Takafuta T, Saeki M, Fujimoto TT, et al. (2003). "A new member of the LIM protein family binds to filamin B and localizes at stress fibers.". J. Biol. Chem. 278 (14): 12175-81. doi:10.1074/jbc.M209339200. PMID 12496242.
Himmel M, Van Der Ven PF, Stöcklein W, Fürst DO (2003). "The limits of promiscuity: isoform-specific dimerization of filamins.". Biochemistry 42 (2): 430-9. doi:10.1021/bi026501+. PMID 12525170.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40-5. doi:10.1038/ng1285. PMID 14702039.